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The program is part of an ongoing collaboration between the \u003ca href=\"http://genetics.stanford.edu/\">Stanford Department of Genetics\u003c/a> and \u003ca href=\"http://www.thetech.org/\">The Tech Museum of Innovation\u003c/a>. Together these two partners created the \u003ca href=\"http://www.thetech.org/exhibits/permanent/index.php?sGalKey=gtwt&galKey=lt\">Genetics: Technology with a Twist\u003c/a> exhibition.\r\n\r\nYou can also see \u003ca href=\"http://blogs.kqed.org/science/author/dr-barry-starr/\">additional posts by Barry at KQED Science\u003c/a>.","avatar":"https://secure.gravatar.com/avatar/4a5680e4c642ea0f0f3041af16018969?s=600&d=blank&r=g","twitter":null,"facebook":null,"instagram":null,"linkedin":null,"sites":[{"site":"futureofyou","roles":["editor"]}],"headData":{"title":"Dr. Barry Starr | KQED","description":null,"ogImgSrc":"https://secure.gravatar.com/avatar/4a5680e4c642ea0f0f3041af16018969?s=600&d=blank&r=g","twImgSrc":"https://secure.gravatar.com/avatar/4a5680e4c642ea0f0f3041af16018969?s=600&d=blank&r=g"},"isLoading":false,"link":"/author/bstarr"},"lesleymcclurg":{"type":"authors","id":"11229","meta":{"index":"authors_1591205172","id":"11229","found":true},"name":"Lesley McClurg","firstName":"Lesley","lastName":"McClurg","slug":"lesleymcclurg","email":"lmcclurg@KQED.org","display_author_email":false,"staff_mastheads":["news","science"],"title":"KQED Health Correspondent","bio":"\u003cspan style=\"font-weight: 400;\">Lesley McClurg is a health correspondent and fill-in host. \u003c/span>\u003cspan style=\"font-weight: 400;\">Her work is regularly rebroadcast on numerous NPR and PBS shows. She has won several regional Emmy awards, a regional and a national Edward R. Murrow award. The Association for Health Journalists awarded Lesley best beat coverage. The Society of Professional Journalists has recognized her reporting several times. The Society of Environmental Journalists spotlighted her ongoing coverage of California's historic drought. \u003c/span>\u003cspan style=\"font-weight: 400;\">Before joining KQED in 2016, she covered food and sustainability for Capital Public Radio, the environment for Colorado Public Radio, and reported for both KUOW and KCTS9 in Seattle. \u003c/span>\u003cspan style=\"font-weight: 400;\">When not hunched over her laptop Lesley enjoys skiing with her toddler, surfing with her husband or scheming their next globetrotting adventure. Before motherhood she relished dancing tango till sunrise. When on deadline she fuels herself almost exclusively on chocolate chips.\u003c/span>\r\n\r\n\u003cspan style=\"font-weight: 400;\"> \u003c/span>","avatar":"https://secure.gravatar.com/avatar/3fb78e873af3312f34d0bc1d60a07c7f?s=600&d=blank&r=g","twitter":"lesleywmcclurg","facebook":null,"instagram":null,"linkedin":null,"sites":[{"site":"arts","roles":["author"]},{"site":"news","roles":["editor"]},{"site":"futureofyou","roles":["editor"]},{"site":"stateofhealth","roles":["author"]},{"site":"science","roles":["editor"]}],"headData":{"title":"Lesley McClurg | KQED","description":"KQED Health Correspondent","ogImgSrc":"https://secure.gravatar.com/avatar/3fb78e873af3312f34d0bc1d60a07c7f?s=600&d=blank&r=g","twImgSrc":"https://secure.gravatar.com/avatar/3fb78e873af3312f34d0bc1d60a07c7f?s=600&d=blank&r=g"},"isLoading":false,"link":"/author/lesleymcclurg"}},"breakingNewsReducer":{},"campaignFinanceReducer":{},"firebase":{"requesting":{},"requested":{},"timestamps":{},"data":{},"ordered":{},"auth":{"isLoaded":false,"isEmpty":true},"authError":null,"profile":{"isLoaded":false,"isEmpty":true},"listeners":{"byId":{},"allIds":[]},"isInitializing":false,"errors":[]},"navBarReducer":{"navBarId":"home","fullView":true,"showPlayer":false},"navMenuReducer":{"menus":[{"key":"menu1","items":[{"name":"News","link":"/","type":"title"},{"name":"Politics","link":"/politics"},{"name":"Science","link":"/science"},{"name":"Education","link":"/educationnews"},{"name":"Housing","link":"/housing"},{"name":"Immigration","link":"/immigration"},{"name":"Criminal Justice","link":"/criminaljustice"},{"name":"Silicon Valley","link":"/siliconvalley"},{"name":"Forum","link":"/forum"},{"name":"The California Report","link":"/californiareport"}]},{"key":"menu2","items":[{"name":"Arts & Culture","link":"/arts","type":"title"},{"name":"Critics’ Picks","link":"/thedolist"},{"name":"Cultural Commentary","link":"/artscommentary"},{"name":"Food & Drink","link":"/food"},{"name":"Bay Area Hip-Hop","link":"/bayareahiphop"},{"name":"Rebel Girls","link":"/rebelgirls"},{"name":"Arts Video","link":"/artsvideos"}]},{"key":"menu3","items":[{"name":"Podcasts","link":"/podcasts","type":"title"},{"name":"Bay Curious","link":"/podcasts/baycurious"},{"name":"Rightnowish","link":"/podcasts/rightnowish"},{"name":"The Bay","link":"/podcasts/thebay"},{"name":"On Our Watch","link":"/podcasts/onourwatch"},{"name":"Mindshift","link":"/podcasts/mindshift"},{"name":"Consider This","link":"/podcasts/considerthis"},{"name":"Political Breakdown","link":"/podcasts/politicalbreakdown"}]},{"key":"menu4","items":[{"name":"Live Radio","link":"/radio","type":"title"},{"name":"TV","link":"/tv","type":"title"},{"name":"Events","link":"/events","type":"title"},{"name":"For Educators","link":"/education","type":"title"},{"name":"Support KQED","link":"/support","type":"title"},{"name":"About","link":"/about","type":"title"},{"name":"Help Center","link":"https://kqed-helpcenter.kqed.org/s","type":"title"}]}]},"pagesReducer":{},"postsReducer":{"stream_live":{"type":"live","id":"stream_live","audioUrl":"https://streams.kqed.org/kqedradio","title":"Live Stream","excerpt":"Live Stream information currently unavailable.","link":"/radio","featImg":"","label":{"name":"KQED Live","link":"/"}},"stream_kqedNewscast":{"type":"posts","id":"stream_kqedNewscast","audioUrl":"https://www.kqed.org/.stream/anon/radio/RDnews/newscast.mp3?_=1","title":"KQED Newscast","featImg":"","label":{"name":"88.5 FM","link":"/"}},"futureofyou_442604":{"type":"posts","id":"futureofyou_442604","meta":{"index":"posts_1591205157","site":"futureofyou","id":"442604","score":null,"sort":[1550278825000]},"guestAuthors":[],"slug":"i-found-out-my-genetics-makes-me-painfully-sensitive-to-rejection-now-what","title":"One Gene Makes Me Painfully Sensitive to Rejection. Now What?","publishDate":1550278825,"format":"audio","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>\u003cstrong>Originally published on Sept 27, 2018\u003c/strong>\u003c/p>\n\u003cp>A few months ago, I ordered a home genetic testing kit. I didn’t do it because I wanted to know about my ancestry. I did it because I’d heard about a genetic variation that can make people more sensitive to rejection — and I was convinced I had it.\u003c/p>\n\u003cp>I have always been a bit overly sensitive. I remember a particularly devastating moment in fourth grade. Ms. Brown had asked a question I knew the answer to. I raised my hand, stretching my whole body up so she would notice. She made eye contact with me, commented that I had already gotten to answer a question that day, and then called on a student behind me.\u003c/p>\n\u003caside class=\"pullquote alignright\">I have long struggled with bouts of depression; my relationships are typically a roller coaster of anxieties. If I were a G-carrier, it could explain so much of what I was experiencing.\u003c/aside>\n\u003cp>I could feel my face flush with embarrassment. A knot started to form in my throat as, almost in a whisper, I asked to be excused, the tears welling up in my eyes. Once I was safe behind the bathroom door, I used my shirt to muffle the sounds of my crying. Simply because the teacher hadn’t called on me.\u003c/p>\n\u003cp>A few years later in middle school, my friend Jennifer slipped a note into my locker saying that she wanted to play with another kid at recess, not me. That night — and for many nights after — I lay curled up in my bed for hours, the note on my nightstand.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>As I got older, it got worse. The emotional pain I experienced in social situations changed how I felt about myself and how I behaved with other people. As an adult, if a friend didn’t respond to a text, I would pull away and avoid them. When someone I barely knew ghosted me, I convinced myself that I wasn’t desirable to anyone.\u003c/p>\n\u003cp>Friends told me I was overreacting. Sure, everyone feels a little hurt by these things, but to become so debilitated each time was a bit over the top, they told me. Finally, in my late 20s, I started to wonder if maybe there was something wrong with me.\u003c/p>\n\u003cp>\u003cstrong>Is Oversensitivity Biological?\u003c/strong>\u003c/p>\n\u003cp>In 2009, \u003ca href=\"http://www.pnas.org/content/106/35/15079\">a ground-breaking study\u003c/a> investigated the link between emotional sensitivity and our genetics. Scientists already knew that a particular gene, the OPRM1 gene, could influence our sensitivity to physical pain. \u003ca href=\"https://www.ncbi.nlm.nih.gov/pubmed/18719451\">Previous studies\u003c/a> had shown that people with a G allele on this gene required higher doses of morphine to curb pain, suggesting they experience pain more intensely than others. Because \u003ca href=\"https://www.kqed.org/futureofyou/175807/can-taking-tylenol-help-you-get-over-a-romantic-breakup-maybe\">physical pain and emotional pain are processed in similar regions of the brain\u003c/a>, researchers wondered if G-allele carriers might also experience more intense \u003cem>emotional \u003c/em>pain.\u003c/p>\n\u003cp>To test the question, neuroscientists at the University of California Los Angeles recruited 122 people, 49 of whom were G-carriers, the rest of whom were not. Participants came into the lab and played a computer game intended to evoke feelings of rejection. In the game, each participant would toss a ball back and forth to two other virtual players on a screen. The two players would, at some point, exclude the participant. Meanwhile, the participant lay in a functional magnetic resonance imaging (fMRI) brain scanner that measured blood flow to the pain regions of the brain.\u003c/p>\n\u003cfigure id=\"attachment_443244\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003cimg class=\"size-large wp-image-443244\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-1020x381.jpg\" alt=\"Brain scan showing yellow dots\" width=\"640\" height=\"239\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-1020x381.jpg 1020w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-160x60.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-800x299.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-768x287.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-1200x448.jpg 1200w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-1920x717.jpg 1920w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-1180x441.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-960x359.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-240x90.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-375x140.jpg 375w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-520x194.jpg 520w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003cfigcaption class=\"wp-caption-text\">fMRI scan of brain showing activation of pain regions (including the dorsal anterior cingulate cortex). The image comes from a study in which participants played “Cyberball” while lying in the fMRI scanner—a game designed to induce feelings of rejection. \u003ccite>(Baldwin Way)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>“What the researchers found was that there was an exaggerated response [in G carriers],” says Jon-Kar Zubieta, a psychiatric researcher at the University of Utah. “Individuals who were G-allele carriers had greater responses to the negative emotional challenge, which was associated with greater activation of the anterior cingulate cortex,” a pain region of the brain.\u003c/p>\n\u003cp>I had called up Zubieta to get his take on the research for this story — but my questions were also personally motivated.\u003c/p>\n\u003cp>“G-carriers seem to have less capacity to compensate for negative emotion,” he told me. And it doesn’t matter whether that negative emotion is in response to physical pain or the social pain of rejection, like what study participants experienced during the ball-tossing game.\u003c/p>\n\u003cp>Zubieta also told me that G-carriers — who make up 15 to 20 percent of the general population — not only feel more hurt in everyday social interactions, “these individuals \u003ca href=\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330509/\">have traits\u003c/a> that make them more prone to developing conditions such as depression and anxiety.”\u003c/p>\n\u003cfigure id=\"attachment_443245\" class=\"wp-caption aligncenter\" style=\"max-width: 600px\">\u003cimg class=\"wp-image-443245 size-full\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2018/07/Zubieta.jpg\" alt=\"A man speaks in front of a white board.\" width=\"600\" height=\"400\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2018/07/Zubieta.jpg 600w, https://ww2.kqed.org/app/uploads/sites/13/2018/07/Zubieta-160x107.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2018/07/Zubieta-240x160.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2018/07/Zubieta-375x250.jpg 375w, https://ww2.kqed.org/app/uploads/sites/13/2018/07/Zubieta-520x347.jpg 520w\" sizes=\"(max-width: 600px) 100vw, 600px\">\u003cfigcaption class=\"wp-caption-text\">Jon-Kar Zubieta, Chairman of the Department of Psychiatry and Psychiatrist-in-Chief of the University of Utah Neuropsychiatric Institute. \u003ccite>(University of Utah Health)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Listening to Zubieta recount such findings, I found myself nodding my head. All of it resonated with me. I have long struggled with bouts of depression; my relationships are typically a roller coaster of anxieties. If I were a G-carrier, it could explain so much of what I was experiencing.\u003c/p>\n\u003cp>\u003cstrong>Why Do G-Carriers Feel More Pain?\u003c/strong>\u003c/p>\n\u003cp>When the genetic kit finally arrived at my house, I opened it and pulled out the clear test tube. I collected my saliva, sealed it back up, and shipped it off to the lab to be tested.\u003c/p>\n\u003cp>In the weeks I spent waiting for my results, I looked up more research on how the OPRM1 gene could lead to a heightened sense of pain.\u003c/p>\n\u003cp>[emailsignup newslettername='science' align='right']As it turns out, the gene controls the number of opioid receptors in the brain. In a typical brain, when a person is experiencing pain, neurons fire in regions such as the anterior cingulate cortex. In response, the body releases endorphins — our natural pain killers. The endorphins rush into the brain and attach to neuron receptors, inhibiting those cells from firing, effectively stopping the pain signal. This process is actually what happens during the “runner’s high,” and the same process occurs for most people when they experience the pain of rejection.\u003c/p>\n\u003cp>However, if a person doesn’t have enough opioid receptors or doesn’t release a sufficient amount of endorphins, they could experience more suffering than others. Zubieta says this is likely what happens to G-carriers; they appear to have fewer receptors in critical areas of the brain and, he adds, “they may have less capacity to release natural opioids in general.” This means, Zubieta says, that G-carriers “have less capacity to suppress responses to pain.”\u003c/p>\n\u003cp>\u003cstrong>So … Am I A G-Carrier?\u003c/strong>\u003c/p>\n\u003cp>Several weeks after shipping off my saliva, I was at home when an email popped up in my inbox; my results had come in. My stomach dropped and I sat staring at the unopened email for a few minutes.\u003c/p>\n\u003cp>What would it mean if I were a G-carrier? It would feel validating, of course. For so long I had felt like I was emotionally weak. If I were a G-carrier then it would mean there was a biological explanation for my feelings. It would mean that I hadn’t been overreacting all these years; rather, I had been reacting proportionally to the pain I was feeling — pain that 80 to 85 percent of the population simply doesn’t feel.\u003c/p>\n\u003cp>On the other hand, if I weren’t a G-carrier, I wasn’t sure where that would leave me. I could feel my heart beating faster. My hands shook slightly as I struggled to steady my breathing.\u003c/p>\n\u003cp>I opened the email and scrolled through lines of the genetic code until I found the OPRM1 gene on chromosome 6. Typed in small font was a “G.”\u003c/p>\n\u003cfigure id=\"attachment_442608\" class=\"wp-caption alignright\" style=\"max-width: 240px\">\u003cimg class=\"size-full wp-image-442608\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2018/06/RS31383_CANTRELL_003-sfi.jpg\" alt=\"\" width=\"240\" height=\"360\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2018/06/RS31383_CANTRELL_003-sfi.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/RS31383_CANTRELL_003-sfi-160x240.jpg 160w\" sizes=\"(max-width: 240px) 100vw, 240px\">\u003cfigcaption class=\"wp-caption-text\">Lisa Cantrell stretches prior to running at Dolores Park in San Francisco, Calif., on Monday, June 11, 2018. \u003ccite>(Lauren Hanussak/KQED)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cstrong>What Now?\u003c/strong>\u003c/p>\n\u003cp>So am I stuck with unbearable pain forever? A prisoner to my genetics? On the phone with Zubieta, I ask him if a G-carrier like me could do anything about it.\u003c/p>\n\u003cp>“You have to remember that the opioid system becomes active when there are things like exercise or stressors,” so when you do physically demanding sports or activities that in some way cause pain “you are training the system.” In other words, Zubieta says, you can modify your brain’s response.\u003c/p>\n\u003cp>The advice makes sense. Exercise not only releases endorphins that decrease pain in the moment, regularly challenging your body with physical activity can strengthen the overall functioning of the opioid system, potentially prompting your brain to create new receptors and urging your body to increase the amount of endorphins released each time you experience a stressor.\u003c/p>\n\u003cp>All of this could make the system more optimal, more prepared to kick into full gear when it encounters pain, be it physical or emotional. Interestingly, \u003ca href=\"https://www.sciencedirect.com/science/article/abs/pii/003193849190418N\">chocolate\u003c/a> and \u003ca href=\"http://rspb.royalsocietypublishing.org/content/early/2011/09/12/rspb.2011.1373.short\">laughter\u003c/a> may also help — they bump up endorphin release, which could alleviate pain in the moment as well as have longer term effects.\u003c/p>\n\u003cp>Zubieta continued with his suggestions. “So you could do yoga… or run marathons.” Something physically demanding, he says.\u003c/p>\n\u003cp>“I’m not sure about a marathon,” I laugh.\u003c/p>\n\u003cp>But the idea stuck with me as I hung up the phone.\u003c/p>\n\u003cp>I do envision a life for myself someday in which I have slightly thicker skin — a life in which I don’t cry because a friend forgets to return my text. So, after a few days of mulling it over, I decide to take Zubieta’s advice.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>For the past two months I have been on a strict running schedule, gradually increasing my miles, preparing for a half marathon I’m signed up to run next month. Is the physical training helping me tame my emotions? It’s hard to say. I have definitely experienced moments of rejection over the last few weeks that I feel have been easier to deal with. But it’s hard to know if the marathon training is the cause of my increased ability to cope, or if it’s just the power of having a label. Maybe just knowing I’m a G-carrier — knowing that my pain might be more intense than others — is what I have needed all along. My own self-awareness might just be the first real step in changing how I react to the world.\u003c/p>\n\n","blocks":[],"excerpt":"Fifteen to 20 percent of the population carry the gene that causes acute emotional pain in response to social rejection. Will a genetic test to reveal the gene offer validation or hopelessness?","status":"publish","parent":0,"modified":1550281257,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":37,"wordCount":1795},"headData":{"title":"One Gene Makes Me Painfully Sensitive to Rejection. Now What? | KQED","description":"Fifteen to 20 percent of the population carry the gene that causes acute emotional pain in response to social rejection. Will a genetic test to reveal the gene offer validation or hopelessness?","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"One Gene Makes Me Painfully Sensitive to Rejection. Now What?","datePublished":"2019-02-16T01:00:25.000Z","dateModified":"2019-02-16T01:40:57.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"442604 https://ww2.kqed.org/futureofyou/?p=442604","disqusUrl":"https://ww2.kqed.org/futureofyou/2019/02/15/i-found-out-my-genetics-makes-me-painfully-sensitive-to-rejection-now-what/","disqusTitle":"One Gene Makes Me Painfully Sensitive to Rejection. Now What?","source":"Your Genes","audioUrl":"https://www.kqed.org/.stream/anon/radio/tcrmag/2019/02/CantrellRejectionGene.mp3","nprByline":"Lisa Cantrell","audioTrackLength":315,"path":"/futureofyou/442604/i-found-out-my-genetics-makes-me-painfully-sensitive-to-rejection-now-what","audioDuration":330000,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003cstrong>Originally published on Sept 27, 2018\u003c/strong>\u003c/p>\n\u003cp>A few months ago, I ordered a home genetic testing kit. I didn’t do it because I wanted to know about my ancestry. I did it because I’d heard about a genetic variation that can make people more sensitive to rejection — and I was convinced I had it.\u003c/p>\n\u003cp>I have always been a bit overly sensitive. I remember a particularly devastating moment in fourth grade. Ms. Brown had asked a question I knew the answer to. I raised my hand, stretching my whole body up so she would notice. She made eye contact with me, commented that I had already gotten to answer a question that day, and then called on a student behind me.\u003c/p>\n\u003caside class=\"pullquote alignright\">I have long struggled with bouts of depression; my relationships are typically a roller coaster of anxieties. If I were a G-carrier, it could explain so much of what I was experiencing.\u003c/aside>\n\u003cp>I could feel my face flush with embarrassment. A knot started to form in my throat as, almost in a whisper, I asked to be excused, the tears welling up in my eyes. Once I was safe behind the bathroom door, I used my shirt to muffle the sounds of my crying. Simply because the teacher hadn’t called on me.\u003c/p>\n\u003cp>A few years later in middle school, my friend Jennifer slipped a note into my locker saying that she wanted to play with another kid at recess, not me. That night — and for many nights after — I lay curled up in my bed for hours, the note on my nightstand.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>As I got older, it got worse. The emotional pain I experienced in social situations changed how I felt about myself and how I behaved with other people. As an adult, if a friend didn’t respond to a text, I would pull away and avoid them. When someone I barely knew ghosted me, I convinced myself that I wasn’t desirable to anyone.\u003c/p>\n\u003cp>Friends told me I was overreacting. Sure, everyone feels a little hurt by these things, but to become so debilitated each time was a bit over the top, they told me. Finally, in my late 20s, I started to wonder if maybe there was something wrong with me.\u003c/p>\n\u003cp>\u003cstrong>Is Oversensitivity Biological?\u003c/strong>\u003c/p>\n\u003cp>In 2009, \u003ca href=\"http://www.pnas.org/content/106/35/15079\">a ground-breaking study\u003c/a> investigated the link between emotional sensitivity and our genetics. Scientists already knew that a particular gene, the OPRM1 gene, could influence our sensitivity to physical pain. \u003ca href=\"https://www.ncbi.nlm.nih.gov/pubmed/18719451\">Previous studies\u003c/a> had shown that people with a G allele on this gene required higher doses of morphine to curb pain, suggesting they experience pain more intensely than others. Because \u003ca href=\"https://www.kqed.org/futureofyou/175807/can-taking-tylenol-help-you-get-over-a-romantic-breakup-maybe\">physical pain and emotional pain are processed in similar regions of the brain\u003c/a>, researchers wondered if G-allele carriers might also experience more intense \u003cem>emotional \u003c/em>pain.\u003c/p>\n\u003cp>To test the question, neuroscientists at the University of California Los Angeles recruited 122 people, 49 of whom were G-carriers, the rest of whom were not. Participants came into the lab and played a computer game intended to evoke feelings of rejection. In the game, each participant would toss a ball back and forth to two other virtual players on a screen. The two players would, at some point, exclude the participant. Meanwhile, the participant lay in a functional magnetic resonance imaging (fMRI) brain scanner that measured blood flow to the pain regions of the brain.\u003c/p>\n\u003cfigure id=\"attachment_443244\" class=\"wp-caption aligncenter\" style=\"max-width: 640px\">\u003cimg class=\"size-large wp-image-443244\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-1020x381.jpg\" alt=\"Brain scan showing yellow dots\" width=\"640\" height=\"239\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-1020x381.jpg 1020w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-160x60.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-800x299.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-768x287.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-1200x448.jpg 1200w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-1920x717.jpg 1920w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-1180x441.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-960x359.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-240x90.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-375x140.jpg 375w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/4_dACC-and-aI-labelled-520x194.jpg 520w\" sizes=\"(max-width: 640px) 100vw, 640px\">\u003cfigcaption class=\"wp-caption-text\">fMRI scan of brain showing activation of pain regions (including the dorsal anterior cingulate cortex). The image comes from a study in which participants played “Cyberball” while lying in the fMRI scanner—a game designed to induce feelings of rejection. \u003ccite>(Baldwin Way)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>“What the researchers found was that there was an exaggerated response [in G carriers],” says Jon-Kar Zubieta, a psychiatric researcher at the University of Utah. “Individuals who were G-allele carriers had greater responses to the negative emotional challenge, which was associated with greater activation of the anterior cingulate cortex,” a pain region of the brain.\u003c/p>\n\u003cp>I had called up Zubieta to get his take on the research for this story — but my questions were also personally motivated.\u003c/p>\n\u003cp>“G-carriers seem to have less capacity to compensate for negative emotion,” he told me. And it doesn’t matter whether that negative emotion is in response to physical pain or the social pain of rejection, like what study participants experienced during the ball-tossing game.\u003c/p>\n\u003cp>Zubieta also told me that G-carriers — who make up 15 to 20 percent of the general population — not only feel more hurt in everyday social interactions, “these individuals \u003ca href=\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4330509/\">have traits\u003c/a> that make them more prone to developing conditions such as depression and anxiety.”\u003c/p>\n\u003cfigure id=\"attachment_443245\" class=\"wp-caption aligncenter\" style=\"max-width: 600px\">\u003cimg class=\"wp-image-443245 size-full\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2018/07/Zubieta.jpg\" alt=\"A man speaks in front of a white board.\" width=\"600\" height=\"400\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2018/07/Zubieta.jpg 600w, https://ww2.kqed.org/app/uploads/sites/13/2018/07/Zubieta-160x107.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2018/07/Zubieta-240x160.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2018/07/Zubieta-375x250.jpg 375w, https://ww2.kqed.org/app/uploads/sites/13/2018/07/Zubieta-520x347.jpg 520w\" sizes=\"(max-width: 600px) 100vw, 600px\">\u003cfigcaption class=\"wp-caption-text\">Jon-Kar Zubieta, Chairman of the Department of Psychiatry and Psychiatrist-in-Chief of the University of Utah Neuropsychiatric Institute. \u003ccite>(University of Utah Health)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Listening to Zubieta recount such findings, I found myself nodding my head. All of it resonated with me. I have long struggled with bouts of depression; my relationships are typically a roller coaster of anxieties. If I were a G-carrier, it could explain so much of what I was experiencing.\u003c/p>\n\u003cp>\u003cstrong>Why Do G-Carriers Feel More Pain?\u003c/strong>\u003c/p>\n\u003cp>When the genetic kit finally arrived at my house, I opened it and pulled out the clear test tube. I collected my saliva, sealed it back up, and shipped it off to the lab to be tested.\u003c/p>\n\u003cp>In the weeks I spent waiting for my results, I looked up more research on how the OPRM1 gene could lead to a heightened sense of pain.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"emailsignup","attributes":{"named":{"newslettername":"science","align":"right","label":""},"numeric":[]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>As it turns out, the gene controls the number of opioid receptors in the brain. In a typical brain, when a person is experiencing pain, neurons fire in regions such as the anterior cingulate cortex. In response, the body releases endorphins — our natural pain killers. The endorphins rush into the brain and attach to neuron receptors, inhibiting those cells from firing, effectively stopping the pain signal. This process is actually what happens during the “runner’s high,” and the same process occurs for most people when they experience the pain of rejection.\u003c/p>\n\u003cp>However, if a person doesn’t have enough opioid receptors or doesn’t release a sufficient amount of endorphins, they could experience more suffering than others. Zubieta says this is likely what happens to G-carriers; they appear to have fewer receptors in critical areas of the brain and, he adds, “they may have less capacity to release natural opioids in general.” This means, Zubieta says, that G-carriers “have less capacity to suppress responses to pain.”\u003c/p>\n\u003cp>\u003cstrong>So … Am I A G-Carrier?\u003c/strong>\u003c/p>\n\u003cp>Several weeks after shipping off my saliva, I was at home when an email popped up in my inbox; my results had come in. My stomach dropped and I sat staring at the unopened email for a few minutes.\u003c/p>\n\u003cp>What would it mean if I were a G-carrier? It would feel validating, of course. For so long I had felt like I was emotionally weak. If I were a G-carrier then it would mean there was a biological explanation for my feelings. It would mean that I hadn’t been overreacting all these years; rather, I had been reacting proportionally to the pain I was feeling — pain that 80 to 85 percent of the population simply doesn’t feel.\u003c/p>\n\u003cp>On the other hand, if I weren’t a G-carrier, I wasn’t sure where that would leave me. I could feel my heart beating faster. My hands shook slightly as I struggled to steady my breathing.\u003c/p>\n\u003cp>I opened the email and scrolled through lines of the genetic code until I found the OPRM1 gene on chromosome 6. Typed in small font was a “G.”\u003c/p>\n\u003cfigure id=\"attachment_442608\" class=\"wp-caption alignright\" style=\"max-width: 240px\">\u003cimg class=\"size-full wp-image-442608\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2018/06/RS31383_CANTRELL_003-sfi.jpg\" alt=\"\" width=\"240\" height=\"360\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2018/06/RS31383_CANTRELL_003-sfi.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2018/06/RS31383_CANTRELL_003-sfi-160x240.jpg 160w\" sizes=\"(max-width: 240px) 100vw, 240px\">\u003cfigcaption class=\"wp-caption-text\">Lisa Cantrell stretches prior to running at Dolores Park in San Francisco, Calif., on Monday, June 11, 2018. \u003ccite>(Lauren Hanussak/KQED)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cstrong>What Now?\u003c/strong>\u003c/p>\n\u003cp>So am I stuck with unbearable pain forever? A prisoner to my genetics? On the phone with Zubieta, I ask him if a G-carrier like me could do anything about it.\u003c/p>\n\u003cp>“You have to remember that the opioid system becomes active when there are things like exercise or stressors,” so when you do physically demanding sports or activities that in some way cause pain “you are training the system.” In other words, Zubieta says, you can modify your brain’s response.\u003c/p>\n\u003cp>The advice makes sense. Exercise not only releases endorphins that decrease pain in the moment, regularly challenging your body with physical activity can strengthen the overall functioning of the opioid system, potentially prompting your brain to create new receptors and urging your body to increase the amount of endorphins released each time you experience a stressor.\u003c/p>\n\u003cp>All of this could make the system more optimal, more prepared to kick into full gear when it encounters pain, be it physical or emotional. Interestingly, \u003ca href=\"https://www.sciencedirect.com/science/article/abs/pii/003193849190418N\">chocolate\u003c/a> and \u003ca href=\"http://rspb.royalsocietypublishing.org/content/early/2011/09/12/rspb.2011.1373.short\">laughter\u003c/a> may also help — they bump up endorphin release, which could alleviate pain in the moment as well as have longer term effects.\u003c/p>\n\u003cp>Zubieta continued with his suggestions. “So you could do yoga… or run marathons.” Something physically demanding, he says.\u003c/p>\n\u003cp>“I’m not sure about a marathon,” I laugh.\u003c/p>\n\u003cp>But the idea stuck with me as I hung up the phone.\u003c/p>\n\u003cp>I do envision a life for myself someday in which I have slightly thicker skin — a life in which I don’t cry because a friend forgets to return my text. So, after a few days of mulling it over, I decide to take Zubieta’s advice.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"floatright"},"numeric":["floatright"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>For the past two months I have been on a strict running schedule, gradually increasing my miles, preparing for a half marathon I’m signed up to run next month. Is the physical training helping me tame my emotions? It’s hard to say. I have definitely experienced moments of rejection over the last few weeks that I feel have been easier to deal with. But it’s hard to know if the marathon training is the cause of my increased ability to cope, or if it’s just the power of having a label. Maybe just knowing I’m a G-carrier — knowing that my pain might be more intense than others — is what I have needed all along. My own self-awareness might just be the first real step in changing how I react to the world.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/442604/i-found-out-my-genetics-makes-me-painfully-sensitive-to-rejection-now-what","authors":["byline_futureofyou_442604"],"categories":["futureofyou_73","futureofyou_1064"],"tags":["futureofyou_1275","futureofyou_120","futureofyou_80"],"featImg":"futureofyou_444781","label":"source_futureofyou_442604"},"futureofyou_445693":{"type":"posts","id":"futureofyou_445693","meta":{"index":"posts_1591205157","site":"futureofyou","id":"445693","score":null,"sort":[1543824116000]},"guestAuthors":[],"slug":"medical-detectives-the-last-hope-for-families-coping-with-rare-diseases","title":"Medical Detectives: The Last Hope for Families Coping With Rare Diseases","publishDate":1543824116,"format":"audio","headTitle":"KQED Future of You | KQED Science","labelTerm":{"site":"futureofyou"},"content":"\u003cp>All over the country, specialized strike teams of doctors are giving hope to families who are desperately searching for a diagnosis.\u003c/p>\n\u003cp>The medical sleuths have cracked more than a third of the 382 patient cases they're pursuing, according to a recent \u003ca href=\"https://www.nejm.org/doi/full/10.1056/NEJMoa1714458?query=featured_home\" target=\"_blank\" rel=\"noopener\">paper\u003c/a> in the New England Journal of Medicine.\u003c/p>\n\u003cp>The specialists, scattered across 12 clinics nationwide, form the \u003ca href=\"https://undiagnosed.hms.harvard.edu/\" target=\"_blank\" rel=\"noopener\">Undiagnosed Disease Network \u003c/a>(UDN). Since the program began in 2014 they've identified 31 previously unknown syndromes.\u003c/p>\n\u003caside class=\"pullquote alignright\">'One letter of 6 billion can cause these incredibly devastating diseases.'\u003ccite>Euan Ashley, Stanford University cardiologist\u003c/cite>\u003c/aside>\n\u003cp>“It was like Sherlock Holmes,\" says Euan Ashley, a professor of medicine at Stanford University. \"Patients would come with mystery diseases and we would try and solve them.”\u003c/p>\n\u003cp>Although rare diseases are individually very uncommon, collectively they're surprisingly pervasive. In fact, if grouped together into a single category, they afflict \u003ca href=\"https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases\" target=\"_blank\" rel=\"noopener\">one in 20\u003c/a> people in the population. That's on par with \u003ca href=\"http://www.who.int/news-room/fact-sheets/detail/diabetes\" target=\"_blank\" rel=\"noopener\">diabetes\u003c/a>, which is often described as a national epidemic.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>For the people coping with mystery conditions, cracking these cases can be life-saving or life-changing. Take the perplexing case of the two Miller boys from Marin County.\u003c/p>\n\u003cp>\u003cstrong>Disabled Bodies, Warm Hearts\u003c/strong>\u003c/p>\n\u003cp>Five-year-old Chase and seven-year-old Carson have alert minds and radiant smiles but very uncooperative bodies. The blond blue-eyed brothers are not able to sit, stand, speak or feed themselves. They've spent their lives in wheelchairs.\u003c/p>\n\u003cp>Even though they attend a mainstream elementary school and are cognitively functioning on par with their peers, they are both still in diapers. The boys require constant care at home or attentive individual aides in the classroom.\u003c/p>\n\u003cfigure id=\"attachment_445696\" class=\"wp-caption alignright\" style=\"max-width: 800px\">\u003cimg class=\"size-medium wp-image-445696\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-800x1100.jpg\" alt=\"\" width=\"800\" height=\"1100\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-800x1100.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-160x220.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-768x1056.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-1020x1402.jpg 1020w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-873x1200.jpg 873w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-1180x1622.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-960x1319.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-240x330.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-375x515.jpg 375w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-520x715.jpg 520w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878.jpg 1274w\" sizes=\"(max-width: 800px) 100vw, 800px\">\u003cfigcaption class=\"wp-caption-text\">Chase Miller using a walker. \u003ccite>(Andrew Ross-Perry)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cstrong>A Four-Year Diagnostic Odyssey\u003c/strong>\u003c/p>\n\u003cp>Seven years ago the boys' parents, Nikki and Danny Miller, began noticing their first son wasn’t reaching milestones like rolling over or crawling. Instead, they witnessed spastic movements and tiny hands repeatedly balling into fists. Babbling never turned into words.\u003c/p>\n\u003cp>When Carson was about a year old he was misdiagnosed with cerebral palsy. Then when the same developmental delays emerged in their second-born, the parents started asking more questions, which led to a four-year diagnostic odyssey with countless inconclusive lab tests. One after another, specialists shrugged their shoulders.\u003c/p>\n\u003cp>“It’s really tough because as a parent you blame yourself,\" says Danny. \"What did I do wrong? Is there something wrong with my genes?”\u003c/p>\n\u003cfigure id=\"attachment_445698\" class=\"wp-caption alignright\" style=\"max-width: 1440px\">\u003cimg class=\"wp-image-445698 size-full\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2018/11/IMG_6670-e1543531634836.jpg\" alt=\"\" width=\"1440\" height=\"1920\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836.jpg 1440w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-160x213.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-800x1067.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-768x1024.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-1020x1360.jpg 1020w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-900x1200.jpg 900w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-1180x1573.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-960x1280.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-240x320.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-375x500.jpg 375w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-520x693.jpg 520w\" sizes=\"(max-width: 1440px) 100vw, 1440px\">\u003cfigcaption class=\"wp-caption-text\">Carson Miller in his wheelchair. \u003ccite>(Andrew Ross-Perry)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cstrong>Cracking the Case\u003c/strong>\u003c/p>\n\u003cp>Finally, two years ago Danny applied to the Stanford UDN clinic. After reviewing the boys' medical history, researchers ordered full genome sequencing for all four family members. It was the first time every \u003cem>one\u003c/em> of their 20,000 genes would be mapped. Until recently this type of extensive testing was prohibitively expensive.\u003c/p>\n\u003cp>“We're rapidly moving to the point where it makes more sense to go straight to the genome rather than measuring one gene, then another, then another,” says Ashley as he pulls out his laptop to point out the clue within the family’s genetics.\u003c/p>\n\u003cp>The screen is divided into several rows and columns with long strings of letters that code for human DNA. Ashley points to a colored section in the MECR gene.\u003c/p>\n\u003cp>“You can see the two boys have inherited this variant that came from their father,” says Ashley. “One letter of 6 billion can cause these incredibly devastating diseases,\" says Ashley.\u003c/p>\n\u003cp>Unfortunately, the boys also inherited a different variant from their mother in the same gene. Neither of the boys' two copies of the gene works properly, which is why Carson and Chase have a brain disease called \u003ca href=\"https://rarediseases.info.nih.gov/diseases/13488/mepan-syndrome\">MEPAN syndrome\u003c/a>. The genetic mutation affects the part of the brain that controls movement. Only 13 people in the world are currently known to have it, and there is only one published scientific \u003ca href=\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142118/\">paper\u003c/a> on it.\u003c/p>\n\u003cp>Currently, there is no treatment for MEPAN, but Danny and Nikki are hoping a heavy cocktail of vitamins and supplements will slow their boys’ brain decline. The parents also take the boys to physical, occupational and speech therapy to strengthen their muscles and teach them life skills. The boys communicate with computers attached to their wheelchairs.\u003c/p>\n\u003cp>Discovering what was wrong was only a single step on the family's journey, though a crucial one. A diagnosis is key to refining treatment and potentially attracting more scientific interest, which may someday lead to a cure.\u003c/p>\n\u003cp>The father's voice cracks as he contemplates the road ahead.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>“Recently at school Carson built a sentence that said, ‘I hate my wheelchair,’” recalls Danny. “Because I know that he wants to be up running around, playing tag, and hide and seek with the other kids. That may not be the way things work out. But I’m going to do everything in my power to try and make sure that does happen.”\u003c/p>\n\n","blocks":[],"excerpt":"A unique national network of doctors provides hope and answers for families who have nowhere else to turn. ","status":"publish","parent":0,"modified":1543970277,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":25,"wordCount":842},"headData":{"title":"Medical Detectives: The Last Hope for Families Coping With Rare Diseases | KQED","description":"A unique national network of doctors provides hope and answers for families who have nowhere else to turn. ","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"Medical Detectives: The Last Hope for Families Coping With Rare Diseases","datePublished":"2018-12-03T08:01:56.000Z","dateModified":"2018-12-05T00:37:57.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"445693 https://ww2.kqed.org/futureofyou/?p=445693","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/12/03/medical-detectives-the-last-hope-for-families-coping-with-rare-diseases/","disqusTitle":"Medical Detectives: The Last Hope for Families Coping With Rare Diseases","audioUrl":"https://www.kqed.org/.stream/anon/radio/science/2018/12/McClurgUndiagnosedDiseaseNetwork.mp3","audioTrackLength":429,"path":"/futureofyou/445693/medical-detectives-the-last-hope-for-families-coping-with-rare-diseases","parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>All over the country, specialized strike teams of doctors are giving hope to families who are desperately searching for a diagnosis.\u003c/p>\n\u003cp>The medical sleuths have cracked more than a third of the 382 patient cases they're pursuing, according to a recent \u003ca href=\"https://www.nejm.org/doi/full/10.1056/NEJMoa1714458?query=featured_home\" target=\"_blank\" rel=\"noopener\">paper\u003c/a> in the New England Journal of Medicine.\u003c/p>\n\u003cp>The specialists, scattered across 12 clinics nationwide, form the \u003ca href=\"https://undiagnosed.hms.harvard.edu/\" target=\"_blank\" rel=\"noopener\">Undiagnosed Disease Network \u003c/a>(UDN). Since the program began in 2014 they've identified 31 previously unknown syndromes.\u003c/p>\n\u003caside class=\"pullquote alignright\">'One letter of 6 billion can cause these incredibly devastating diseases.'\u003ccite>Euan Ashley, Stanford University cardiologist\u003c/cite>\u003c/aside>\n\u003cp>“It was like Sherlock Holmes,\" says Euan Ashley, a professor of medicine at Stanford University. \"Patients would come with mystery diseases and we would try and solve them.”\u003c/p>\n\u003cp>Although rare diseases are individually very uncommon, collectively they're surprisingly pervasive. In fact, if grouped together into a single category, they afflict \u003ca href=\"https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases\" target=\"_blank\" rel=\"noopener\">one in 20\u003c/a> people in the population. That's on par with \u003ca href=\"http://www.who.int/news-room/fact-sheets/detail/diabetes\" target=\"_blank\" rel=\"noopener\">diabetes\u003c/a>, which is often described as a national epidemic.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>For the people coping with mystery conditions, cracking these cases can be life-saving or life-changing. Take the perplexing case of the two Miller boys from Marin County.\u003c/p>\n\u003cp>\u003cstrong>Disabled Bodies, Warm Hearts\u003c/strong>\u003c/p>\n\u003cp>Five-year-old Chase and seven-year-old Carson have alert minds and radiant smiles but very uncooperative bodies. The blond blue-eyed brothers are not able to sit, stand, speak or feed themselves. They've spent their lives in wheelchairs.\u003c/p>\n\u003cp>Even though they attend a mainstream elementary school and are cognitively functioning on par with their peers, they are both still in diapers. The boys require constant care at home or attentive individual aides in the classroom.\u003c/p>\n\u003cfigure id=\"attachment_445696\" class=\"wp-caption alignright\" style=\"max-width: 800px\">\u003cimg class=\"size-medium wp-image-445696\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-800x1100.jpg\" alt=\"\" width=\"800\" height=\"1100\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-800x1100.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-160x220.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-768x1056.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-1020x1402.jpg 1020w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-873x1200.jpg 873w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-1180x1622.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-960x1319.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-240x330.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-375x515.jpg 375w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878-520x715.jpg 520w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/Millers-20171124-12-e1543531375878.jpg 1274w\" sizes=\"(max-width: 800px) 100vw, 800px\">\u003cfigcaption class=\"wp-caption-text\">Chase Miller using a walker. \u003ccite>(Andrew Ross-Perry)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cstrong>A Four-Year Diagnostic Odyssey\u003c/strong>\u003c/p>\n\u003cp>Seven years ago the boys' parents, Nikki and Danny Miller, began noticing their first son wasn’t reaching milestones like rolling over or crawling. Instead, they witnessed spastic movements and tiny hands repeatedly balling into fists. Babbling never turned into words.\u003c/p>\n\u003cp>When Carson was about a year old he was misdiagnosed with cerebral palsy. Then when the same developmental delays emerged in their second-born, the parents started asking more questions, which led to a four-year diagnostic odyssey with countless inconclusive lab tests. One after another, specialists shrugged their shoulders.\u003c/p>\n\u003cp>“It’s really tough because as a parent you blame yourself,\" says Danny. \"What did I do wrong? Is there something wrong with my genes?”\u003c/p>\n\u003cfigure id=\"attachment_445698\" class=\"wp-caption alignright\" style=\"max-width: 1440px\">\u003cimg class=\"wp-image-445698 size-full\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2018/11/IMG_6670-e1543531634836.jpg\" alt=\"\" width=\"1440\" height=\"1920\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836.jpg 1440w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-160x213.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-800x1067.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-768x1024.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-1020x1360.jpg 1020w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-900x1200.jpg 900w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-1180x1573.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-960x1280.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-240x320.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-375x500.jpg 375w, https://ww2.kqed.org/app/uploads/sites/13/2018/11/IMG_6670-e1543531634836-520x693.jpg 520w\" sizes=\"(max-width: 1440px) 100vw, 1440px\">\u003cfigcaption class=\"wp-caption-text\">Carson Miller in his wheelchair. \u003ccite>(Andrew Ross-Perry)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cstrong>Cracking the Case\u003c/strong>\u003c/p>\n\u003cp>Finally, two years ago Danny applied to the Stanford UDN clinic. After reviewing the boys' medical history, researchers ordered full genome sequencing for all four family members. It was the first time every \u003cem>one\u003c/em> of their 20,000 genes would be mapped. Until recently this type of extensive testing was prohibitively expensive.\u003c/p>\n\u003cp>“We're rapidly moving to the point where it makes more sense to go straight to the genome rather than measuring one gene, then another, then another,” says Ashley as he pulls out his laptop to point out the clue within the family’s genetics.\u003c/p>\n\u003cp>The screen is divided into several rows and columns with long strings of letters that code for human DNA. Ashley points to a colored section in the MECR gene.\u003c/p>\n\u003cp>“You can see the two boys have inherited this variant that came from their father,” says Ashley. “One letter of 6 billion can cause these incredibly devastating diseases,\" says Ashley.\u003c/p>\n\u003cp>Unfortunately, the boys also inherited a different variant from their mother in the same gene. Neither of the boys' two copies of the gene works properly, which is why Carson and Chase have a brain disease called \u003ca href=\"https://rarediseases.info.nih.gov/diseases/13488/mepan-syndrome\">MEPAN syndrome\u003c/a>. The genetic mutation affects the part of the brain that controls movement. Only 13 people in the world are currently known to have it, and there is only one published scientific \u003ca href=\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142118/\">paper\u003c/a> on it.\u003c/p>\n\u003cp>Currently, there is no treatment for MEPAN, but Danny and Nikki are hoping a heavy cocktail of vitamins and supplements will slow their boys’ brain decline. The parents also take the boys to physical, occupational and speech therapy to strengthen their muscles and teach them life skills. The boys communicate with computers attached to their wheelchairs.\u003c/p>\n\u003cp>Discovering what was wrong was only a single step on the family's journey, though a crucial one. A diagnosis is key to refining treatment and potentially attracting more scientific interest, which may someday lead to a cure.\u003c/p>\n\u003cp>The father's voice cracks as he contemplates the road ahead.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>“Recently at school Carson built a sentence that said, ‘I hate my wheelchair,’” recalls Danny. “Because I know that he wants to be up running around, playing tag, and hide and seek with the other kids. That may not be the way things work out. But I’m going to do everything in my power to try and make sure that does happen.”\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/445693/medical-detectives-the-last-hope-for-families-coping-with-rare-diseases","authors":["11229"],"categories":["futureofyou_1","futureofyou_73","futureofyou_1575"],"tags":["futureofyou_1275","futureofyou_120","futureofyou_39","futureofyou_80","futureofyou_1332","futureofyou_1639"],"featImg":"futureofyou_445695","label":"futureofyou"},"futureofyou_439593":{"type":"posts","id":"futureofyou_439593","meta":{"index":"posts_1591205157","site":"futureofyou","id":"439593","score":null,"sort":[1519179879000]},"guestAuthors":[],"slug":"to-lose-weight-what-you-eat-is-more-important-than-how-much-study-finds","title":"To Lose Weight, Focus on What You Eat, Not How Much: Study","publishDate":1519179879,"format":"image","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>There is not a clear winner in the battle between low-fat or low-carb diets, according to a new \u003ca href=\"https://jamanetwork.com/journals/jama/article-abstract/2673150?redirect=true\" target=\"_blank\" rel=\"noopener\">study\u003c/a> published Tuesday in JAMA. The study, from Stanford University researchers, found that the nutritional value of foods is more important to weight loss than whether you exclude fats or carbohydrates.\u003c/p>\n\u003cp>Researchers monitored the diets of more than 600 overweight adults. Even though the subjects did not focus on cutting calories, they lost an average of about 12 pounds over the course of a year. The weight changes ranged from a reduction of 60 pounds to a gain of 15.\u003c/p>\n\u003cp>The study randomly assigned participants to reduce fat or carbohydrate intake. Subjects were not provided with food. Rather, they sat through 22 health education classes, where they learned how to shop, cook and dine nutritiously. They were also encouraged to be physically active.\u003c/p>\n\u003caside class=\"pullquote alignright\">Those who ate the fewest processed foods, sugary drinks and unhealthy fats while eating the most vegetables lost the most weight, regardless of whether they followed a low-carb or low-fat diet.\u003c/aside>\n\u003cp>The results, based on self-reports from the study subjects, showed that both the low-carb and low-fat groups reduced their daily calorie intake by an average of about 500 calories. Being assigned to the low-carb or low-fat group didn't affect the results.\u003c/p>\n\u003cp>\u003cstrong>Not All Calories Are the Same\u003c/strong>\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>What did matter across both groups was the type of carbohydrates or fats participants consumed: Those who ate the fewest processed foods, sugary drinks and unhealthy fats while eating the most vegetables lost the most weight.\u003c/p>\n\u003cp>“Without focusing on calorie restriction,” said lead author Christopher Gardner in an email, “Our participants reported achieving calorie restriction, and in fact lost weight.”\u003c/p>\n\u003cp>Potentially participants felt more satiated by eating a healthier diet.\u003c/p>\n\u003cp>“If you reduce starch and sugar and you increase minimally processed healthful foods like vegetables, weight will go down naturally,\" said Dariush Mozaffarian, a cardiologist and nutrition expert\u003cstrong> \u003c/strong>at Tufts University who is not connected to the study\u003cstrong>.\" \u003c/strong>About 10 pounds a year, which is pretty substantial.”\u003c/p>\n\u003cp>\u003cstrong>No Silver Bullet\u003c/strong>\u003c/p>\n\u003cp>The results add to a growing body of \u003ca href=\"https://www.ncbi.nlm.nih.gov/pubmed/25182101\">research\u003c/a> calling fad diets into question. Scientists have yet to corroborate any alleged silver bullet for losing weight, and \u003ca href=\"https://www.ncbi.nlm.nih.gov/pubmed/16476868\">studies\u003c/a> have found \u003ca href=\"https://www.ncbi.nlm.nih.gov/pubmed/25182101\">negligible differences\u003c/a> in reducing capabilities between low-carb and low-fat diets.\u003c/p>\n\u003cp>Mozaffarian specifically questions the mantra that all carbs are bad.\u003c/p>\n\u003cp>\"The carbs that we should be avoiding are those that come in high doses and are digested very quickly, what you might call fast carbs,\" he says. He recommends tossing out refined flours, potatoes and sugars and stocking up on fruits, beans and minimally processed whole grains.\u003c/p>\n\u003cp>The health outcomes of the participants also improved by changing what they ate. Body fat, body mass index, waist circumference, triglycerides, blood pressure, fasting glucose and insulin went down for both the low-fat and the low-carb groups.\u003c/p>\n\u003cp>\u003cstrong>Precision Medicine Takes a Hit\u003c/strong>\u003c/p>\n\u003cp>At the beginning of the study, participants underwent analysis to identify genetic variations that are linked to how the body processes fats or carbohydrates, which the researchers thought would make each individual more likely to lose weight on a low-fat or low-carb diet. Previous research had suggested that genes could interact with different types of diets to influence weight loss. The participants' insulin levels were also taken.\u003c/p>\n\u003cp>[contextly_sidebar id=\"lR73EJFQlezW1NDSbIIGP6dv8VCGeXmF\"]But neither their genetic makeup nor insulin resistance mattered in how successful the participants were in losing weight, the study found. These results suggest that “precision medicine is not as important as eating mindfully [and] getting rid of packaged, processed food,” said lead author Christopher Gardner. To achieve the former, he recommends avoiding screens while dining, shopping at farmers markets and sitting down for meals with friends and family.\u003c/p>\n\u003cp>\u003cstrong>Other Experts Weigh In\u003c/strong>\u003c/p>\n\u003cp>The study was well-conducted, says Dr. David Ludwig, a Boston Children’s Hospital obesity researcher. But because participants were not provided with specific foods and self-reported their choices, he says, it wasn’t rigorous enough to disprove the idea that certain genes and insulin levels may affect which types of diets lead to weight loss.\u003c/p>\n\u003cp>Dr. Frank Hu, nutrition chief at Harvard’s School of Public Health who has called precision nutrition a promising approach, says the study wasn’t a comprehensive test of all gene variations that might affect individual responses to weight loss diets.\u003c/p>\n\u003cp>“In any weight loss diets, adherence to the diet and the overall quality of the diet are probably more important than any other factors,” Hu says.\u003c/p>\n\u003cp>\u003cstrong>Still On The Hunt\u003c/strong>\u003c/p>\n\u003cp>Stanford researchers plan to continue combing through the data to see if other biological factors, such as those linked to individual microbiomes or to epigenetics, for example, impacted the results. Gardener has a hunch that one key factor is satiety: Some people might feel full after eating a bowl of steel cut oats for breakfast, for instance, while others still feel hungry. Meanwhile, the same people unsatiated by oatmeal might do better with eggs and an avocado.\u003c/p>\n\u003cp>\"I think the next level of personalization is really thinking about which good carbs and which good fat foods are more satiating for some people than others,\" Gardner says.\u003c/p>\n\u003cp>\u003cem>The Associated Press contributed to this report and the content has been edited.\u003c/em>\u003c/p>\n\u003cp>\u003c/p>\n\u003cp> \u003c/p>\n\n","blocks":[],"excerpt":"Eating healthier foods and not following a low-fat or low-carb diet determined dieting success in Stanford study.","status":"publish","parent":0,"modified":1519695424,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":27,"wordCount":908},"headData":{"title":"To Lose Weight, Focus on What You Eat, Not How Much: Study | KQED","description":"Eating healthier foods and not following a low-fat or low-carb diet determined dieting success in Stanford study.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"To Lose Weight, Focus on What You Eat, Not How Much: Study","datePublished":"2018-02-21T02:24:39.000Z","dateModified":"2018-02-27T01:37:04.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"439593 https://ww2.kqed.org/futureofyou/?p=439593","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/02/20/to-lose-weight-what-you-eat-is-more-important-than-how-much-study-finds/","disqusTitle":"To Lose Weight, Focus on What You Eat, Not How Much: Study","source":"Hope/Hype","sourceUrl":"KQED Future of You","path":"/futureofyou/439593/to-lose-weight-what-you-eat-is-more-important-than-how-much-study-finds","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>There is not a clear winner in the battle between low-fat or low-carb diets, according to a new \u003ca href=\"https://jamanetwork.com/journals/jama/article-abstract/2673150?redirect=true\" target=\"_blank\" rel=\"noopener\">study\u003c/a> published Tuesday in JAMA. The study, from Stanford University researchers, found that the nutritional value of foods is more important to weight loss than whether you exclude fats or carbohydrates.\u003c/p>\n\u003cp>Researchers monitored the diets of more than 600 overweight adults. Even though the subjects did not focus on cutting calories, they lost an average of about 12 pounds over the course of a year. The weight changes ranged from a reduction of 60 pounds to a gain of 15.\u003c/p>\n\u003cp>The study randomly assigned participants to reduce fat or carbohydrate intake. Subjects were not provided with food. Rather, they sat through 22 health education classes, where they learned how to shop, cook and dine nutritiously. They were also encouraged to be physically active.\u003c/p>\n\u003caside class=\"pullquote alignright\">Those who ate the fewest processed foods, sugary drinks and unhealthy fats while eating the most vegetables lost the most weight, regardless of whether they followed a low-carb or low-fat diet.\u003c/aside>\n\u003cp>The results, based on self-reports from the study subjects, showed that both the low-carb and low-fat groups reduced their daily calorie intake by an average of about 500 calories. Being assigned to the low-carb or low-fat group didn't affect the results.\u003c/p>\n\u003cp>\u003cstrong>Not All Calories Are the Same\u003c/strong>\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>What did matter across both groups was the type of carbohydrates or fats participants consumed: Those who ate the fewest processed foods, sugary drinks and unhealthy fats while eating the most vegetables lost the most weight.\u003c/p>\n\u003cp>“Without focusing on calorie restriction,” said lead author Christopher Gardner in an email, “Our participants reported achieving calorie restriction, and in fact lost weight.”\u003c/p>\n\u003cp>Potentially participants felt more satiated by eating a healthier diet.\u003c/p>\n\u003cp>“If you reduce starch and sugar and you increase minimally processed healthful foods like vegetables, weight will go down naturally,\" said Dariush Mozaffarian, a cardiologist and nutrition expert\u003cstrong> \u003c/strong>at Tufts University who is not connected to the study\u003cstrong>.\" \u003c/strong>About 10 pounds a year, which is pretty substantial.”\u003c/p>\n\u003cp>\u003cstrong>No Silver Bullet\u003c/strong>\u003c/p>\n\u003cp>The results add to a growing body of \u003ca href=\"https://www.ncbi.nlm.nih.gov/pubmed/25182101\">research\u003c/a> calling fad diets into question. Scientists have yet to corroborate any alleged silver bullet for losing weight, and \u003ca href=\"https://www.ncbi.nlm.nih.gov/pubmed/16476868\">studies\u003c/a> have found \u003ca href=\"https://www.ncbi.nlm.nih.gov/pubmed/25182101\">negligible differences\u003c/a> in reducing capabilities between low-carb and low-fat diets.\u003c/p>\n\u003cp>Mozaffarian specifically questions the mantra that all carbs are bad.\u003c/p>\n\u003cp>\"The carbs that we should be avoiding are those that come in high doses and are digested very quickly, what you might call fast carbs,\" he says. He recommends tossing out refined flours, potatoes and sugars and stocking up on fruits, beans and minimally processed whole grains.\u003c/p>\n\u003cp>The health outcomes of the participants also improved by changing what they ate. Body fat, body mass index, waist circumference, triglycerides, blood pressure, fasting glucose and insulin went down for both the low-fat and the low-carb groups.\u003c/p>\n\u003cp>\u003cstrong>Precision Medicine Takes a Hit\u003c/strong>\u003c/p>\n\u003cp>At the beginning of the study, participants underwent analysis to identify genetic variations that are linked to how the body processes fats or carbohydrates, which the researchers thought would make each individual more likely to lose weight on a low-fat or low-carb diet. Previous research had suggested that genes could interact with different types of diets to influence weight loss. The participants' insulin levels were also taken.\u003c/p>\n\u003cp>\u003c/p>\u003cp>\u003c/p>\u003cp>But neither their genetic makeup nor insulin resistance mattered in how successful the participants were in losing weight, the study found. These results suggest that “precision medicine is not as important as eating mindfully [and] getting rid of packaged, processed food,” said lead author Christopher Gardner. To achieve the former, he recommends avoiding screens while dining, shopping at farmers markets and sitting down for meals with friends and family.\u003c/p>\n\u003cp>\u003cstrong>Other Experts Weigh In\u003c/strong>\u003c/p>\n\u003cp>The study was well-conducted, says Dr. David Ludwig, a Boston Children’s Hospital obesity researcher. But because participants were not provided with specific foods and self-reported their choices, he says, it wasn’t rigorous enough to disprove the idea that certain genes and insulin levels may affect which types of diets lead to weight loss.\u003c/p>\n\u003cp>Dr. Frank Hu, nutrition chief at Harvard’s School of Public Health who has called precision nutrition a promising approach, says the study wasn’t a comprehensive test of all gene variations that might affect individual responses to weight loss diets.\u003c/p>\n\u003cp>“In any weight loss diets, adherence to the diet and the overall quality of the diet are probably more important than any other factors,” Hu says.\u003c/p>\n\u003cp>\u003cstrong>Still On The Hunt\u003c/strong>\u003c/p>\n\u003cp>Stanford researchers plan to continue combing through the data to see if other biological factors, such as those linked to individual microbiomes or to epigenetics, for example, impacted the results. Gardener has a hunch that one key factor is satiety: Some people might feel full after eating a bowl of steel cut oats for breakfast, for instance, while others still feel hungry. Meanwhile, the same people unsatiated by oatmeal might do better with eggs and an avocado.\u003c/p>\n\u003cp>\"I think the next level of personalization is really thinking about which good carbs and which good fat foods are more satiating for some people than others,\" Gardner says.\u003c/p>\n\u003cp>\u003cem>The Associated Press contributed to this report and the content has been edited.\u003c/em>\u003c/p>\n\u003cp>\u003c/p>\n\u003cp> \u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/439593/to-lose-weight-what-you-eat-is-more-important-than-how-much-study-finds","authors":["11229"],"categories":["futureofyou_452","futureofyou_1062","futureofyou_1","futureofyou_73","futureofyou_1064"],"tags":["futureofyou_1461","futureofyou_597","futureofyou_1462","futureofyou_1275","futureofyou_426","futureofyou_120","futureofyou_80","futureofyou_1406","futureofyou_112","futureofyou_1463"],"featImg":"futureofyou_439683","label":"source_futureofyou_439593"},"futureofyou_439059":{"type":"posts","id":"futureofyou_439059","meta":{"index":"posts_1591205157","site":"futureofyou","id":"439059","score":null,"sort":[1517508872000]},"guestAuthors":[],"slug":"why-even-siblings-can-get-different-ancestry-results-from-dna-tests","title":"Why Family Members Can Get Different Ancestry Results From DNA Tests","publishDate":1517508872,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{"site":"futureofyou"},"content":"\u003cp>Maybe you got one of those find-your-ancestry kits over the holidays. You've sent off your awkwardly-collected saliva sample, and you're awaiting your results. If your experience is anything like that of me and my mom, you may find surprises — not the dramatic \"switched at birth\" kind, but results that are really different from what you expected.\u003c/p>\n\u003caside class=\"pullquote alignright\">While we get half our genes from each parent, a process called recombination means that each egg and each sperm carries a different mix of the genes from each.\u003c/aside>\n\u003cp>My mom, Carmen Grayson, taught history for 45 years, high school and college, retiring from Hampton University in the late 1990s. But retired history professors never really retire, so she has been researching her family's migrations, through both paper records and now a DNA test. Her father was French Canadian, and her mother (my namesake, Gisella D'Appollonia) was born of Italian parents. They moved to Canada about a decade before my grandmother was born in 1909.\u003c/p>\n\u003cp>Last fall, we sent away to get our DNA tested by \u003ca href=\"https://www.helix.com/\">Helix\u003c/a>, the company that works with National Geographic. Mom's results: 31 percent from Italy and Southern Europe. That made sense because of her Italian mother. But \u003cem>my\u003c/em> Helix results didn't even have an \"Italy and Southern European\" category. How could I have 50 percent of Mom's DNA and not have any Italian? We do look alike, and she says there is little chance we were switched at birth.\u003c/p>\n\u003cp>[contextly_sidebar id=\"BCKB7ylkmMa5eccVlIQnzjjA2KxxcRsY\"]We decided to get a second opinion and sent away to another company, \u003ca href=\"https://www.23andme.com/\">23andMe.\u003c/a> We opened our results together and were just as surprised. This time, I at least had a category for southern Europe. But Mom came back as 25 percent southern European, me only 6 percent. And the Italian? Mom had 11.3 percent to my 1.6. So maybe the first test wasn't wrong. But how could I have an Italian grandmother and almost no Italian genes?\u003c/p>\n\u003cp>To answer this question, Mom and I drove up to Baltimore to visit \u003ca href=\"https://www.hopkinsmedicine.org/profiles/results/directory/profile/3205347/aravinda-chakravarti\">Dr. Aravinda Chakravarti\u003c/a> of the Johns Hopkins University School of Medicine and the Bloomberg School of Public Health, who has spent his career studying genetics and human health.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>\"That's surprising,\" he told us when we showed him the results. \"But it may still be in the limits of error that these methods have.\"\u003c/p>\n\u003cp>The science for analyzing one's genome is good, Chakravarti says. But the ways the companies analyze the genes leave lots of room for interpretation. So, he says, these tests \"would be most accurate at the level of continental origins, and as you go to higher and higher resolution, they would become less and less accurate.\"\u003c/p>\n\u003cp>As in my case — the results got me to Europe, just not Italy.\u003c/p>\n\u003cp>My 23andMe test also showed less than 1 percent of South Asian, Sub-Saharan African, and East Asian & Native American. This, Chakravarti says, is likely true because the genetics of people on a continental level are so different, and it's not likely South Asian is going to look like European. \"Resolving a difference between, say, an African genome and an East Asian genome would be easy,\" he says. \"But resolving that same difference between one part of East Asia and another part of East Asia is much more difficult.\"\u003c/p>\n\u003cp>I also learned that even though I got half my genes from Mom, they may not mirror hers.\u003c/p>\n\u003cp>We do have the genes we inherit — 50 percent from each parent. But \u003ca href=\"https://www.helix.com/blog/author/elissa-levin/\">Elissa Levin\u003c/a>, a genetic counselor and the director of policy and clinical affairs of Helix, says a process called recombination means that each egg and each sperm carries a different mix of a parent's genes.\u003c/p>\n\u003cp>\"When we talk about the 50 percent that gets inherited from Mom, there's a chance that you have a recombination that just gave you more of the northwest European part than the Italian part of your Mom's ancestry DNA,\" she says. That is also why siblings can have different ancestry results.\u003c/p>\n\u003cp>The companies compare customers' DNA samples to samples they have from people around the world who have lived in a certain area for generations. The samples come from some databases to which all scientists have access, and the companies may also collect their own.\u003c/p>\n\u003cp>\"We're able to look at, what are the specific markers, what are the specific segments of DNA that we're looking at that help us to identify, 'Those people are from this part of northern Europe or southern Europe or Southeast Asia,' \" Levin says.\u003c/p>\n\u003cp>As the companies collect more samples, their understanding of markers of people of a particular heritage should become more precise. But for now, the smaller the percentage of a population within a continent that is in the database, the less certain they are. Levin says Helix chooses to not report some of those smaller percentages.\u003c/p>\n\u003cp>The 23andMe reports results with a 50 percent confidence interval — they're 50 percent sure their geographic placement is correct. Move the setting up to 90 percent confidence, meaning your placement in a region is 90 percent certain, and that small 1.6 percent of my ancestry that is Italian disappears.\u003c/p>\n\u003cp>The ancestry tests also have to take into account the fact that humans have been migrating for millennia, mixing DNA along the way. To contend with that, the companies' analyses involve some \"random chance,\" as Levin puts it. A computer has to make a decision.\u003c/p>\n\u003cp>And the ancestry companies have to make judgment calls. \u003ca href=\"https://blog.23andme.com/health-traits/a-conversation-health-content-scientist-robin-smith/\">Robin Smith\u003c/a>, a senior product manager with 23andMe, says their computers compare the DNA with 31 groups. \"Let's say a piece of your DNA looks most like British and Irish but it also looks a little bit like French-German,\" he says. \"Based on some statistical measures, we'd decide whether to call that as British-Irish or French-German, or maybe we go up one level and call it northwestern European.\"\u003c/p>\n\u003cp>What does he think explains my case?\u003c/p>\n\u003cp>\"It was a bit surprising,\" he says. \"But in looking at the fact that you have some southern European and some French-German, the picture became a little clearer to me.\"\u003c/p>\n\u003cp>So, for now, my Italian grandmother doesn't show up in these tests. No matter — Chakravarti, Levin and Smith all say let the results \u003cem>add\u003c/em> to your life story. The DNA is just a piece of what makes you you.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\u003cem>Gisele Grayson is a senior producer on NPR's Science Desk who runs the health reporting collaboration with member stations and \u003ca href=\"http://www.kaiserhealthnews.org\">Kaiser Health News\u003c/a>. \u003c/em>\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2018 NPR. To see more, visit http://www.npr.org/.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=My+Grandmother+Was+Italian.+Why+Aren%27t+My+Genes+Italian%3F&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\n","blocks":[],"excerpt":"Popular DNA ancestry tests don't always find what people expect. That is because of how DNA rearranges itself when egg meets sperm — and the quirks of genetic databases.","status":"publish","parent":0,"modified":1517516157,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":24,"wordCount":1125},"headData":{"title":"Why Family Members Can Get Different Ancestry Results From DNA Tests | KQED","description":"Popular DNA ancestry tests don't always find what people expect. That is because of how DNA rearranges itself when egg meets sperm — and the quirks of genetic databases.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"Why Family Members Can Get Different Ancestry Results From DNA Tests","datePublished":"2018-02-01T18:14:32.000Z","dateModified":"2018-02-01T20:15:57.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"439059 https://ww2.kqed.org/futureofyou/?p=439059","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/02/01/why-even-siblings-can-get-different-ancestry-results-from-dna-tests/","disqusTitle":"Why Family Members Can Get Different Ancestry Results From DNA Tests","nprByline":"Gisele Grayson\u003cbr />NPR Shots","nprImageAgency":"Meredith Rizzo/NPR","nprStoryId":"578293890","nprApiLink":"http://api.npr.org/query?id=578293890&apiKey=MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004","nprHtmlLink":"https://www.npr.org/sections/health-shots/2018/01/22/578293890/my-grandmother-was-italian-why-arent-my-genes-italian?ft=nprml&f=578293890","nprRetrievedStory":"1","nprPubDate":"Fri, 26 Jan 2018 13:02:00 -0500","nprStoryDate":"Mon, 22 Jan 2018 05:02:00 -0500","nprLastModifiedDate":"Fri, 26 Jan 2018 13:02:36 -0500","nprAudio":"https://ondemand.npr.org/anon.npr-mp3/npr/me/2018/01/20180122_me_my_grandmother_was_italian_why_arent_my_genes_italian.mp3?orgId=1&topicId=1128&d=229&p=3&story=578293890&ft=nprml&f=578293890","nprAudioM3u":"http://api.npr.org/m3u/1579629388-6f741a.m3u?orgId=1&topicId=1128&d=229&p=3&story=578293890&ft=nprml&f=578293890","path":"/futureofyou/439059/why-even-siblings-can-get-different-ancestry-results-from-dna-tests","audioUrl":"https://ondemand.npr.org/anon.npr-mp3/npr/me/2018/01/20180122_me_my_grandmother_was_italian_why_arent_my_genes_italian.mp3?orgId=1&topicId=1128&d=229&p=3&story=578293890&ft=nprml&f=578293890","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>Maybe you got one of those find-your-ancestry kits over the holidays. You've sent off your awkwardly-collected saliva sample, and you're awaiting your results. If your experience is anything like that of me and my mom, you may find surprises — not the dramatic \"switched at birth\" kind, but results that are really different from what you expected.\u003c/p>\n\u003caside class=\"pullquote alignright\">While we get half our genes from each parent, a process called recombination means that each egg and each sperm carries a different mix of the genes from each.\u003c/aside>\n\u003cp>My mom, Carmen Grayson, taught history for 45 years, high school and college, retiring from Hampton University in the late 1990s. But retired history professors never really retire, so she has been researching her family's migrations, through both paper records and now a DNA test. Her father was French Canadian, and her mother (my namesake, Gisella D'Appollonia) was born of Italian parents. They moved to Canada about a decade before my grandmother was born in 1909.\u003c/p>\n\u003cp>Last fall, we sent away to get our DNA tested by \u003ca href=\"https://www.helix.com/\">Helix\u003c/a>, the company that works with National Geographic. Mom's results: 31 percent from Italy and Southern Europe. That made sense because of her Italian mother. But \u003cem>my\u003c/em> Helix results didn't even have an \"Italy and Southern European\" category. How could I have 50 percent of Mom's DNA and not have any Italian? We do look alike, and she says there is little chance we were switched at birth.\u003c/p>\n\u003cp>\u003c/p>\u003cp>\u003c/p>\u003cp>We decided to get a second opinion and sent away to another company, \u003ca href=\"https://www.23andme.com/\">23andMe.\u003c/a> We opened our results together and were just as surprised. This time, I at least had a category for southern Europe. But Mom came back as 25 percent southern European, me only 6 percent. And the Italian? Mom had 11.3 percent to my 1.6. So maybe the first test wasn't wrong. But how could I have an Italian grandmother and almost no Italian genes?\u003c/p>\n\u003cp>To answer this question, Mom and I drove up to Baltimore to visit \u003ca href=\"https://www.hopkinsmedicine.org/profiles/results/directory/profile/3205347/aravinda-chakravarti\">Dr. Aravinda Chakravarti\u003c/a> of the Johns Hopkins University School of Medicine and the Bloomberg School of Public Health, who has spent his career studying genetics and human health.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\"That's surprising,\" he told us when we showed him the results. \"But it may still be in the limits of error that these methods have.\"\u003c/p>\n\u003cp>The science for analyzing one's genome is good, Chakravarti says. But the ways the companies analyze the genes leave lots of room for interpretation. So, he says, these tests \"would be most accurate at the level of continental origins, and as you go to higher and higher resolution, they would become less and less accurate.\"\u003c/p>\n\u003cp>As in my case — the results got me to Europe, just not Italy.\u003c/p>\n\u003cp>My 23andMe test also showed less than 1 percent of South Asian, Sub-Saharan African, and East Asian & Native American. This, Chakravarti says, is likely true because the genetics of people on a continental level are so different, and it's not likely South Asian is going to look like European. \"Resolving a difference between, say, an African genome and an East Asian genome would be easy,\" he says. \"But resolving that same difference between one part of East Asia and another part of East Asia is much more difficult.\"\u003c/p>\n\u003cp>I also learned that even though I got half my genes from Mom, they may not mirror hers.\u003c/p>\n\u003cp>We do have the genes we inherit — 50 percent from each parent. But \u003ca href=\"https://www.helix.com/blog/author/elissa-levin/\">Elissa Levin\u003c/a>, a genetic counselor and the director of policy and clinical affairs of Helix, says a process called recombination means that each egg and each sperm carries a different mix of a parent's genes.\u003c/p>\n\u003cp>\"When we talk about the 50 percent that gets inherited from Mom, there's a chance that you have a recombination that just gave you more of the northwest European part than the Italian part of your Mom's ancestry DNA,\" she says. That is also why siblings can have different ancestry results.\u003c/p>\n\u003cp>The companies compare customers' DNA samples to samples they have from people around the world who have lived in a certain area for generations. The samples come from some databases to which all scientists have access, and the companies may also collect their own.\u003c/p>\n\u003cp>\"We're able to look at, what are the specific markers, what are the specific segments of DNA that we're looking at that help us to identify, 'Those people are from this part of northern Europe or southern Europe or Southeast Asia,' \" Levin says.\u003c/p>\n\u003cp>As the companies collect more samples, their understanding of markers of people of a particular heritage should become more precise. But for now, the smaller the percentage of a population within a continent that is in the database, the less certain they are. Levin says Helix chooses to not report some of those smaller percentages.\u003c/p>\n\u003cp>The 23andMe reports results with a 50 percent confidence interval — they're 50 percent sure their geographic placement is correct. Move the setting up to 90 percent confidence, meaning your placement in a region is 90 percent certain, and that small 1.6 percent of my ancestry that is Italian disappears.\u003c/p>\n\u003cp>The ancestry tests also have to take into account the fact that humans have been migrating for millennia, mixing DNA along the way. To contend with that, the companies' analyses involve some \"random chance,\" as Levin puts it. A computer has to make a decision.\u003c/p>\n\u003cp>And the ancestry companies have to make judgment calls. \u003ca href=\"https://blog.23andme.com/health-traits/a-conversation-health-content-scientist-robin-smith/\">Robin Smith\u003c/a>, a senior product manager with 23andMe, says their computers compare the DNA with 31 groups. \"Let's say a piece of your DNA looks most like British and Irish but it also looks a little bit like French-German,\" he says. \"Based on some statistical measures, we'd decide whether to call that as British-Irish or French-German, or maybe we go up one level and call it northwestern European.\"\u003c/p>\n\u003cp>What does he think explains my case?\u003c/p>\n\u003cp>\"It was a bit surprising,\" he says. \"But in looking at the fact that you have some southern European and some French-German, the picture became a little clearer to me.\"\u003c/p>\n\u003cp>So, for now, my Italian grandmother doesn't show up in these tests. No matter — Chakravarti, Levin and Smith all say let the results \u003cem>add\u003c/em> to your life story. The DNA is just a piece of what makes you you.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"floatright"},"numeric":["floatright"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003cem>Gisele Grayson is a senior producer on NPR's Science Desk who runs the health reporting collaboration with member stations and \u003ca href=\"http://www.kaiserhealthnews.org\">Kaiser Health News\u003c/a>. \u003c/em>\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2018 NPR. To see more, visit http://www.npr.org/.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=My+Grandmother+Was+Italian.+Why+Aren%27t+My+Genes+Italian%3F&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/439059/why-even-siblings-can-get-different-ancestry-results-from-dna-tests","authors":["byline_futureofyou_439059"],"categories":["futureofyou_1","futureofyou_1064"],"tags":["futureofyou_15","futureofyou_464","futureofyou_120","futureofyou_641"],"featImg":"futureofyou_439061","label":"futureofyou"},"futureofyou_437298":{"type":"posts","id":"futureofyou_437298","meta":{"index":"posts_1591205157","site":"futureofyou","id":"437298","score":null,"sort":[1511301674000]},"guestAuthors":[],"slug":"watch-crisprcas9-in-action-in-this-real-time-movie-of-dna","title":"Watch Real Moving Images of CRISPR/Cas9 Cutting DNA","publishDate":1511301674,"format":"aside","headTitle":"KQED Future of You | KQED Science","labelTerm":{"site":"futureofyou"},"content":"\u003cp>By now you have heard about \u003ca href=\"https://ww2.kqed.org/futureofyou/2017/11/15/explainer-the-new-gene-editing-tool-significantly-more-precise-than-crispr/\">CRISPR/Cas9\u003c/a>. This is the revolutionary new way to fix genes in most any living thing, including people. It has already transformed biological research and is poised to do the same in curing genetic disease.\u003c/p>\n\u003cp>And now you can see a part of the process actually happening in living color, in a direct observation of the enzyme Cas9 cutting a strand of DNA.\u003c/p>\n\u003cp>https://twitter.com/hnisimasu/status/928933260159197184\u003c/p>\n\u003cp>The yellow blob is Cas9, which gets the ball rolling on editing a gene, and the long strands of orange are the DNA. Here, Cas9 scans for the right spot on the DNA to make an incision, then around 30 seconds in makes the cut, creating “cleaved DNA.\" The next step for a successful edit would be for the cell's internal machinery, in the process of mending the cut, to replace the surrounding DNA, hopefully correcting a disease-causing genetic mutation.\u003c/p>\n\u003cp>Researcher Osamu Nureki “filmed” this action by moving a tiny needle back and forth across Cas9. This imaging process is called\u003ca href=\"https://link.springer.com/referenceworkentry/10.1007%2F978-3-642-16712-6_478\" target=\"_blank\" rel=\"noopener\"> high‐speed atomic‐force microscopy\u003c/a>.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>What makes it especially satisfying as a scientist is to see the CRISPR/Cas9 system work its magic, with my own eyes. How processes like gene editing work are, for the most part, inferred indirectly from experiments. To actually see Cas9 do its job is a bit mind-blowing.\u003c/p>\n\u003cp>As a scientist, I find this video unbearably cool.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\u003cem>\u003cspan style=\"font-weight: 400\">Dr. Barry Starr is a scientist in the\u003c/span>\u003ca href=\"https://med.stanford.edu/genetics.html\"> \u003cspan style=\"font-weight: 400\">Department of Genetics\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> at Stanford University who runs the\u003c/span>\u003ca href=\"https://med.stanford.edu/genetics/tech.html\"> \u003cspan style=\"font-weight: 400\">Stanford at The Tech\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> program and the\u003c/span>\u003ca href=\"http://genetics.thetech.org/\"> \u003cspan style=\"font-weight: 400\">Understanding Genetics\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> website with\u003c/span>\u003ca href=\"https://www.thetech.org/\"> \u003cspan style=\"font-weight: 400\">The Tech Museum of Innovation\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> in San Jose CA. Before running the program, he worked as a research scientist in the biotechnology field. \u003c/span>\u003c/em>\u003c/p>\n\n","blocks":[],"excerpt":"Watch the enzyme Cas9 perform one step in the gene-editing process by making an incision in a strand of DNA.","status":"publish","parent":0,"modified":1511311175,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":9,"wordCount":300},"headData":{"title":"Watch Real Moving Images of CRISPR/Cas9 Cutting DNA | KQED","description":"Watch the enzyme Cas9 perform one step in the gene-editing process by making an incision in a strand of DNA.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"Watch Real Moving Images of CRISPR/Cas9 Cutting DNA","datePublished":"2017-11-21T22:01:14.000Z","dateModified":"2017-11-22T00:39:35.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"437298 https://ww2.kqed.org/futureofyou/?p=437298","disqusUrl":"https://ww2.kqed.org/futureofyou/2017/11/21/watch-crisprcas9-in-action-in-this-real-time-movie-of-dna/","disqusTitle":"Watch Real Moving Images of CRISPR/Cas9 Cutting DNA","path":"/futureofyou/437298/watch-crisprcas9-in-action-in-this-real-time-movie-of-dna","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>By now you have heard about \u003ca href=\"https://ww2.kqed.org/futureofyou/2017/11/15/explainer-the-new-gene-editing-tool-significantly-more-precise-than-crispr/\">CRISPR/Cas9\u003c/a>. This is the revolutionary new way to fix genes in most any living thing, including people. It has already transformed biological research and is poised to do the same in curing genetic disease.\u003c/p>\n\u003cp>And now you can see a part of the process actually happening in living color, in a direct observation of the enzyme Cas9 cutting a strand of DNA.\u003c/p>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"singleTwitterStatus","attributes":{"named":{"id":"928933260159197184"},"numeric":[]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\n\u003cp>The yellow blob is Cas9, which gets the ball rolling on editing a gene, and the long strands of orange are the DNA. Here, Cas9 scans for the right spot on the DNA to make an incision, then around 30 seconds in makes the cut, creating “cleaved DNA.\" The next step for a successful edit would be for the cell's internal machinery, in the process of mending the cut, to replace the surrounding DNA, hopefully correcting a disease-causing genetic mutation.\u003c/p>\n\u003cp>Researcher Osamu Nureki “filmed” this action by moving a tiny needle back and forth across Cas9. This imaging process is called\u003ca href=\"https://link.springer.com/referenceworkentry/10.1007%2F978-3-642-16712-6_478\" target=\"_blank\" rel=\"noopener\"> high‐speed atomic‐force microscopy\u003c/a>.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>What makes it especially satisfying as a scientist is to see the CRISPR/Cas9 system work its magic, with my own eyes. How processes like gene editing work are, for the most part, inferred indirectly from experiments. To actually see Cas9 do its job is a bit mind-blowing.\u003c/p>\n\u003cp>As a scientist, I find this video unbearably cool.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\u003cem>\u003cspan style=\"font-weight: 400\">Dr. Barry Starr is a scientist in the\u003c/span>\u003ca href=\"https://med.stanford.edu/genetics.html\"> \u003cspan style=\"font-weight: 400\">Department of Genetics\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> at Stanford University who runs the\u003c/span>\u003ca href=\"https://med.stanford.edu/genetics/tech.html\"> \u003cspan style=\"font-weight: 400\">Stanford at The Tech\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> program and the\u003c/span>\u003ca href=\"http://genetics.thetech.org/\"> \u003cspan style=\"font-weight: 400\">Understanding Genetics\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> website with\u003c/span>\u003ca href=\"https://www.thetech.org/\"> \u003cspan style=\"font-weight: 400\">The Tech Museum of Innovation\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> in San Jose CA. Before running the program, he worked as a research scientist in the biotechnology field. \u003c/span>\u003c/em>\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/437298/watch-crisprcas9-in-action-in-this-real-time-movie-of-dna","authors":["6619"],"categories":["futureofyou_1","futureofyou_1064"],"tags":["futureofyou_94","futureofyou_120","futureofyou_80"],"featImg":"futureofyou_437308","label":"futureofyou"},"futureofyou_435960":{"type":"posts","id":"futureofyou_435960","meta":{"index":"posts_1591205157","site":"futureofyou","id":"435960","score":null,"sort":[1509995619000]},"guestAuthors":[],"slug":"advanced-prenatal-testing-will-mean-more-gut-wrenching-decisions-about-abortion","title":"Advanced Prenatal Testing Means More Gut-Wrenching Decisions Over Abortion","publishDate":1509995619,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{"site":"futureofyou"},"content":"\u003cp>\u003cem>Excerpts from \"The Other Scarlet 'A': Abortion's Relationship to Genetic Testing\" from THE GENE MACHINE by Bonnie Rochman. Copyright © 2017 by Bonnie Rochman. Used by permission of \u003ca href=\"https://us.macmillan.com/fsg\" target=\"_blank\" rel=\"noopener\">Farrar, Straus and Giroux\u003c/a>.\u003c/em>\u003c/p>\n\u003cp>When the second purple line appeared on the white plastic wand on a March morning in 2002, I knew next to nothing about pregnancy and even less about raising a child. It was years before I’d go on to cover parenting and pediatrics, and write about sequencing children’s genomes. Yet from the first days of that pregnancy, I was already enmeshed in the most cutting-edge technologies of the time, thanks to my friend Tali, whose son was due a week after mine.\u003c/p>\n\u003caside class=\"pullquote alignright\">How people feel about disability and how that impacts their decisions around abortion are the real topics in any discussion about advanced prenatal testing.\u003c/aside>\n\u003cp>Tali had recently moved to my home state of North Carolina from Israel, where nuchal translucency testing was standard. I had no idea what it was, but I figured it was important, judging by her level of outrage that this test to gauge Down syndrome risk — combination of an ultrasound to measure the collection of fluid under the skin on the back of a fetus’s neck, and a blood draw — wasn’t commonly available in the United States. Within days, she told me that she’d found a doctor who was getting certified to perform the testing. He needed subjects. Tali and I volunteered.\u003c/p>\n\u003cp>I had signed up blithely, without seriously considering what I’d do if the test result came back positive. I expected good news — and, fortunately, I got it. Now, more than a decade later, nuchal translucency is old hat. Other, more sophisticated tests have begun to usurp what was lauded as the latest in prenatal technology in the early aughts.\u003c/p>\n\u003cp>Nuchal translucency offered both Tali and me reassurance. But the various permutations of prenatal screening and testing do not always provide comfort. I am witness to that in the heart of midtown Manhattan, not far from Radio City Music Hall, in a clinic where a woman and her husband have just made a life-altering decision. The woman is 40 years old, with high cheekbones and skin the color of toasted almonds. She is 12-and-a-half weeks pregnant with one baby, but minutes earlier, before she sat down with me in an empty exam room, she was pregnant with two.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>[contextly_sidebar id=\"i4qdnvXQQLlENO4hP9XlMVjlFUStRjgc\"]Her journey to motherhood had not been easy. The twins had been conceived via in vitro fertilization after the woman and her partner had spent more than a year trying to get pregnant the old-fashioned way. A week before, she had had a microarray analysis that peered deeply into the genetic makeup of her twins.\u003c/p>\n\u003cp>Microarray analyzes fetal cells for countless less apparent disorders that occur when a tiny snippet of DNA has been added somewhere it’s not supposed to be or deleted entirely, revealing genetic hiccups that previously could not be detected prenatally. Some of these changes are meaningless; others may be associated with autism or rare disorders such as DiGeorge syndrome, which is characterized by heart problems and a roughly 25 percent risk of developing schizophrenia.\u003c/p>\n\u003cp>As the woman explained, “We made use of technology throughout this process, so it would be a shame not to take advantage of this [test]. I wanted to make sure that, given my age, there was nothing wrong.”\u003c/p>\n\u003cp>She knew that the microarray would reveal all sorts of genetic blips, DNA duplications and deletions too tiny to be seen under a microscope, some of which are associated with worrisome conditions and others of which aren’t understood. The test would also detect major chromosomal problems, of which Down syndrome is the most common.\u003c/p>\n\u003caside class=\"pullquote alignright\">'Just because a patient can know something, must she? What is one of the most joyous times of life has turned into something ominous and fraught, loaded with the potential to go wrong.'\u003c/aside>\n\u003cp>Even at age 40, just 1 of 100 pregnancies results in Down syndrome. And yet the couple beat those odds: one of the twins was confirmed to have the extra 21st chromosome that causes the condition.\u003c/p>\n\u003cp>“You don’t think it’s going to happen to you and then here it is. I still can’t get over the fact. Today we reduced the baby with Down syndrome,” the woman tells me, using a common euphemism for terminating one or more fetuses in cases where a woman is carrying more than she intends to deliver. Many doctors call this “fetal reduction.” She reflects on her decision, made possible by these new tests, as she lowers herself onto an exam table to rest. “I look at this as a sign from God. My mother believes in karma. I think this baby was only meant to be for twelve weeks and his suffering was shortened,” she says. She raises herself up on her elbows and looks at her husband. “Then I feel like, ‘Oh my god, I just killed a baby.’ ”\u003c/p>\n\u003cp>Considering that women have been getting pregnant for a very long time, prenatal diagnosis — the ability to peer inside the womb and emerge with a snapshot of fetal health — is a fairly recent development, a convergence of medical technologies such as amniocentesis and ultrasound with emerging insights about genes and chromosomes. But it’s the legalization of abortion in 1973 that really served as a catalyst for change. After all, without the ability to choose whether or not to continue a pregnancy, knowledge gleaned from prenatal diagnosis would have remained largely theoretical. With the decriminalization of abortion, what to do became a choice.\u003c/p>\n\u003cp>While there are women who’d never opt for an abortion, it’s disingenuous to ignore the fact that terminating a pregnancy is one possible outcome of earlier, more sophisticated genetic tests. The issue of how people feel about disability and, in turn, how that impacts their decisions regarding abortion is an essential aspect of any discussion about advances in prenatal testing.\u003c/p>\n\u003caside class=\"pullquote alignright\">'I don't understand why even women in their twenties aren't undergoing this testing. Knowledge is power.'\u003c/aside>\n\u003cp>Yet abortion remains the elephant in the room when it comes to prenatal testing. When I discuss my work with colleagues and friends interested in the subject, some say, “ You’re not going to mention abortion, are you? My gut tells me that I think you’re walking into a minefield if that becomes a major part of the book.” Others say, “Abortion should definitely be a chapter. How could it not be?”\u003c/p>\n\u003cp>Much of the prenatal testing conversation centers on Down syndrome because the condition is so well- known, unlike others that affect far fewer people. One of every 792 babies born in the United States has Down syndrome. Compared to many other chromosomal conditions, however, Down syndrome is considered a relatively mild genetic complex. Chromosome 21 is the smallest chromosome, so the extra genetic material that accompanies a third copy is not as massive or overwhelming as it would be had it occurred on another, larger chromosome. The genetic disorder that results from a triplication of any chromosome is called a trisomy. A trisomy 22 baby, for example, probably would not make it to birth.\u003c/p>\n\u003cp>Starting in the 1970s, various epidemiologists began making the case that standardizing testing for Down syndrome was a public health priority. Since then, screening for Down syndrome has become broadly accepted by the medical community and, in turn, by many pregnant women and their partners. In 2007, the American College of Obstetrics and Gynecology expanded its prenatal screening recommendations to offer all women, regardless of age, the option of screening and diagnosis for genetic conditions, including Down syndrome.\u003c/p>\n\u003cp>One of the consequences is clear. In 2015, Brian Skotko, who co-directs the Down Syndrome Program at Massachusetts General Hospital, published a comprehensive look at Down syndrome live-birth rates in the United States. Between 2006 and 2010, he and his colleagues calculated that 30 percent fewer babies with Down syndrome were born than were expected, due to elective terminations.\u003c/p>\n\u003cp>Decisions about whether to have a baby with Down syndrome tend to vary geographically and by level of education. In the 2015 study, abortions for reasons of Down syndrome were highest in the Northeast and Hawaii and lowest in the South. Asians were the most likely to terminate due to Down syndrome, while Hispanics and American Indians were the least likely.\u003c/p>\n\u003cfigure id=\"attachment_370960\" class=\"wp-caption aligncenter\" style=\"max-width: 507px\">\u003ca href=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/04/Down-syndrome.jpg\">\u003cimg class=\"size-full wp-image-370960\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/04/Down-syndrome.jpg\" alt=\"\" width=\"507\" height=\"337\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/04/Down-syndrome.jpg 507w, https://ww2.kqed.org/app/uploads/sites/13/2017/04/Down-syndrome-160x106.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2017/04/Down-syndrome-240x160.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2017/04/Down-syndrome-375x249.jpg 375w\" sizes=\"(max-width: 507px) 100vw, 507px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">A baby girl with Down Syndrome and her mother. \u003ccite>( JGI/Tom Grill/Getty Images)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cstrong>The Rise of Noninvasive Prenatal Screening \u003c/strong>\u003c/p>\n\u003cp>Various forms of prenatal testing have been around for decades, but when noninvasive prenatal screening (NIPS) debuted in 2011, its greater accuracy combined with its ease of use contributed to its rapid uptake. In a few short years, NIPS, also called cell-free DNA screening, has become pervasive in the prenatal-testing market. Rather than face off with a long needle or catheter guided through the cervix or abdomen late in the first trimester, or a long needle in the abdomen in the second trimester, a quick venipuncture can collect enough blood midway through the first trimester to gauge whether the fetus’s chromosomes are intact, with high accuracy and no in utero assault. Within a few weeks of a woman learning she’s pregnant, her blood contains fragments of fetal DNA (NIPS actually detects DNA from the placenta, considered a proxy for fetal DNA, that is free-floating in the mom’s bloodstream). The amount of cell- free DNA from the fetus and mother can then be analyzed to predict Down syndrome (and an increasing number of other chromosomal conditions) with up to 99 percent accuracy — though the concept of accuracy itself is nuanced and complex and fluctuates depending on the age of the mother. NIPS, being a blood test, also sidesteps the very small but still scary risk of miscarriage that accompanies CVS (short for \u003ca href=\"https://www.mayoclinic.org/tests-procedures/chorionic-villus-sampling/basics/definition/prc-20013566\" target=\"_blank\" rel=\"noopener\">chorionic villus sampling\u003c/a>) or amnio.\u003c/p>\n\u003caside class=\"pullquote alignright\">The doctor said: 'I get people coming in here who ... want to know this is 100 percent fine. I can't give you 100 percent. I can give you 80 percent. And I said, \"I'm going to take those odds.\"\u003c/aside>\n\u003cp>Initially reserved for women over 35, NIPS has now spread to younger women as well, and has spawned a $500 million industry expected to balloon to $2 billion by 2020. But who gets the testing ranges widely, depending upon who goes to the doctor in the first place. Lower-income women, due to lack of access, don’t seek out prenatal care nearly as regularly as more well-to-do mothers. If they do, they’re often too far along in their pregnancies to get screened. Due to geographic discrepancies in Medicaid coverage, NIPS or other tests may not be covered. ...\u003c/p>\n\u003cp>Despite its high degree of accuracy, NIPS is not perfect. Nor does it equate with a diagnosis. NIPS is a screening test; it can be complicated by a lower-than-expected fraction of fetal DNA and even by an underlying maternal cancer diagnosis. Only CVS or amnio can offer confirmation. But the message is not always getting across to women — or their doctors. Cases have been reported of women coming close to terminating pregnancies they believed were affected based on NIPS results — only to learn that they were not. Experts blame the companies that market the tests for robust advertising that they say misleads patients — and some physicians — into believing that the results are equivalent to a diagnosis. To address misunderstanding, the American Congress of Obstetricians and Gynecologists issued a statement in 2015 stressing that any positive results need to be confirmed via other tests such as amniocentesis. In other words, ACOG emphasizes, a decision to have an abortion should not be based solely on the results of NIPS.\u003c/p>\n\u003cp>Yet there has been little public conversation about widespread prenatal screening and the “consequences of the transformation of every fetus — and not only the precious fetus produced thanks to complex technological interventions — into an ‘at risk’ entity, extensively tested, measured and evaluated by health professionals,” wrote the science historian Ilana Löwy in a paper about prenatal diagnosis.\u003c/p>\n\u003cp>In an op-ed in The New York Times, “\u003ca href=\"https://opinionator.blogs.nytimes.com/2014/06/04/the-t-m-i-pregnancy/?_r=0\" target=\"_blank\" rel=\"noopener\">The T.M.I. Pregnancy,\u003c/a>” Patricia Volk lamented that all the testing surrounding her daughter-in-law’s supposedly “normal” pregnancy had left them both feeling “guardedly happy.” She recounted a series of scary ultrasound findings that turned out to be nothing, and mused: “Prenatal science has helped a lot [of] people and people-to-be. But just because a patient can know something, must she? Odds are in this baby’s favor, yet every sonogram adds something scary to the pot. What is one of the most joyous times of life has turned into something ominous and fraught, loaded with the potential to go wrong.”\u003c/p>\n\u003cp>Yet one person’s anxiety is another’s sigh of relief. The debate over what testing and how much hinges on so many factors. In fact, two letters to the editor in response to “The T.M.I. Pregnancy” highlight why this push-and-pull is one of the great medical and social conundrums of our time. In one, Alastair Pullen describes his experience declining all testing during his wife’s first pregnancy “for all of the reasons this article mentions.” Halfway through the pregnancy, he and his wife agreed to an ultrasound and discovered their daughter had a fatal condition and would not survive long after birth. “Faced with a horrible decision,” Pullen writes, “we decided to induce preterm labor. Becket was stillborn. The only thing worse would have been if we had had no knowledge of her condition.” Pullen had first decided not to test but ended up grateful he changed his mind. He and his wife welcomed testing in later pregnancies; they now have three healthy children, and, he says, “the barrage of testing affirmed our excitement.”\u003c/p>\n\u003cp>Ingrid Chafee, on the other hand, gave birth when no tests were available. She was shocked when she delivered her firstborn in 1965, only to learn he had hydrocephalus and spina bifida. Surgery repaired much of the damage, but her son — who now holds a doctorate from Oxford — still has physical problems. She concludes: “He has said many times that he is glad that there were no ultrasound tests available at the time of his birth. If there had been, he wouldn’t be here. To know or not to know? It’s up to each to decide.”\u003c/p>\n\u003cp>\u003cstrong>Who Is a Gift and Who a Burden?\u003c/strong>\u003c/p>\n\u003cp>The ethics of abortion are set to become much more complicated as more women have access to powerful genetic tests such as microarray, for these tests can identify genetic flaws that are not readily understood.\u003c/p>\n\u003cp>Microarray had confirmed that the almond skinned woman who had the fetal reduction was carrying one twin with Down syndrome. But in the case of more ambiguous genetic errors in a boy named Ryan Docherty, confirmation was the easy part. It was the interpretation — figuring out the significance of the problems that microarray had detected in utero — that proved difficult.\u003c/p>\n\u003cp>When she was pregnant, Ryan’s mom, Jen Sipress, had a microarray test. You’ll recall that chromosomal microarray analysis can detect deletions and duplications of genetic material — errors that are far smaller than an entire extra chromosome. But just because they’re smaller doesn’t mean they can’t wreak havoc. Some are associated with genetic disorders; many more aren’t associated with anything because they’re so newly discovered or because they don’t appear to be detrimental according to the limited amount of research that exists. Sipress, 42, is a New York City narcotics prosecutor; she thrives on evidence. When her test results came back, the evidence was disconcerting: Ryan, still in utero, had not one but two findings — “variants of uncertain significance” — inherited from his mother and his father. Docherty had passed down a duplication involving six genes, while Sipress had contributed a deletion on chromosome 15 involving four genes. In general, deletions are considered more worrisome than duplications; our bodies can often deal with some extra genetic material, but it’s not as easy to compensate for DNA gone AWOL. To make matters worse, one of the four missing genes had been associated in the medical literature with intellectual and developmental delay. Here’s where things got really confusing: Sipress was missing that same gene and she didn’t appear to be affected at all. She worked hard as the family’s primary income earner, putting drug dealers behind bars. She hadn’t even known she was missing any genes until the microarray results came back. But genes—or their absence — can affect people differently; it’s a phenomenon called “variable expressivity.”\u003c/p>\n\u003cp>Before the amniocentesis to collect fetal cells for the microarray analysis, Sipress and Docherty had decided that were they to learn that their unborn child wouldn’t be able to live independently as an adult, they would end the pregnancy. When they got the results, they leaned toward abortion. After talking to their doctor, Ron Wapner, author of a \u003cem>New England Journal of Medicine\u003c/em> study about microarray’s effectiveness, they changed their minds. As Sipress recalls, Wapner said, “‘I get people coming in here who . . . want to know this is 100 percent fine.’ And he said, ‘I can’t give you 100 percent. I can give you 80 percent.’ And I said, ‘I’m going to take those odds.’ ”\u003c/p>\n\u003cp>Emotionally, it was a terrible time for Sipress and Docherty. Ryan was their first child, and he had been conceived after two rounds of IVF. But Sipress doesn’t regret finding out. “I don’t understand why even women in their 20s aren’t undergoing this testing,” she says. “Knowledge is power. Doesn’t everyone realize that?”\u003c/p>\n\u003cp>It’s certainly made for some awkward conversations with her husband’s family in Scotland, who know about the missing genes. “They ask if there is something wrong with the kid, and I say, ‘Technically, yes, but he’s not exhibiting any symptoms,’ ” says Sipress. To that end, Docherty, who stays home with Ryan, is a vigilant observer. “Are we still worried?” says Docherty. “Absolutely.” It’s easy to attribute every behavioral challenge — Ryan’s not a good sleeper, but neither are lots of babies — to the missing genes. Anticipating this, Wapner has cautioned them against engaging in this sort of genetic determinism. “He said, ‘Go about your business. If you feel something is really wrong, then you act.’ To be honest,” says Docherty, “Ryan doesn’t have a problem, as far as I can see.”\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>To what end are we willing to go to detect disability? Once we find it, is there a dividing line between “good,” or tolerable, disabilities and “bad,” or intolerable, limitations? How do we decide which ones may warrant abortion and which are acceptable? What feels overwhelming to one person— the birth of a child with a genetic disorder— may feel like God’s gift to another. Who are we to judge what — who, more accurately—is a gift and who is a burden?\u003c/p>\n\n","blocks":[],"excerpt":"Advanced prenatal genetic testing transforms every fetus into an 'at risk' entity. And we should be talking about that, says author Bonnie Rochman in 'The Gene Machine.'","status":"publish","parent":0,"modified":1514584359,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":36,"wordCount":3388},"headData":{"title":"Advanced Prenatal Testing Means More Gut-Wrenching Decisions Over Abortion | KQED","description":"Advanced prenatal genetic testing transforms every fetus into an 'at risk' entity. And we should be talking about that, says author Bonnie Rochman in 'The Gene Machine.'","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"Advanced Prenatal Testing Means More Gut-Wrenching Decisions Over Abortion","datePublished":"2017-11-06T19:13:39.000Z","dateModified":"2017-12-29T21:52:39.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"435960 https://ww2.kqed.org/futureofyou/?p=435960","disqusUrl":"https://ww2.kqed.org/futureofyou/2017/11/06/advanced-prenatal-testing-will-mean-more-gut-wrenching-decisions-about-abortion/","disqusTitle":"Advanced Prenatal Testing Means More Gut-Wrenching Decisions Over Abortion","nprByline":"Bonnie Rochman","path":"/futureofyou/435960/advanced-prenatal-testing-will-mean-more-gut-wrenching-decisions-about-abortion","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003cem>Excerpts from \"The Other Scarlet 'A': Abortion's Relationship to Genetic Testing\" from THE GENE MACHINE by Bonnie Rochman. Copyright © 2017 by Bonnie Rochman. Used by permission of \u003ca href=\"https://us.macmillan.com/fsg\" target=\"_blank\" rel=\"noopener\">Farrar, Straus and Giroux\u003c/a>.\u003c/em>\u003c/p>\n\u003cp>When the second purple line appeared on the white plastic wand on a March morning in 2002, I knew next to nothing about pregnancy and even less about raising a child. It was years before I’d go on to cover parenting and pediatrics, and write about sequencing children’s genomes. Yet from the first days of that pregnancy, I was already enmeshed in the most cutting-edge technologies of the time, thanks to my friend Tali, whose son was due a week after mine.\u003c/p>\n\u003caside class=\"pullquote alignright\">How people feel about disability and how that impacts their decisions around abortion are the real topics in any discussion about advanced prenatal testing.\u003c/aside>\n\u003cp>Tali had recently moved to my home state of North Carolina from Israel, where nuchal translucency testing was standard. I had no idea what it was, but I figured it was important, judging by her level of outrage that this test to gauge Down syndrome risk — combination of an ultrasound to measure the collection of fluid under the skin on the back of a fetus’s neck, and a blood draw — wasn’t commonly available in the United States. Within days, she told me that she’d found a doctor who was getting certified to perform the testing. He needed subjects. Tali and I volunteered.\u003c/p>\n\u003cp>I had signed up blithely, without seriously considering what I’d do if the test result came back positive. I expected good news — and, fortunately, I got it. Now, more than a decade later, nuchal translucency is old hat. Other, more sophisticated tests have begun to usurp what was lauded as the latest in prenatal technology in the early aughts.\u003c/p>\n\u003cp>Nuchal translucency offered both Tali and me reassurance. But the various permutations of prenatal screening and testing do not always provide comfort. I am witness to that in the heart of midtown Manhattan, not far from Radio City Music Hall, in a clinic where a woman and her husband have just made a life-altering decision. The woman is 40 years old, with high cheekbones and skin the color of toasted almonds. She is 12-and-a-half weeks pregnant with one baby, but minutes earlier, before she sat down with me in an empty exam room, she was pregnant with two.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003c/p>\u003cp>\u003c/p>\u003cp>Her journey to motherhood had not been easy. The twins had been conceived via in vitro fertilization after the woman and her partner had spent more than a year trying to get pregnant the old-fashioned way. A week before, she had had a microarray analysis that peered deeply into the genetic makeup of her twins.\u003c/p>\n\u003cp>Microarray analyzes fetal cells for countless less apparent disorders that occur when a tiny snippet of DNA has been added somewhere it’s not supposed to be or deleted entirely, revealing genetic hiccups that previously could not be detected prenatally. Some of these changes are meaningless; others may be associated with autism or rare disorders such as DiGeorge syndrome, which is characterized by heart problems and a roughly 25 percent risk of developing schizophrenia.\u003c/p>\n\u003cp>As the woman explained, “We made use of technology throughout this process, so it would be a shame not to take advantage of this [test]. I wanted to make sure that, given my age, there was nothing wrong.”\u003c/p>\n\u003cp>She knew that the microarray would reveal all sorts of genetic blips, DNA duplications and deletions too tiny to be seen under a microscope, some of which are associated with worrisome conditions and others of which aren’t understood. The test would also detect major chromosomal problems, of which Down syndrome is the most common.\u003c/p>\n\u003caside class=\"pullquote alignright\">'Just because a patient can know something, must she? What is one of the most joyous times of life has turned into something ominous and fraught, loaded with the potential to go wrong.'\u003c/aside>\n\u003cp>Even at age 40, just 1 of 100 pregnancies results in Down syndrome. And yet the couple beat those odds: one of the twins was confirmed to have the extra 21st chromosome that causes the condition.\u003c/p>\n\u003cp>“You don’t think it’s going to happen to you and then here it is. I still can’t get over the fact. Today we reduced the baby with Down syndrome,” the woman tells me, using a common euphemism for terminating one or more fetuses in cases where a woman is carrying more than she intends to deliver. Many doctors call this “fetal reduction.” She reflects on her decision, made possible by these new tests, as she lowers herself onto an exam table to rest. “I look at this as a sign from God. My mother believes in karma. I think this baby was only meant to be for twelve weeks and his suffering was shortened,” she says. She raises herself up on her elbows and looks at her husband. “Then I feel like, ‘Oh my god, I just killed a baby.’ ”\u003c/p>\n\u003cp>Considering that women have been getting pregnant for a very long time, prenatal diagnosis — the ability to peer inside the womb and emerge with a snapshot of fetal health — is a fairly recent development, a convergence of medical technologies such as amniocentesis and ultrasound with emerging insights about genes and chromosomes. But it’s the legalization of abortion in 1973 that really served as a catalyst for change. After all, without the ability to choose whether or not to continue a pregnancy, knowledge gleaned from prenatal diagnosis would have remained largely theoretical. With the decriminalization of abortion, what to do became a choice.\u003c/p>\n\u003cp>While there are women who’d never opt for an abortion, it’s disingenuous to ignore the fact that terminating a pregnancy is one possible outcome of earlier, more sophisticated genetic tests. The issue of how people feel about disability and, in turn, how that impacts their decisions regarding abortion is an essential aspect of any discussion about advances in prenatal testing.\u003c/p>\n\u003caside class=\"pullquote alignright\">'I don't understand why even women in their twenties aren't undergoing this testing. Knowledge is power.'\u003c/aside>\n\u003cp>Yet abortion remains the elephant in the room when it comes to prenatal testing. When I discuss my work with colleagues and friends interested in the subject, some say, “ You’re not going to mention abortion, are you? My gut tells me that I think you’re walking into a minefield if that becomes a major part of the book.” Others say, “Abortion should definitely be a chapter. How could it not be?”\u003c/p>\n\u003cp>Much of the prenatal testing conversation centers on Down syndrome because the condition is so well- known, unlike others that affect far fewer people. One of every 792 babies born in the United States has Down syndrome. Compared to many other chromosomal conditions, however, Down syndrome is considered a relatively mild genetic complex. Chromosome 21 is the smallest chromosome, so the extra genetic material that accompanies a third copy is not as massive or overwhelming as it would be had it occurred on another, larger chromosome. The genetic disorder that results from a triplication of any chromosome is called a trisomy. A trisomy 22 baby, for example, probably would not make it to birth.\u003c/p>\n\u003cp>Starting in the 1970s, various epidemiologists began making the case that standardizing testing for Down syndrome was a public health priority. Since then, screening for Down syndrome has become broadly accepted by the medical community and, in turn, by many pregnant women and their partners. In 2007, the American College of Obstetrics and Gynecology expanded its prenatal screening recommendations to offer all women, regardless of age, the option of screening and diagnosis for genetic conditions, including Down syndrome.\u003c/p>\n\u003cp>One of the consequences is clear. In 2015, Brian Skotko, who co-directs the Down Syndrome Program at Massachusetts General Hospital, published a comprehensive look at Down syndrome live-birth rates in the United States. Between 2006 and 2010, he and his colleagues calculated that 30 percent fewer babies with Down syndrome were born than were expected, due to elective terminations.\u003c/p>\n\u003cp>Decisions about whether to have a baby with Down syndrome tend to vary geographically and by level of education. In the 2015 study, abortions for reasons of Down syndrome were highest in the Northeast and Hawaii and lowest in the South. Asians were the most likely to terminate due to Down syndrome, while Hispanics and American Indians were the least likely.\u003c/p>\n\u003cfigure id=\"attachment_370960\" class=\"wp-caption aligncenter\" style=\"max-width: 507px\">\u003ca href=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/04/Down-syndrome.jpg\">\u003cimg class=\"size-full wp-image-370960\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/04/Down-syndrome.jpg\" alt=\"\" width=\"507\" height=\"337\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/04/Down-syndrome.jpg 507w, https://ww2.kqed.org/app/uploads/sites/13/2017/04/Down-syndrome-160x106.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2017/04/Down-syndrome-240x160.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2017/04/Down-syndrome-375x249.jpg 375w\" sizes=\"(max-width: 507px) 100vw, 507px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">A baby girl with Down Syndrome and her mother. \u003ccite>( JGI/Tom Grill/Getty Images)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cstrong>The Rise of Noninvasive Prenatal Screening \u003c/strong>\u003c/p>\n\u003cp>Various forms of prenatal testing have been around for decades, but when noninvasive prenatal screening (NIPS) debuted in 2011, its greater accuracy combined with its ease of use contributed to its rapid uptake. In a few short years, NIPS, also called cell-free DNA screening, has become pervasive in the prenatal-testing market. Rather than face off with a long needle or catheter guided through the cervix or abdomen late in the first trimester, or a long needle in the abdomen in the second trimester, a quick venipuncture can collect enough blood midway through the first trimester to gauge whether the fetus’s chromosomes are intact, with high accuracy and no in utero assault. Within a few weeks of a woman learning she’s pregnant, her blood contains fragments of fetal DNA (NIPS actually detects DNA from the placenta, considered a proxy for fetal DNA, that is free-floating in the mom’s bloodstream). The amount of cell- free DNA from the fetus and mother can then be analyzed to predict Down syndrome (and an increasing number of other chromosomal conditions) with up to 99 percent accuracy — though the concept of accuracy itself is nuanced and complex and fluctuates depending on the age of the mother. NIPS, being a blood test, also sidesteps the very small but still scary risk of miscarriage that accompanies CVS (short for \u003ca href=\"https://www.mayoclinic.org/tests-procedures/chorionic-villus-sampling/basics/definition/prc-20013566\" target=\"_blank\" rel=\"noopener\">chorionic villus sampling\u003c/a>) or amnio.\u003c/p>\n\u003caside class=\"pullquote alignright\">The doctor said: 'I get people coming in here who ... want to know this is 100 percent fine. I can't give you 100 percent. I can give you 80 percent. And I said, \"I'm going to take those odds.\"\u003c/aside>\n\u003cp>Initially reserved for women over 35, NIPS has now spread to younger women as well, and has spawned a $500 million industry expected to balloon to $2 billion by 2020. But who gets the testing ranges widely, depending upon who goes to the doctor in the first place. Lower-income women, due to lack of access, don’t seek out prenatal care nearly as regularly as more well-to-do mothers. If they do, they’re often too far along in their pregnancies to get screened. Due to geographic discrepancies in Medicaid coverage, NIPS or other tests may not be covered. ...\u003c/p>\n\u003cp>Despite its high degree of accuracy, NIPS is not perfect. Nor does it equate with a diagnosis. NIPS is a screening test; it can be complicated by a lower-than-expected fraction of fetal DNA and even by an underlying maternal cancer diagnosis. Only CVS or amnio can offer confirmation. But the message is not always getting across to women — or their doctors. Cases have been reported of women coming close to terminating pregnancies they believed were affected based on NIPS results — only to learn that they were not. Experts blame the companies that market the tests for robust advertising that they say misleads patients — and some physicians — into believing that the results are equivalent to a diagnosis. To address misunderstanding, the American Congress of Obstetricians and Gynecologists issued a statement in 2015 stressing that any positive results need to be confirmed via other tests such as amniocentesis. In other words, ACOG emphasizes, a decision to have an abortion should not be based solely on the results of NIPS.\u003c/p>\n\u003cp>Yet there has been little public conversation about widespread prenatal screening and the “consequences of the transformation of every fetus — and not only the precious fetus produced thanks to complex technological interventions — into an ‘at risk’ entity, extensively tested, measured and evaluated by health professionals,” wrote the science historian Ilana Löwy in a paper about prenatal diagnosis.\u003c/p>\n\u003cp>In an op-ed in The New York Times, “\u003ca href=\"https://opinionator.blogs.nytimes.com/2014/06/04/the-t-m-i-pregnancy/?_r=0\" target=\"_blank\" rel=\"noopener\">The T.M.I. Pregnancy,\u003c/a>” Patricia Volk lamented that all the testing surrounding her daughter-in-law’s supposedly “normal” pregnancy had left them both feeling “guardedly happy.” She recounted a series of scary ultrasound findings that turned out to be nothing, and mused: “Prenatal science has helped a lot [of] people and people-to-be. But just because a patient can know something, must she? Odds are in this baby’s favor, yet every sonogram adds something scary to the pot. What is one of the most joyous times of life has turned into something ominous and fraught, loaded with the potential to go wrong.”\u003c/p>\n\u003cp>Yet one person’s anxiety is another’s sigh of relief. The debate over what testing and how much hinges on so many factors. In fact, two letters to the editor in response to “The T.M.I. Pregnancy” highlight why this push-and-pull is one of the great medical and social conundrums of our time. In one, Alastair Pullen describes his experience declining all testing during his wife’s first pregnancy “for all of the reasons this article mentions.” Halfway through the pregnancy, he and his wife agreed to an ultrasound and discovered their daughter had a fatal condition and would not survive long after birth. “Faced with a horrible decision,” Pullen writes, “we decided to induce preterm labor. Becket was stillborn. The only thing worse would have been if we had had no knowledge of her condition.” Pullen had first decided not to test but ended up grateful he changed his mind. He and his wife welcomed testing in later pregnancies; they now have three healthy children, and, he says, “the barrage of testing affirmed our excitement.”\u003c/p>\n\u003cp>Ingrid Chafee, on the other hand, gave birth when no tests were available. She was shocked when she delivered her firstborn in 1965, only to learn he had hydrocephalus and spina bifida. Surgery repaired much of the damage, but her son — who now holds a doctorate from Oxford — still has physical problems. She concludes: “He has said many times that he is glad that there were no ultrasound tests available at the time of his birth. If there had been, he wouldn’t be here. To know or not to know? It’s up to each to decide.”\u003c/p>\n\u003cp>\u003cstrong>Who Is a Gift and Who a Burden?\u003c/strong>\u003c/p>\n\u003cp>The ethics of abortion are set to become much more complicated as more women have access to powerful genetic tests such as microarray, for these tests can identify genetic flaws that are not readily understood.\u003c/p>\n\u003cp>Microarray had confirmed that the almond skinned woman who had the fetal reduction was carrying one twin with Down syndrome. But in the case of more ambiguous genetic errors in a boy named Ryan Docherty, confirmation was the easy part. It was the interpretation — figuring out the significance of the problems that microarray had detected in utero — that proved difficult.\u003c/p>\n\u003cp>When she was pregnant, Ryan’s mom, Jen Sipress, had a microarray test. You’ll recall that chromosomal microarray analysis can detect deletions and duplications of genetic material — errors that are far smaller than an entire extra chromosome. But just because they’re smaller doesn’t mean they can’t wreak havoc. Some are associated with genetic disorders; many more aren’t associated with anything because they’re so newly discovered or because they don’t appear to be detrimental according to the limited amount of research that exists. Sipress, 42, is a New York City narcotics prosecutor; she thrives on evidence. When her test results came back, the evidence was disconcerting: Ryan, still in utero, had not one but two findings — “variants of uncertain significance” — inherited from his mother and his father. Docherty had passed down a duplication involving six genes, while Sipress had contributed a deletion on chromosome 15 involving four genes. In general, deletions are considered more worrisome than duplications; our bodies can often deal with some extra genetic material, but it’s not as easy to compensate for DNA gone AWOL. To make matters worse, one of the four missing genes had been associated in the medical literature with intellectual and developmental delay. Here’s where things got really confusing: Sipress was missing that same gene and she didn’t appear to be affected at all. She worked hard as the family’s primary income earner, putting drug dealers behind bars. She hadn’t even known she was missing any genes until the microarray results came back. But genes—or their absence — can affect people differently; it’s a phenomenon called “variable expressivity.”\u003c/p>\n\u003cp>Before the amniocentesis to collect fetal cells for the microarray analysis, Sipress and Docherty had decided that were they to learn that their unborn child wouldn’t be able to live independently as an adult, they would end the pregnancy. When they got the results, they leaned toward abortion. After talking to their doctor, Ron Wapner, author of a \u003cem>New England Journal of Medicine\u003c/em> study about microarray’s effectiveness, they changed their minds. As Sipress recalls, Wapner said, “‘I get people coming in here who . . . want to know this is 100 percent fine.’ And he said, ‘I can’t give you 100 percent. I can give you 80 percent.’ And I said, ‘I’m going to take those odds.’ ”\u003c/p>\n\u003cp>Emotionally, it was a terrible time for Sipress and Docherty. Ryan was their first child, and he had been conceived after two rounds of IVF. But Sipress doesn’t regret finding out. “I don’t understand why even women in their 20s aren’t undergoing this testing,” she says. “Knowledge is power. Doesn’t everyone realize that?”\u003c/p>\n\u003cp>It’s certainly made for some awkward conversations with her husband’s family in Scotland, who know about the missing genes. “They ask if there is something wrong with the kid, and I say, ‘Technically, yes, but he’s not exhibiting any symptoms,’ ” says Sipress. To that end, Docherty, who stays home with Ryan, is a vigilant observer. “Are we still worried?” says Docherty. “Absolutely.” It’s easy to attribute every behavioral challenge — Ryan’s not a good sleeper, but neither are lots of babies — to the missing genes. Anticipating this, Wapner has cautioned them against engaging in this sort of genetic determinism. “He said, ‘Go about your business. If you feel something is really wrong, then you act.’ To be honest,” says Docherty, “Ryan doesn’t have a problem, as far as I can see.”\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"floatright"},"numeric":["floatright"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>To what end are we willing to go to detect disability? Once we find it, is there a dividing line between “good,” or tolerable, disabilities and “bad,” or intolerable, limitations? How do we decide which ones may warrant abortion and which are acceptable? What feels overwhelming to one person— the birth of a child with a genetic disorder— may feel like God’s gift to another. Who are we to judge what — who, more accurately—is a gift and who is a burden?\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/435960/advanced-prenatal-testing-will-mean-more-gut-wrenching-decisions-about-abortion","authors":["byline_futureofyou_435960"],"categories":["futureofyou_452","futureofyou_1","futureofyou_1064"],"tags":["futureofyou_342","futureofyou_1439","futureofyou_587","futureofyou_1275","futureofyou_1015","futureofyou_120","futureofyou_80","futureofyou_1386","futureofyou_1388","futureofyou_520","futureofyou_1389"],"featImg":"futureofyou_436849","label":"futureofyou"},"futureofyou_435869":{"type":"posts","id":"futureofyou_435869","meta":{"index":"posts_1591205157","site":"futureofyou","id":"435869","score":null,"sort":[1507651211000]},"guestAuthors":[],"slug":"disabling-genes-in-human-embryos-to-see-what-happens","title":"'Knockout' Studies Now Disabling Genes in Human Embryos","publishDate":1507651211,"format":"aside","headTitle":"KQED Future of You | KQED Science","labelTerm":{"site":"futureofyou"},"content":"\u003cp>\u003cspan style=\"font-weight: 400\">The advantage to editing genes in embryos is that you have a good chance of having the edit adopted by all cells across the organism, something that \u003c/span>\u003cspan style=\"font-weight: 400\">is not true when the editing is done postnatally. \u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">So one way scientists figure out what a gene does is by disabling it in an embryo and seeing what effect its removal has. \u003c/span>\u003c/p>\n\u003cfigure id=\"attachment_435872\" class=\"wp-caption alignright\" style=\"max-width: 439px\">\u003ca href=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/mouse_embryo_M.jpg\">\u003cimg class=\"size-full wp-image-435872\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/mouse_embryo_M.jpg\" alt=\"\" width=\"439\" height=\"601\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/10/mouse_embryo_M.jpg 439w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/mouse_embryo_M-160x219.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/mouse_embryo_M-240x329.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/mouse_embryo_M-375x513.jpg 375w\" sizes=\"(max-width: 439px) 100vw, 439px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">A mouse embryo just eight-and-a-half days old. \u003ccite>(Kenneth Zaret, Fox Chase Cancer Center)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cspan style=\"font-weight: 400\">If you disable or “knock out” a particular gene in the embryos of mice, for instance, and they \u003c/span>\u003cspan style=\"font-weight: 400\">don't develop eyes, odds are that gene was involved in making eyes. (Yes, those experiments \u003c/span>\u003ca href=\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3504437/\" target=\"_blank\" rel=\"noopener\">\u003cspan style=\"font-weight: 400\">have been done\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\">.)\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">Up until recently, mice were the most advanced organisms routinely used in gene knockout studies. Scientists would disable a gene in the rodents, see what happens, and extrapolate those results to people. Knocking out genes in mice has been useful in studying diseases like cancer, obesity and diabetes, says the National Human Genome Research Institute in this \u003c/span>\u003ca href=\"https://www.genome.gov/12514551/knockout-mice-fact-sheet/\" target=\"_blank\" rel=\"noopener\">\u003cspan style=\"font-weight: 400\">fact sheet\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\">.\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">But of course, people aren’t mice. Numerous \u003c/span>\u003ca href=\"https://academic.oup.com/ilarjournal/article/43/2/66/646571/The-Mousetrap-What-We-Can-Learn-When-the-Mouse\" target=\"_blank\" rel=\"noopener\">\u003cspan style=\"font-weight: 400\">examples \u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\">exist of the eradication of \u003c/span>\u003cspan style=\"font-weight: 400\">equivalent genes in both species that result in different effects for each.\u003c/span>\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">A recent \u003c/span>\u003ca href=\"https://www.ncbi.nlm.nih.gov/pubmed/28953884\" target=\"_blank\" rel=\"noopener\">\u003cspan style=\"font-weight: 400\">study\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> on human development published in the journal \u003c/span>\u003ci>\u003cspan style=\"font-weight: 400\">Nature \u003c/span>\u003c/i>\u003cspan style=\"font-weight: 400\">describes an experiment by a team of scientists in London who used the gene-editing tool CRISPR-Cas9 to disable a gene called Oct4 in viable human embryos, an experiment that had previously been performed on mice. \u003c/span>\u003cspan style=\"font-weight: 400\">Oct4 was chosen because it is known to be\u003c/span> \u003cspan style=\"font-weight: 400\">critical to early development.\u003c/span>\u003c/p>\n\u003cp>As expected\u003cb>,\u003c/b>\u003cspan style=\"font-weight: 400\"> losing Oct4 was catastrophic for human embryo development. \u003c/span>What was less expected is that the effects were even more severe than had previously been seen in the embryos of mice.\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">While none of the main types of cells present at the earliest stages of human embryos managed to develop properly, absent Oct4, that was not true of the mice embryos that lacked the gene. In those, the cells that go on to become the placenta survived. The conclusion: Oct 4 is instrumental in development of the placenta in humans, but not in mice.\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">The experiment helped uncover the specific function of the eradicated gene. Knock-out experiments like this one done in human embryos could one day lead to new treatments for infertility that may not have been discovered by relying only on mouse studies. \u003c/span>\u003c/p>\n\u003cp>\u003cb>Disabling a Human Gene\u003c/b>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">The Crick Institute study started out with 54 fertilized human eggs. The researchers microinjected 37 of these embryos with the best gene-editing tool available, Cas9, to target the Oct4 gene for destruction. The researchers also microinjected 17 embryos with untargeted Cas9 as a control, to make sure the effects were not due to the injection procedure itself. \u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">At the earliest stages of development, human embryos with and without a working Oct4 gene behaved similarly. But later on, only 7 of the 37, or 19 percent, of the embryos without the gene went on to develop into a \u003ca href=\"https://www.britannica.com/science/blastocyst\" target=\"_blank\" rel=\"noopener\">blastocyst, \u003c/a>in which cells have grown and divided to number roughly 200. Meanwhile, 8 of the 17, or 47 percent, of the embryos that still contained the gene survived to become blastocysts.\u003c/span>\u003c/p>\n\u003cfigure id=\"attachment_435883\" class=\"wp-caption alignleft\" style=\"max-width: 246px\">\u003ca href=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/Human_blastocyst.jpg\">\u003cimg class=\"wp-image-435883 size-full\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/Human_blastocyst.jpg\" alt=\"\" width=\"246\" height=\"247\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst.jpg 246w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-160x161.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-240x241.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-32x32.jpg 32w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-50x50.jpg 50w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-64x64.jpg 64w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-96x96.jpg 96w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-128x128.jpg 128w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-150x150.jpg 150w\" sizes=\"(max-width: 246px) 100vw, 246px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">A blastocyst is a hollow ball of cells. The outer layer develops into the placenta, and the inner cell mass goes on to become the organism itself. \u003ccite>(National Institutes of Health)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cspan style=\"font-weight: 400\">The other noteworthy result: Of the human embryos that made it to the blastocyst stage, absent Oct4, neither the blastocyst outer layer nor its inner mass developed properly. The outer cells usually go on to become the placenta, while the inner cells develop into a person. In mice, removal of Oct4 did not damage these proto-placenta cells.\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">The conclusion: Oct4 is not critical to the development of the placenta in mice, but it is in humans.\u003c/span>\u003c/p>\n\u003cp>\u003cstrong>Ethics of Human Gene Editing\u003c/strong>\u003c/p>\n\u003cp>Scientists created a stir recently after they successfully \u003ca href=\"https://medicalxpress.com/news/2017-08-early-gene-editing-success-inherited-diseases.html\" target=\"_blank\" rel=\"noopener\">edited DNA in a human embryo\u003c/a>\u003cstrong>\u003ca href=\"https://medicalxpress.com/news/2017-08-early-gene-editing-success-inherited-diseases.html\" target=\"_blank\" rel=\"noopener\"> \u003c/a>\u003c/strong>in order to correct a disease-causing mutation, the first time this has been done. The researchers used embryos that were viable but created expressly for use in the experiment. Most previous work on human embryos had been done on embryos that were incapable of developing into fetuses.\u003c/p>\n\u003cp>In the Oct4 experiment\u003cb>, \u003c/b>the embryos were donated by couples who had conceived via \u003ca href=\"http://www.mayoclinic.org/tests-procedures/in-vitro-fertilization/home/ovc-20206838\">in vitro fertilization\u003c/a> and would have otherwise been discarded, as \u003ca href=\"https://www.nytimes.com/2015/06/18/us/embryos-egg-donors-difficult-issues.html?_r=0\">surplus embryos\u003c/a> are often created in IVF to increase the odds of successfully conceiving a child. G\u003cspan style=\"font-weight: 400\">iven the severity of the loss of the Oct4 gene, they never would have developed into human beings, anyway.\u003c/span>\u003c/p>\n\u003caside class=\"pullquote alignright\">As gene-editing techniques progress, the ethics of editing embryonic DNA will come more into play.\u003c/aside>\n\u003cp>As gene-editing techniques progress, the ethics of editing embryonic DNA will come more into play. \u003cspan style=\"font-weight: 400\">Most scientists argue that at this time, no one should proceed if the embryo will go on to fully develop and be born. This proscription even includes gene editing that might cure a life-threatening genetic disease.\u003c/span> Why? The \u003ca href=\"http://www.cell.com/ajhg/fulltext/S0002-9297(17)30247-1\">arguments \u003c/a>include the continuing, high failure rate when even the best gene-editing techniques are applied, and the dangers of edits occurring at off-target locations in the genome. Both could result in birth defects or unintended consequences for the \u003ca href=\"https://en.wikipedia.org/wiki/Human_germline_engineering\" target=\"_blank\" rel=\"noopener\">human germline\u003c/a> — the genetic material that is heritable from one generation to the next.\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">These views are consistent with a \u003c/span>\u003ca href=\"http://www.sciencemag.org/news/2017/02/us-panel-gives-yellow-light-human-embryo-editing\" target=\"_blank\" rel=\"noopener\">\u003cspan style=\"font-weight: 400\">report \u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\">from an international committee convened by the U.S. National Academy of Sciences and the National Academy of Medicine in Washington, D.C., which argues that the technology for human genome editing is not yet sophisticated enough to allow the editing of genes that can be passed on to offspring. When the technology \u003cem>is\u003c/em> ready, the NAS says, it should only be allowed under very specific circumstances, such as \u003c/span>a case of both parents who have a genetic disease and want to conceive a child\u003cb>.\u003c/b>\u003cspan style=\"font-weight: 400\"> (Here is a \u003c/span>\u003ca href=\"http://www.sciencemag.org/news/2017/02/us-panel-gives-yellow-light-human-embryo-editing\">\u003cspan style=\"font-weight: 400\">pro vs con discussion\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> of human genome editing from \u003cem>Science\u003c/em>.)\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">But the fact is, like it or not, scientists now have the ability to edit the genes in a human fertilized egg. As capabilities increase, so will the moral stakes. The questions could soon be : When is it okay to fix broken genes in order to prevent life-threatening genetic diseases? And when is it not?\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">As CRISPR-Cas9 pioneer Jennifer Doudna has \u003c/span>\u003ca href=\"https://ww2.kqed.org/futureofyou/2017/08/31/as-human-gene-editing-advances-doudna-says-ethical-discussions-cant-wait/\">\u003cspan style=\"font-weight: 400\">counseled\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\">, the ethical debates need to be kept current with the rapidly progressing technology. \u003c/span>\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\u003cem>Dr. Barry Starr is a scientist in the\u003ca href=\"https://med.stanford.edu/genetics.html\"> Department of Genetics\u003c/a> at Stanford University. He runs the\u003ca href=\"https://med.stanford.edu/genetics/tech.html\"> Stanford at The Tech\u003c/a> program and the\u003ca href=\"http://genetics.thetech.org/\"> Understanding Genetics\u003c/a> website with\u003ca href=\"https://www.thetech.org/\"> The Tech Museum of Innovation\u003c/a> in San Jose, California. \u003c/em>\u003c/p>\n\n","blocks":[],"excerpt":"A recently published study used the gene-editing tool CRISPR-Cas9 to disable a gene in human embryos that's critical to human development.","status":"publish","parent":0,"modified":1507739392,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":24,"wordCount":1140},"headData":{"title":"'Knockout' Studies Now Disabling Genes in Human Embryos | KQED","description":"A recently published study used the gene-editing tool CRISPR-Cas9 to disable a gene in human embryos that's critical to human development.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"'Knockout' Studies Now Disabling Genes in Human Embryos","datePublished":"2017-10-10T16:00:11.000Z","dateModified":"2017-10-11T16:29:52.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"435869 https://ww2.kqed.org/futureofyou/?p=435869","disqusUrl":"https://ww2.kqed.org/futureofyou/2017/10/10/disabling-genes-in-human-embryos-to-see-what-happens/","disqusTitle":"'Knockout' Studies Now Disabling Genes in Human Embryos","nprByline":"Barry Starr\u003cbr />Future of You","path":"/futureofyou/435869/disabling-genes-in-human-embryos-to-see-what-happens","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003cspan style=\"font-weight: 400\">The advantage to editing genes in embryos is that you have a good chance of having the edit adopted by all cells across the organism, something that \u003c/span>\u003cspan style=\"font-weight: 400\">is not true when the editing is done postnatally. \u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">So one way scientists figure out what a gene does is by disabling it in an embryo and seeing what effect its removal has. \u003c/span>\u003c/p>\n\u003cfigure id=\"attachment_435872\" class=\"wp-caption alignright\" style=\"max-width: 439px\">\u003ca href=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/mouse_embryo_M.jpg\">\u003cimg class=\"size-full wp-image-435872\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/mouse_embryo_M.jpg\" alt=\"\" width=\"439\" height=\"601\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/10/mouse_embryo_M.jpg 439w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/mouse_embryo_M-160x219.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/mouse_embryo_M-240x329.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/mouse_embryo_M-375x513.jpg 375w\" sizes=\"(max-width: 439px) 100vw, 439px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">A mouse embryo just eight-and-a-half days old. \u003ccite>(Kenneth Zaret, Fox Chase Cancer Center)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cspan style=\"font-weight: 400\">If you disable or “knock out” a particular gene in the embryos of mice, for instance, and they \u003c/span>\u003cspan style=\"font-weight: 400\">don't develop eyes, odds are that gene was involved in making eyes. (Yes, those experiments \u003c/span>\u003ca href=\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3504437/\" target=\"_blank\" rel=\"noopener\">\u003cspan style=\"font-weight: 400\">have been done\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\">.)\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">Up until recently, mice were the most advanced organisms routinely used in gene knockout studies. Scientists would disable a gene in the rodents, see what happens, and extrapolate those results to people. Knocking out genes in mice has been useful in studying diseases like cancer, obesity and diabetes, says the National Human Genome Research Institute in this \u003c/span>\u003ca href=\"https://www.genome.gov/12514551/knockout-mice-fact-sheet/\" target=\"_blank\" rel=\"noopener\">\u003cspan style=\"font-weight: 400\">fact sheet\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\">.\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">But of course, people aren’t mice. Numerous \u003c/span>\u003ca href=\"https://academic.oup.com/ilarjournal/article/43/2/66/646571/The-Mousetrap-What-We-Can-Learn-When-the-Mouse\" target=\"_blank\" rel=\"noopener\">\u003cspan style=\"font-weight: 400\">examples \u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\">exist of the eradication of \u003c/span>\u003cspan style=\"font-weight: 400\">equivalent genes in both species that result in different effects for each.\u003c/span>\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">A recent \u003c/span>\u003ca href=\"https://www.ncbi.nlm.nih.gov/pubmed/28953884\" target=\"_blank\" rel=\"noopener\">\u003cspan style=\"font-weight: 400\">study\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> on human development published in the journal \u003c/span>\u003ci>\u003cspan style=\"font-weight: 400\">Nature \u003c/span>\u003c/i>\u003cspan style=\"font-weight: 400\">describes an experiment by a team of scientists in London who used the gene-editing tool CRISPR-Cas9 to disable a gene called Oct4 in viable human embryos, an experiment that had previously been performed on mice. \u003c/span>\u003cspan style=\"font-weight: 400\">Oct4 was chosen because it is known to be\u003c/span> \u003cspan style=\"font-weight: 400\">critical to early development.\u003c/span>\u003c/p>\n\u003cp>As expected\u003cb>,\u003c/b>\u003cspan style=\"font-weight: 400\"> losing Oct4 was catastrophic for human embryo development. \u003c/span>What was less expected is that the effects were even more severe than had previously been seen in the embryos of mice.\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">While none of the main types of cells present at the earliest stages of human embryos managed to develop properly, absent Oct4, that was not true of the mice embryos that lacked the gene. In those, the cells that go on to become the placenta survived. The conclusion: Oct 4 is instrumental in development of the placenta in humans, but not in mice.\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">The experiment helped uncover the specific function of the eradicated gene. Knock-out experiments like this one done in human embryos could one day lead to new treatments for infertility that may not have been discovered by relying only on mouse studies. \u003c/span>\u003c/p>\n\u003cp>\u003cb>Disabling a Human Gene\u003c/b>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">The Crick Institute study started out with 54 fertilized human eggs. The researchers microinjected 37 of these embryos with the best gene-editing tool available, Cas9, to target the Oct4 gene for destruction. The researchers also microinjected 17 embryos with untargeted Cas9 as a control, to make sure the effects were not due to the injection procedure itself. \u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">At the earliest stages of development, human embryos with and without a working Oct4 gene behaved similarly. But later on, only 7 of the 37, or 19 percent, of the embryos without the gene went on to develop into a \u003ca href=\"https://www.britannica.com/science/blastocyst\" target=\"_blank\" rel=\"noopener\">blastocyst, \u003c/a>in which cells have grown and divided to number roughly 200. Meanwhile, 8 of the 17, or 47 percent, of the embryos that still contained the gene survived to become blastocysts.\u003c/span>\u003c/p>\n\u003cfigure id=\"attachment_435883\" class=\"wp-caption alignleft\" style=\"max-width: 246px\">\u003ca href=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/Human_blastocyst.jpg\">\u003cimg class=\"wp-image-435883 size-full\" src=\"https://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/10/Human_blastocyst.jpg\" alt=\"\" width=\"246\" height=\"247\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst.jpg 246w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-160x161.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-240x241.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-32x32.jpg 32w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-50x50.jpg 50w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-64x64.jpg 64w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-96x96.jpg 96w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-128x128.jpg 128w, https://ww2.kqed.org/app/uploads/sites/13/2017/10/Human_blastocyst-150x150.jpg 150w\" sizes=\"(max-width: 246px) 100vw, 246px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">A blastocyst is a hollow ball of cells. The outer layer develops into the placenta, and the inner cell mass goes on to become the organism itself. \u003ccite>(National Institutes of Health)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cspan style=\"font-weight: 400\">The other noteworthy result: Of the human embryos that made it to the blastocyst stage, absent Oct4, neither the blastocyst outer layer nor its inner mass developed properly. The outer cells usually go on to become the placenta, while the inner cells develop into a person. In mice, removal of Oct4 did not damage these proto-placenta cells.\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">The conclusion: Oct4 is not critical to the development of the placenta in mice, but it is in humans.\u003c/span>\u003c/p>\n\u003cp>\u003cstrong>Ethics of Human Gene Editing\u003c/strong>\u003c/p>\n\u003cp>Scientists created a stir recently after they successfully \u003ca href=\"https://medicalxpress.com/news/2017-08-early-gene-editing-success-inherited-diseases.html\" target=\"_blank\" rel=\"noopener\">edited DNA in a human embryo\u003c/a>\u003cstrong>\u003ca href=\"https://medicalxpress.com/news/2017-08-early-gene-editing-success-inherited-diseases.html\" target=\"_blank\" rel=\"noopener\"> \u003c/a>\u003c/strong>in order to correct a disease-causing mutation, the first time this has been done. The researchers used embryos that were viable but created expressly for use in the experiment. Most previous work on human embryos had been done on embryos that were incapable of developing into fetuses.\u003c/p>\n\u003cp>In the Oct4 experiment\u003cb>, \u003c/b>the embryos were donated by couples who had conceived via \u003ca href=\"http://www.mayoclinic.org/tests-procedures/in-vitro-fertilization/home/ovc-20206838\">in vitro fertilization\u003c/a> and would have otherwise been discarded, as \u003ca href=\"https://www.nytimes.com/2015/06/18/us/embryos-egg-donors-difficult-issues.html?_r=0\">surplus embryos\u003c/a> are often created in IVF to increase the odds of successfully conceiving a child. G\u003cspan style=\"font-weight: 400\">iven the severity of the loss of the Oct4 gene, they never would have developed into human beings, anyway.\u003c/span>\u003c/p>\n\u003caside class=\"pullquote alignright\">As gene-editing techniques progress, the ethics of editing embryonic DNA will come more into play.\u003c/aside>\n\u003cp>As gene-editing techniques progress, the ethics of editing embryonic DNA will come more into play. \u003cspan style=\"font-weight: 400\">Most scientists argue that at this time, no one should proceed if the embryo will go on to fully develop and be born. This proscription even includes gene editing that might cure a life-threatening genetic disease.\u003c/span> Why? The \u003ca href=\"http://www.cell.com/ajhg/fulltext/S0002-9297(17)30247-1\">arguments \u003c/a>include the continuing, high failure rate when even the best gene-editing techniques are applied, and the dangers of edits occurring at off-target locations in the genome. Both could result in birth defects or unintended consequences for the \u003ca href=\"https://en.wikipedia.org/wiki/Human_germline_engineering\" target=\"_blank\" rel=\"noopener\">human germline\u003c/a> — the genetic material that is heritable from one generation to the next.\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">These views are consistent with a \u003c/span>\u003ca href=\"http://www.sciencemag.org/news/2017/02/us-panel-gives-yellow-light-human-embryo-editing\" target=\"_blank\" rel=\"noopener\">\u003cspan style=\"font-weight: 400\">report \u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\">from an international committee convened by the U.S. National Academy of Sciences and the National Academy of Medicine in Washington, D.C., which argues that the technology for human genome editing is not yet sophisticated enough to allow the editing of genes that can be passed on to offspring. When the technology \u003cem>is\u003c/em> ready, the NAS says, it should only be allowed under very specific circumstances, such as \u003c/span>a case of both parents who have a genetic disease and want to conceive a child\u003cb>.\u003c/b>\u003cspan style=\"font-weight: 400\"> (Here is a \u003c/span>\u003ca href=\"http://www.sciencemag.org/news/2017/02/us-panel-gives-yellow-light-human-embryo-editing\">\u003cspan style=\"font-weight: 400\">pro vs con discussion\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\"> of human genome editing from \u003cem>Science\u003c/em>.)\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">But the fact is, like it or not, scientists now have the ability to edit the genes in a human fertilized egg. As capabilities increase, so will the moral stakes. The questions could soon be : When is it okay to fix broken genes in order to prevent life-threatening genetic diseases? And when is it not?\u003c/span>\u003c/p>\n\u003cp>\u003cspan style=\"font-weight: 400\">As CRISPR-Cas9 pioneer Jennifer Doudna has \u003c/span>\u003ca href=\"https://ww2.kqed.org/futureofyou/2017/08/31/as-human-gene-editing-advances-doudna-says-ethical-discussions-cant-wait/\">\u003cspan style=\"font-weight: 400\">counseled\u003c/span>\u003c/a>\u003cspan style=\"font-weight: 400\">, the ethical debates need to be kept current with the rapidly progressing technology. \u003c/span>\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"floatright"},"numeric":["floatright"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003cem>Dr. Barry Starr is a scientist in the\u003ca href=\"https://med.stanford.edu/genetics.html\"> Department of Genetics\u003c/a> at Stanford University. He runs the\u003ca href=\"https://med.stanford.edu/genetics/tech.html\"> Stanford at The Tech\u003c/a> program and the\u003ca href=\"http://genetics.thetech.org/\"> Understanding Genetics\u003c/a> website with\u003ca href=\"https://www.thetech.org/\"> The Tech Museum of Innovation\u003c/a> in San Jose, California. \u003c/em>\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/435869/disabling-genes-in-human-embryos-to-see-what-happens","authors":["byline_futureofyou_435869"],"categories":["futureofyou_1062","futureofyou_1064"],"tags":["futureofyou_94","futureofyou_1275","futureofyou_120","futureofyou_80"],"featImg":"futureofyou_435872","label":"futureofyou"},"futureofyou_435930":{"type":"posts","id":"futureofyou_435930","meta":{"index":"posts_1591205157","site":"futureofyou","id":"435930","score":null,"sort":[1507577758000]},"guestAuthors":[],"slug":"fatal-genetic-disease-treatable-if-caught-early-but-only-handful-of-states-test-for-it","title":"Fatal Genetic Disease Treatable if Caught Early, But Only Handful of States Test for It","publishDate":1507577758,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>SAN DIEGO — Kerri De Nies received the news this spring from her son’s pediatrician: Her chubby-cheeked toddler had a rare brain disorder.\u003c/p>\n\u003cp>She’d never heard of the disease — adrenoleukodystrophy, or ALD — and she soon felt devastated and overwhelmed.\u003c/p>\n\u003caside class=\"pullquote alignright\">'If you pick it up in the early stages … you are at a much better place in terms of treating it effectively.'\u003ccite>Dr. Florian Eichler, Massachusetts General Hospital\u003c/cite>\u003c/aside>\n\u003cp>“I probably read everything you could possibly read online — every single website,” De Nies said as she cradled her son, Gregory Mac Phee. “It’s definitely hard to think about what could potentially happen. You think about the worst-case scenario.”\u003c/p>\n\u003cp>ALD is a \u003ca href=\"http://myelin.org/ald-adrenoleukodystrophy/\">brain disorder\u003c/a> depicted in the 1992 movie “Lorenzo’s Oil,” about a couple whose son became debilitated by the disease. The most serious form of the illness typically strikes boys between ages 4 and 10. Most are diagnosed too late for treatment to be successful, and they often die before their 10th birthday.\u003c/p>\n\u003cp>The more De Nies learned about ALD, the more she realized how fortunate she and Gregory were to have discovered it so early. Her son’s blood was tested when he was about 10 months old.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>California is one of only a handful of states nationwide that screens babies for the gene mutation that causes the disease — a test that dramatically increases Gregory’s chances of survival.\u003c/p>\n\u003caside class=\"pullquote alignright\">'It’s mind-boggling that not every state is testing.'\u003ccite>Kerri De Nies, mother of child with ALD\u003c/cite>\u003c/aside>\n\u003cp>The state began testing newborns for ALD in September 2016, seven months after the federal government added it to the list of recommended screenings. The testing included all babies born after February of that year.\u003c/p>\n\u003cp>“If you pick it up in the early stages … you are at a much better place in terms of treating it effectively,” said Florian Eichler, a neurologist at Massachusetts General Hospital. “That’s where the newborn screening is so important. It really helps you detect these boys at risk.”\u003c/p>\n\u003cp>Eichler said he has seen many families whose boys were diagnosed late. “Listening to families and their ordeal gives you a real sense of what this has done over generations and how much suffering could be prevented through the screening program,” he said.\u003c/p>\n\u003cp>New York was the first to begin screening, in 2013, followed last year by Connecticut and California. A few other states, including Pennsylvania and Minnesota, have since followed.\u003c/p>\n\u003cp>“It’s mind-boggling that not every state is testing,” said De Nies, who teaches children’s ballet in San Diego. “Families will not know until it could be too late for them.”\u003c/p>\n\u003cp>Advocates, including several moms who lost their sons to the disease, were instrumental in getting the \u003ca href=\"https://leginfo.legislature.ca.gov/faces/billNavClient.xhtml?bill_id=201320140AB1559\">screening law\u003c/a> passed in California. Now they are continuing to lobby legislators and pushing health officials to add ALD to screening panels across the nation.\u003c/p>\n\u003cp>Janis Sherwood said that since her son Sawyer’s death from ALD, she has felt an urgency to educate doctors, families and others about the disease. In the past few years, she turned her attention to newborn screening. She believes that as California collects data on how the boys do in treatment, other states will follow. “I think that we are going to see a domino effect as we get more states on board,” she said.\u003c/p>\n\u003cp>About 1 in every 18,000 people have ALD. Of boys with the genetic defect, about 30 to 40 percent will develop the life-threatening form of the disease, which leads to vision, gait and memory problems — and eventually death. It destroys myelin, the protective surface that surrounds some nerve cells.\u003c/p>\n\u003cp>Technicians draw the blood of newborns in the hospital soon after they are born. In California, state law requires that the blood be tested for about 80 diseases, including cystic fibrosis, severe combined immunodeficiency and primary congenital hypothyroidism.\u003c/p>\n\u003cp>Around the nation, testing kits cost a hospital or birthing facility about $120, said Jeff Botkin, who heads the medical ethics division at the University of Utah. “This is an extraordinarily low cost for this number of tests,” he said in an email. The tests are typically covered by insurers or Medicaid.\u003c/p>\n\u003cp>Some conditions on the screening list are relatively common, but ALD is among the rare disorders the tests ferret out that can lead to serious health issues or even death if not detected and treated, Botkin said.\u003c/p>\n\u003cp>There is no answer to the question of how common a condition should be to merit spending health care dollars to test for it, Botkin said. But many of the conditions for which the federal government recommends screening are rare, which means they could affect 1 in 50,000 babies or fewer. “The major question is whether the condition is treatable,” Botkin said.\u003c/p>\n\u003cp>Both boys and girls get tested for ALD because they can both be carriers of the genetic defect and develop the less serious adult form of the disease. Only boys, however, develop the more serious, ultimately fatal, childhood disease.\u003c/p>\n\u003cp>When doctors know that boys have the mutation, they perform brain MRIs beginning when the boys are toddlers. If an MRI starts to show telltale changes in the brain, doctors can intervene to halt the progression of the disease.\u003c/p>\n\u003cp>The common treatment, a bone marrow transplant, is risky and complicated, but it is often successful if the donor is a good match and the procedure is performed before the children have visible symptoms, UCLA neurologist Raman Sankar said. Doctors are also having some success with gene therapy, in which the children undergo a transplant with their own stem cells rather than a donor’s, Sankar said.\u003c/p>\n\u003cp>The earlier the transplant, the better a child’s chance of survival, he said. “The delay may make the difference between whether he can have a lifesaving treatment or not.”\u003c/p>\n\u003cp>Before newborn screening, boys in the early stages of ALD frequently were incorrectly diagnosed with hyperactivity and other conditions, said Richard Olney, who heads the genetic disease screening program for the California public health department. “Many families had to go through a sort of diagnostic odyssey,” he said. “It only became clear as they developed progressively worse problems that they had a serious genetic condition.”\u003c/p>\n\u003cp>By the time a brain MRI was performed, there was often too much damage to save the child. That’s part of the challenge for clinicians who may not be familiar with ALD: “How do you know when this is a critical brain disease versus just a normal part of development?” Eichler said.\u003c/p>\n\u003cp>Those with the genetic mutation who do not develop the disease in childhood may still have a milder form as adults. People with the mutation also need to be monitored by an endocrinologist, because many will suffer from a condition in which their adrenal glands fail to produce enough of a stress hormone that is needed to fight infections.\u003c/p>\n\u003cp>Gina Cousineau’s 8-year-old son, Evan, was diagnosed with ALD in May 2007 after he came home from swim practice and had a seizure. Though he underwent a bone marrow transplant, Evan died from a secondary infection before he turned 9.\u003c/p>\n\u003cp>Cousineau lives in the southern Orange County city of San Clemente and helped lobby for the California law that requires ALD screening. She said newborn testing benefits infants with ALD and can help families discover that siblings or other relatives have the gene mutation.\u003c/p>\n\u003cp>“Thank God this newborn screening came into effect,” Cousineau said. “Knowledge is power. Had I had the knowledge with my son, Evan, he would be alive today.”\u003c/p>\n\u003cp>De Nies said she worries about Gregory’s future, but she’s confident her son will live a long life. And she credits Cousineau and other mothers whose sons didn’t have the same chance.\u003c/p>\n\u003cp>“Without them, we would never know about the gene mutation,” she said. “I just feel like they are our fairy godmothers.”\u003c/p>\n\u003cp>This story was produced by \u003ca href=\"http://khn.org/\">Kaiser Health News\u003c/a>, an editorially independent program of the \u003ca href=\"http://kff.org/\">Kaiser Family Foundation\u003c/a>.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\u003cem>\u003ca href=\"http://www.kaiserhealthnews.org/\">Kaiser Health News\u003c/a> (KHN) is a national health policy news service. It is an editorially independent program of the \u003ca href=\"http://www.kff.org/\">Henry J. Kaiser Family Foundation\u003c/a>.\u003c/em>\u003c/p>\n\n","blocks":[],"excerpt":"About 1 in every 18,000 people have the genetic disorder ALD, but only a handful of states screen babies for the gene mutation that causes it — a test that dramatically increases the chances of survival.","status":"publish","parent":0,"modified":1507578447,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":34,"wordCount":1430},"headData":{"title":"Fatal Genetic Disease Treatable if Caught Early, But Only Handful of States Test for It | KQED","description":"About 1 in every 18,000 people have the genetic disorder ALD, but only a handful of states screen babies for the gene mutation that causes it — a test that dramatically increases the chances of survival.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"Fatal Genetic Disease Treatable if Caught Early, But Only Handful of States Test for It","datePublished":"2017-10-09T19:35:58.000Z","dateModified":"2017-10-09T19:47:27.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"435930 https://ww2.kqed.org/futureofyou/?p=435930","disqusUrl":"https://ww2.kqed.org/futureofyou/2017/10/09/fatal-genetic-disease-treatable-if-caught-early-but-only-handful-of-states-test-for-it/","disqusTitle":"Fatal Genetic Disease Treatable if Caught Early, But Only Handful of States Test for It","source":"Future of You","nprByline":"Anna Gorman\u003cbr />Kaiser Health News","path":"/futureofyou/435930/fatal-genetic-disease-treatable-if-caught-early-but-only-handful-of-states-test-for-it","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>SAN DIEGO — Kerri De Nies received the news this spring from her son’s pediatrician: Her chubby-cheeked toddler had a rare brain disorder.\u003c/p>\n\u003cp>She’d never heard of the disease — adrenoleukodystrophy, or ALD — and she soon felt devastated and overwhelmed.\u003c/p>\n\u003caside class=\"pullquote alignright\">'If you pick it up in the early stages … you are at a much better place in terms of treating it effectively.'\u003ccite>Dr. Florian Eichler, Massachusetts General Hospital\u003c/cite>\u003c/aside>\n\u003cp>“I probably read everything you could possibly read online — every single website,” De Nies said as she cradled her son, Gregory Mac Phee. “It’s definitely hard to think about what could potentially happen. You think about the worst-case scenario.”\u003c/p>\n\u003cp>ALD is a \u003ca href=\"http://myelin.org/ald-adrenoleukodystrophy/\">brain disorder\u003c/a> depicted in the 1992 movie “Lorenzo’s Oil,” about a couple whose son became debilitated by the disease. The most serious form of the illness typically strikes boys between ages 4 and 10. Most are diagnosed too late for treatment to be successful, and they often die before their 10th birthday.\u003c/p>\n\u003cp>The more De Nies learned about ALD, the more she realized how fortunate she and Gregory were to have discovered it so early. Her son’s blood was tested when he was about 10 months old.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>California is one of only a handful of states nationwide that screens babies for the gene mutation that causes the disease — a test that dramatically increases Gregory’s chances of survival.\u003c/p>\n\u003caside class=\"pullquote alignright\">'It’s mind-boggling that not every state is testing.'\u003ccite>Kerri De Nies, mother of child with ALD\u003c/cite>\u003c/aside>\n\u003cp>The state began testing newborns for ALD in September 2016, seven months after the federal government added it to the list of recommended screenings. The testing included all babies born after February of that year.\u003c/p>\n\u003cp>“If you pick it up in the early stages … you are at a much better place in terms of treating it effectively,” said Florian Eichler, a neurologist at Massachusetts General Hospital. “That’s where the newborn screening is so important. It really helps you detect these boys at risk.”\u003c/p>\n\u003cp>Eichler said he has seen many families whose boys were diagnosed late. “Listening to families and their ordeal gives you a real sense of what this has done over generations and how much suffering could be prevented through the screening program,” he said.\u003c/p>\n\u003cp>New York was the first to begin screening, in 2013, followed last year by Connecticut and California. A few other states, including Pennsylvania and Minnesota, have since followed.\u003c/p>\n\u003cp>“It’s mind-boggling that not every state is testing,” said De Nies, who teaches children’s ballet in San Diego. “Families will not know until it could be too late for them.”\u003c/p>\n\u003cp>Advocates, including several moms who lost their sons to the disease, were instrumental in getting the \u003ca href=\"https://leginfo.legislature.ca.gov/faces/billNavClient.xhtml?bill_id=201320140AB1559\">screening law\u003c/a> passed in California. Now they are continuing to lobby legislators and pushing health officials to add ALD to screening panels across the nation.\u003c/p>\n\u003cp>Janis Sherwood said that since her son Sawyer’s death from ALD, she has felt an urgency to educate doctors, families and others about the disease. In the past few years, she turned her attention to newborn screening. She believes that as California collects data on how the boys do in treatment, other states will follow. “I think that we are going to see a domino effect as we get more states on board,” she said.\u003c/p>\n\u003cp>About 1 in every 18,000 people have ALD. Of boys with the genetic defect, about 30 to 40 percent will develop the life-threatening form of the disease, which leads to vision, gait and memory problems — and eventually death. It destroys myelin, the protective surface that surrounds some nerve cells.\u003c/p>\n\u003cp>Technicians draw the blood of newborns in the hospital soon after they are born. In California, state law requires that the blood be tested for about 80 diseases, including cystic fibrosis, severe combined immunodeficiency and primary congenital hypothyroidism.\u003c/p>\n\u003cp>Around the nation, testing kits cost a hospital or birthing facility about $120, said Jeff Botkin, who heads the medical ethics division at the University of Utah. “This is an extraordinarily low cost for this number of tests,” he said in an email. The tests are typically covered by insurers or Medicaid.\u003c/p>\n\u003cp>Some conditions on the screening list are relatively common, but ALD is among the rare disorders the tests ferret out that can lead to serious health issues or even death if not detected and treated, Botkin said.\u003c/p>\n\u003cp>There is no answer to the question of how common a condition should be to merit spending health care dollars to test for it, Botkin said. But many of the conditions for which the federal government recommends screening are rare, which means they could affect 1 in 50,000 babies or fewer. “The major question is whether the condition is treatable,” Botkin said.\u003c/p>\n\u003cp>Both boys and girls get tested for ALD because they can both be carriers of the genetic defect and develop the less serious adult form of the disease. Only boys, however, develop the more serious, ultimately fatal, childhood disease.\u003c/p>\n\u003cp>When doctors know that boys have the mutation, they perform brain MRIs beginning when the boys are toddlers. If an MRI starts to show telltale changes in the brain, doctors can intervene to halt the progression of the disease.\u003c/p>\n\u003cp>The common treatment, a bone marrow transplant, is risky and complicated, but it is often successful if the donor is a good match and the procedure is performed before the children have visible symptoms, UCLA neurologist Raman Sankar said. Doctors are also having some success with gene therapy, in which the children undergo a transplant with their own stem cells rather than a donor’s, Sankar said.\u003c/p>\n\u003cp>The earlier the transplant, the better a child’s chance of survival, he said. “The delay may make the difference between whether he can have a lifesaving treatment or not.”\u003c/p>\n\u003cp>Before newborn screening, boys in the early stages of ALD frequently were incorrectly diagnosed with hyperactivity and other conditions, said Richard Olney, who heads the genetic disease screening program for the California public health department. “Many families had to go through a sort of diagnostic odyssey,” he said. “It only became clear as they developed progressively worse problems that they had a serious genetic condition.”\u003c/p>\n\u003cp>By the time a brain MRI was performed, there was often too much damage to save the child. That’s part of the challenge for clinicians who may not be familiar with ALD: “How do you know when this is a critical brain disease versus just a normal part of development?” Eichler said.\u003c/p>\n\u003cp>Those with the genetic mutation who do not develop the disease in childhood may still have a milder form as adults. People with the mutation also need to be monitored by an endocrinologist, because many will suffer from a condition in which their adrenal glands fail to produce enough of a stress hormone that is needed to fight infections.\u003c/p>\n\u003cp>Gina Cousineau’s 8-year-old son, Evan, was diagnosed with ALD in May 2007 after he came home from swim practice and had a seizure. Though he underwent a bone marrow transplant, Evan died from a secondary infection before he turned 9.\u003c/p>\n\u003cp>Cousineau lives in the southern Orange County city of San Clemente and helped lobby for the California law that requires ALD screening. She said newborn testing benefits infants with ALD and can help families discover that siblings or other relatives have the gene mutation.\u003c/p>\n\u003cp>“Thank God this newborn screening came into effect,” Cousineau said. “Knowledge is power. Had I had the knowledge with my son, Evan, he would be alive today.”\u003c/p>\n\u003cp>De Nies said she worries about Gregory’s future, but she’s confident her son will live a long life. And she credits Cousineau and other mothers whose sons didn’t have the same chance.\u003c/p>\n\u003cp>“Without them, we would never know about the gene mutation,” she said. “I just feel like they are our fairy godmothers.”\u003c/p>\n\u003cp>This story was produced by \u003ca href=\"http://khn.org/\">Kaiser Health News\u003c/a>, an editorially independent program of the \u003ca href=\"http://kff.org/\">Kaiser Family Foundation\u003c/a>.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"floatright"},"numeric":["floatright"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003cem>\u003ca href=\"http://www.kaiserhealthnews.org/\">Kaiser Health News\u003c/a> (KHN) is a national health policy news service. It is an editorially independent program of the \u003ca href=\"http://www.kff.org/\">Henry J. Kaiser Family Foundation\u003c/a>.\u003c/em>\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/435930/fatal-genetic-disease-treatable-if-caught-early-but-only-handful-of-states-test-for-it","authors":["byline_futureofyou_435930"],"categories":["futureofyou_452","futureofyou_1","futureofyou_73","futureofyou_1064"],"tags":["futureofyou_1374","futureofyou_120","futureofyou_80"],"featImg":"futureofyou_435931","label":"source_futureofyou_435930"},"futureofyou_300937":{"type":"posts","id":"futureofyou_300937","meta":{"index":"posts_1591205157","site":"futureofyou","id":"300937","score":null,"sort":[1497965457000]},"guestAuthors":[],"slug":"when-scientists-failed-them-parents-unlocked-genetics-of-kids-disease","title":"When Scientists Failed Them, Parents Unlocked Genetics of Kids’ Disease","publishDate":1497965457,"format":"audio","headTitle":"KQED Future of You | KQED Science","labelTerm":{"site":"futureofyou"},"content":"\u003cp>\u003ciframe src=\"https://embed.ted.com/talks/sharon_terry_science_didn_t_understand_my_kids_rare_disease_until_i_decided_to_study_it\" width=\"640\" height=\"360\" frameborder=\"0\" scrolling=\"no\" webkitallowfullscreen mozallowfullscreen allowfullscreen>\u003c/iframe>\u003c/p>\n\u003cp>\u003cem>Update June 20, 2017:\u003c/em> The video of Sharon Terry's talk at TEDMED has been released.\u003c/p>\n\u003cp>In the mid-1990s, Sharon Terry learned that her two young children had a rare genetic disease called \u003ca href=\"https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum\">pseudoxanthoma elasticum\u003c/a>, also known as Grönblad–Strandberg syndrome and more commonly called PXE.\u003c/p>\n\u003cp>PXE is a slow progressive disease that hardens connective tissue, causing loose, wrinkly skin in the neck, under the arms, around the groin and behind the knees.\u003c/p>\n\u003cp>“There was a moment of just complete devastation that my two beautiful, perfect, wonderful children had a disease that I didn’t understand,” Terry says.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>\u003cstrong>Disillusioned by Experts\u003c/strong>\u003c/p>\n\u003cp>The good news was that the Boston family had time. Terry’s five- and seven-year-old might look elderly by the time they were 20, but they had several years before the disease triggered severe aging, obscured their vision or impaired their blood vessels.\u003c/p>\n\u003caside class=\"pullquote alignright\">'We're going to get you to come to us, and play by our rules. And our rule is, ‘You have to share with other scientists.’ \u003ccite>Sharon Terry\u003c/cite>\u003c/aside>\n\u003cp>The bad news was that doctors and researchers knew very little about PXE, and the little they did wasn't being shared across labs. Terry watched, furious, as one group of researchers extracted vials of blood from her children’s arms, only to have a different team of scientists poke and prod her kids for a new set of samples a few days later.\u003c/p>\n\u003cp>“We saw, over and over, intense competition,” says Terry. “We had to figure out how to get these scientists to play with each other.”\u003c/p>\n\u003cp>[audio src=\"hhttp://www.kqed.org/.stream/anon/radio/science/2016/12/WEBGeneticSupermom161219.mp3\" title=\"Listen to the radio story\" program=\"Future of You\" image=\"https://ww2.kqed.org/science/wp-content/uploads/sites/35/2017/05/SciencePlayer_BG.jpeg\"]\u003c/p>\n\u003cp>\u003cstrong>'Take the Bull By the Horns'\u003c/strong>\u003c/p>\n\u003cp>The family took an unconventional approach to orchestrating their children’s care, especially given that neither parent had a background in science. Terry has a master’s degree in religious studies. She was a college chaplain before she became a full-time mom. Her husband is a construction manager with a concentration in drafting from a trade school.\u003c/p>\n\u003cfigure id=\"attachment_302165\" class=\"wp-caption alignleft\" style=\"max-width: 433px\">\u003cimg class=\"wp-image-302165\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/12/2005-800x540.jpg\" alt=\"Sister and brother Elizabeth and Ian Terry in 2005.\" width=\"433\" height=\"292\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-800x540.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-160x108.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-768x518.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-240x162.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-375x253.jpg 375w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-520x351.jpg 520w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005.jpg 900w\" sizes=\"(max-width: 433px) 100vw, 433px\">\u003cfigcaption class=\"wp-caption-text\">Sister and brother Elizabeth and Ian Terry in 2005. \u003ccite>(Sharon Terry)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\"We decided that we had to take the bull by the horns and, first, learn what we could about the disease,\" Terry says. \"We quickly learned there really wasn't anything to learn about the disease.\"\u003c/p>\n\u003cp>Somehow the diligent couple convinced researchers at Harvard to lend them bench space to better understand the genetics driving PXE.\u003c/p>\n\u003cp>Every night the supermom and superdad spent six hours in a lab collecting blood and tissue samples, extracting DNA, and deciphering the code. Generous postdoctoral students tutored the couple until the wee hours of the morning. And, after a couple of years, Terry and her husband discovered the gene behind PXE.\u003c/p>\n\u003caside class=\"pullquote alignright\">'This year we actually have four different treatments that we think are going to be effective.'\u003ccite>Sharon Terry\u003c/cite>\u003c/aside>\n\u003cp>Eventually they built a diagnostic test and posted all of their data on an open online consortium, which Terry now runs, called \u003ca href=\"http://www.geneticalliance.org/advocacy\">Genetic Alliance\u003c/a>.\u003c/p>\n\u003cp>“Cats can be herded if you move their food,” says Terry. “And so we basically said the food is DNA and clinical histories. We're going to put that together, and we're going to get you to come to us, and play by our rules. And our rule is, ‘You have to share with other scientists.'\"\u003c/p>\n\u003cp>\u003cstrong>A Cure on the Horizon\u003c/strong>\u003c/p>\n\u003cp>Genetic Alliance offers a suite of tools to help other families who receive a devastating diagnosis. The advocacy organization offers advice on how to do scientific research, how to talk to kids about genetic disease and how to become an activist on Capitol Hill.\u003c/p>\n\u003cp>Terry’s children, now 27 and 29, are now closer to a cure than at any time since their diagnoses two decades ago.\u003c/p>\n\u003cp>“This year we actually have four different treatments that we think are going to be effective,” Terry says. “They've been effective in our mouse model. We're now looking at moving into human clinical trials for these treatments.”\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>Terry hopes her story will inspire other families to take action when a doctor delivers crushing news. She recently shared her story on stage at the TEDMED health conference in Palm Springs.\u003c/p>\n\n","blocks":[],"excerpt":"With no background in science, these parents were able to identify the gene causing their childrens' rare disease.","status":"publish","parent":0,"modified":1520291651,"stats":{"hasAudio":true,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":23,"wordCount":759},"headData":{"title":"When Scientists Failed Them, Parents Unlocked Genetics of Kids’ Disease | KQED","description":"With no background in science, these parents were able to identify the gene causing their childrens' rare disease.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"When Scientists Failed Them, Parents Unlocked Genetics of Kids’ Disease","datePublished":"2017-06-20T13:30:57.000Z","dateModified":"2018-03-05T23:14:11.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"300937 http://ww2.kqed.org/futureofyou/?p=300937","disqusUrl":"https://ww2.kqed.org/futureofyou/2017/06/20/when-scientists-failed-them-parents-unlocked-genetics-of-kids-disease/","disqusTitle":"When Scientists Failed Them, Parents Unlocked Genetics of Kids’ Disease","audioUrl":"http://www.kqed.org/.stream/anon/radio/science/2016/12/WEBGeneticSupermom161219.mp3","customPermalink":"2016/12/16/when-scientists-failed-them-parents-unlocked-genetics-of-kids-disease/","path":"/futureofyou/300937/when-scientists-failed-them-parents-unlocked-genetics-of-kids-disease","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003ciframe src=\"https://embed.ted.com/talks/sharon_terry_science_didn_t_understand_my_kids_rare_disease_until_i_decided_to_study_it\" width=\"640\" height=\"360\" frameborder=\"0\" scrolling=\"no\" webkitallowfullscreen mozallowfullscreen allowfullscreen>\u003c/iframe>\u003c/p>\n\u003cp>\u003cem>Update June 20, 2017:\u003c/em> The video of Sharon Terry's talk at TEDMED has been released.\u003c/p>\n\u003cp>In the mid-1990s, Sharon Terry learned that her two young children had a rare genetic disease called \u003ca href=\"https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum\">pseudoxanthoma elasticum\u003c/a>, also known as Grönblad–Strandberg syndrome and more commonly called PXE.\u003c/p>\n\u003cp>PXE is a slow progressive disease that hardens connective tissue, causing loose, wrinkly skin in the neck, under the arms, around the groin and behind the knees.\u003c/p>\n\u003cp>“There was a moment of just complete devastation that my two beautiful, perfect, wonderful children had a disease that I didn’t understand,” Terry says.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003cstrong>Disillusioned by Experts\u003c/strong>\u003c/p>\n\u003cp>The good news was that the Boston family had time. Terry’s five- and seven-year-old might look elderly by the time they were 20, but they had several years before the disease triggered severe aging, obscured their vision or impaired their blood vessels.\u003c/p>\n\u003caside class=\"pullquote alignright\">'We're going to get you to come to us, and play by our rules. And our rule is, ‘You have to share with other scientists.’ \u003ccite>Sharon Terry\u003c/cite>\u003c/aside>\n\u003cp>The bad news was that doctors and researchers knew very little about PXE, and the little they did wasn't being shared across labs. Terry watched, furious, as one group of researchers extracted vials of blood from her children’s arms, only to have a different team of scientists poke and prod her kids for a new set of samples a few days later.\u003c/p>\n\u003cp>“We saw, over and over, intense competition,” says Terry. “We had to figure out how to get these scientists to play with each other.”\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"audio","attributes":{"named":{"src":"hhttp://www.kqed.org/.stream/anon/radio/science/2016/12/WEBGeneticSupermom161219.mp3","title":"Listen to the radio story","program":"Future of You","image":"https://ww2.kqed.org/science/wp-content/uploads/sites/35/2017/05/SciencePlayer_BG.jpeg","label":""},"numeric":[]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003cstrong>'Take the Bull By the Horns'\u003c/strong>\u003c/p>\n\u003cp>The family took an unconventional approach to orchestrating their children’s care, especially given that neither parent had a background in science. Terry has a master’s degree in religious studies. She was a college chaplain before she became a full-time mom. Her husband is a construction manager with a concentration in drafting from a trade school.\u003c/p>\n\u003cfigure id=\"attachment_302165\" class=\"wp-caption alignleft\" style=\"max-width: 433px\">\u003cimg class=\"wp-image-302165\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/12/2005-800x540.jpg\" alt=\"Sister and brother Elizabeth and Ian Terry in 2005.\" width=\"433\" height=\"292\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-800x540.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-160x108.jpg 160w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-768x518.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-240x162.jpg 240w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-375x253.jpg 375w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005-520x351.jpg 520w, https://ww2.kqed.org/app/uploads/sites/13/2016/12/2005.jpg 900w\" sizes=\"(max-width: 433px) 100vw, 433px\">\u003cfigcaption class=\"wp-caption-text\">Sister and brother Elizabeth and Ian Terry in 2005. \u003ccite>(Sharon Terry)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\"We decided that we had to take the bull by the horns and, first, learn what we could about the disease,\" Terry says. \"We quickly learned there really wasn't anything to learn about the disease.\"\u003c/p>\n\u003cp>Somehow the diligent couple convinced researchers at Harvard to lend them bench space to better understand the genetics driving PXE.\u003c/p>\n\u003cp>Every night the supermom and superdad spent six hours in a lab collecting blood and tissue samples, extracting DNA, and deciphering the code. Generous postdoctoral students tutored the couple until the wee hours of the morning. And, after a couple of years, Terry and her husband discovered the gene behind PXE.\u003c/p>\n\u003caside class=\"pullquote alignright\">'This year we actually have four different treatments that we think are going to be effective.'\u003ccite>Sharon Terry\u003c/cite>\u003c/aside>\n\u003cp>Eventually they built a diagnostic test and posted all of their data on an open online consortium, which Terry now runs, called \u003ca href=\"http://www.geneticalliance.org/advocacy\">Genetic Alliance\u003c/a>.\u003c/p>\n\u003cp>“Cats can be herded if you move their food,” says Terry. “And so we basically said the food is DNA and clinical histories. We're going to put that together, and we're going to get you to come to us, and play by our rules. And our rule is, ‘You have to share with other scientists.'\"\u003c/p>\n\u003cp>\u003cstrong>A Cure on the Horizon\u003c/strong>\u003c/p>\n\u003cp>Genetic Alliance offers a suite of tools to help other families who receive a devastating diagnosis. The advocacy organization offers advice on how to do scientific research, how to talk to kids about genetic disease and how to become an activist on Capitol Hill.\u003c/p>\n\u003cp>Terry’s children, now 27 and 29, are now closer to a cure than at any time since their diagnoses two decades ago.\u003c/p>\n\u003cp>“This year we actually have four different treatments that we think are going to be effective,” Terry says. “They've been effective in our mouse model. We're now looking at moving into human clinical trials for these treatments.”\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>Terry hopes her story will inspire other families to take action when a doctor delivers crushing news. She recently shared her story on stage at the TEDMED health conference in Palm Springs.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/300937/when-scientists-failed-them-parents-unlocked-genetics-of-kids-disease","authors":["11229"],"categories":["futureofyou_1060","futureofyou_1062","futureofyou_73","futureofyou_1064"],"tags":["futureofyou_141","futureofyou_1275","futureofyou_120","futureofyou_80","futureofyou_1148","futureofyou_656"],"featImg":"futureofyou_302164","label":"futureofyou"}},"programsReducer":{"possible":{"id":"possible","title":"Possible","info":"Possible is hosted by entrepreneur Reid Hoffman and writer Aria Finger. Together in Possible, Hoffman and Finger lead enlightening discussions about building a brighter collective future. The show features interviews with visionary guests like Trevor Noah, Sam Altman and Janette Sadik-Khan. 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Because everyone needs a little help being human.\u003cbr />\u003cbr />\u003ca href=\"https://www.npr.org/podcasts/510312/codeswitch\">\u003cem>Code Switch\u003c/em> offical site and podcast\u003c/a>\u003cbr />\u003ca href=\"https://www.npr.org/lifekit\">\u003cem>Life Kit\u003c/em> offical site and podcast\u003c/a>\u003cbr />","airtime":"SUN 9pm-10pm","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Code-Switch-Life-Kit-Podcast-Tile-360x360-1.jpg","meta":{"site":"radio","source":"npr"},"link":"/radio/program/code-switch-life-kit","subscribe":{"apple":"https://podcasts.apple.com/podcast/1112190608?mt=2&at=11l79Y&ct=nprdirectory","google":"https://podcasts.google.com/feed/aHR0cHM6Ly93d3cubnByLm9yZy9yc3MvcG9kY2FzdC5waHA_aWQ9NTEwMzEy","spotify":"https://open.spotify.com/show/3bExJ9JQpkwNhoHvaIIuyV","rss":"https://feeds.npr.org/510312/podcast.xml"}},"commonwealth-club":{"id":"commonwealth-club","title":"Commonwealth Club of California Podcast","info":"The Commonwealth Club of California is the nation's oldest and largest public affairs forum. 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