Lipedema: The Fat Disorder That Millions Have But No One Has Heard Of
Stirrings of Hope for Families Isolated by Rarest of Genetic Conditions
You Have a Dominant Trait that Tends to Cause Disease. Should you Tell Your Partner?
We Must Be Very Careful With Human Genetic Engineering
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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=\"https://ww2.kqed.org/science/author/dr-barry-starr/\">additional posts by Barry at KQED Science\u003c/a>, and read his \u003ca href=\"http://science.kqed.org/quest/author/dr-barry-starr/\">previous contributions\u003c/a> to \u003ca href=\"http://science.kqed.org/quest/\">QUEST\u003c/a>, a project dedicated to exploring the Science of Sustainability.","avatar":"https://secure.gravatar.com/avatar/4a5680e4c642ea0f0f3041af16018969?s=600&d=blank&r=g","twitter":"geneticsboy","facebook":null,"instagram":null,"linkedin":null,"sites":[{"site":"science","roles":["author"]},{"site":"quest","roles":["subscriber"]}],"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/dr-barry-starr"},"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_244604":{"type":"posts","id":"futureofyou_244604","meta":{"index":"posts_1591205157","site":"futureofyou","id":"244604","score":null,"sort":[1474295459000]},"guestAuthors":[],"slug":"lipedema-the-fat-disorder-that-millions-have-but-no-one-has-heard-of","title":"Lipedema: The Fat Disorder That Millions Have But No One Has Heard Of","publishDate":1474295459,"format":"audio","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>In college Judy Maggiore remembers looking in the mirror, perplexed by her body’s disproportion.\u003c/p>\n\u003cp>\"I was skinny. I was a stick. The upper part of my body was really, really thin. You could see my ribs!\" exclaims Maggiore. \"But from the waist down, it was like there were two of me or something.\"\u003c/p>\n\u003cp>Tree trunk-like legs and a slim upper body are the signature characteristic of a lipedema patient. You can starve yourself and exercise for hours a day and the fat will not regress. But Maggiore didn’t know that at the time. She swore off bathing suits and hit the gym fanatically.\u003c/p>\n\u003cp>Even though she was mystified by her body, she didn't consider going to the doctor. \"Clearly, there was something wrong with me. I wasn’t eating the right things. I wasn’t exercising correctly.\"\u003c/p>\n\u003cfigure id=\"attachment_244616\" class=\"wp-caption aligncenter\" style=\"max-width: 800px\">\u003cimg class=\"wp-image-244616 size-medium\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/09/IMG_0761-800x600.jpg\" alt=\"Judy Maggiore eats a salad everyday for lunch. \" width=\"800\" height=\"600\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-800x600.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-400x300.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-768x576.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-1180x885.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-1920x1440.jpg 1920w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-960x720.jpg 960w\" sizes=\"(max-width: 800px) 100vw, 800px\">\u003cfigcaption class=\"wp-caption-text\">Judy Maggiore eats a salad every day for lunch. \u003ccite>(Lesley McClurg/KQED)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Yet she tried every diet imaginable, from Atkins to Weight Watchers to Jenny Craig. Nothing worked.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>Finally, last year -- when she was 68 years old -- a lymphatic specialist shocked her with a diagnosis of lipedema.\u003c/p>\n\u003cp>\"I was like, 'Whoa!'\" exclaims Maggiore. \"I’ve never heard that before. They have a name for it and it’s not my fault!\"\u003c/p>\n\u003cp>\u003cstrong>Tricky Diagnosis\u003c/strong>\u003c/p>\n\u003cp>Lipedema is a lymphatic disease that is thought to affect 10 to 17 million people in America, mostly women. Exact patient estimates are not available because it’s hard to diagnose. In fact, many lipedema patients don’t even know they have it. Neither do their physicians, who often assume their patients are obese. Plus, doctors often confuse lipedema with lymphedema -- a prevalent lymphatic disease that presents similar symptoms. Maggiore says every doctor she saw throughout her life told her she needed to lose weight.\u003c/p>\n\u003cp>There isn’t a standard exam like a blood or urine test for lipedema. Instead, doctors use physical clues, like the unusual texture of the skin. It starts to feel like sand, then pebbles, and then small stones. The fat cells keep enlarging and increasing.\u003c/p>\n\u003cp>\"It’s like being wrapped in bubble wrap,\" says Maggiore.\u003cb>\u003cbr>\n\u003c/b>\u003c/p>\n\u003cp>The causes are mysterious too, although early \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmed/20358611\" target=\"_blank\">studies\u003c/a> suggest lipedema is a genetic condition in women. It seems the disease is hormonally triggered, as the onset is usually around puberty, and symptoms worsen during childbirth and menopause.\u003c/p>\n\u003cp>\"We just have the earliest clues about where to look and what to think about,\" says \u003ca href=\"https://med.stanford.edu/profiles/stanley-rockson\" target=\"_blank\">Dr. Stanley Rockson\u003c/a>, a professor and researcher at Stanford University.\u003c/p>\n\u003cp>Usually fat cells increase when you overeat, and then decrease when you diet -- but something goes awry in lipedema patients. Rockson uses the metaphor of a bank to illustrate how cells in lipedema patients work.\u003c/p>\n\u003cp>\"They’re a very unusual bank, because they accept deposits but no withdrawals,\" says Rockson. \"So once they accumulate material, it never comes out again.\"\u003c/p>\n\u003cp>Rockson is one of only a handful of lipedema specialists in the world trying to understand the disease's pathology. In a current study, he’s analyzing tissue samples from the legs and abdomen to better understand why subcutaneous fat accumulates primarily in the lower body. He’s also testing anti-inflammatory drugs that have worked on other lymphatic diseases to reduce pain. And he's one of the founders of an \u003ca href=\"http://lymphaticnetwork.org/\" target=\"_blank\">international registry\u003c/a> collecting the medical records of patients who suffer from lymphatic diseases. He hopes the research will eventually lead to treatments for the disease. As of now, doctors have few options for patients.\u003c/p>\n\u003cp>\u003cstrong>Liposuction Offers Some Hope\u003cbr>\n\u003c/strong>\u003c/p>\n\u003cp>The only long-term treatment is liposuction, and Judy Maggiore is terrified of surgery. But some women don’t have a choice.\u003c/p>\n\u003cp>\u003ciframe width=\"640\" height=\"360\" src=\"https://www.youtube.com/embed/WPwhWfFhlYc?feature=oembed\" frameborder=\"0\" allow=\"autoplay; encrypted-media\" allowfullscreen>\u003c/iframe>\u003cbr>\n\u003csmall>\u003cem>VIDEO: Marlene Simpson's liposuction surgery to treat lipedema, conducted by Dr. David Amron.\u003c/em>\u003c/small>\u003c/p>\n\u003cp>When Marlene Simpson’s scale topped three hundred pounds, she was desperate for thinner legs. She wasn't sleeping, which lead to exhaustion and made functioning at work nearly impossible.\u003c/p>\n\u003cp>But her initial appointment with a plastic surgeon was devastating. The physician denied her self-diagnosis. \"He told me that I shouldn’t believe what I see on the Internet,\" says Simpson.\u003c/p>\n\u003cp>But she didn't give up. More Internet research led her to \u003ca href=\"http://www.amronmd.com/about/meet-dr-amron/\" target=\"_blank\">Dr. David Amron\u003c/a>, a Beverly Hills surgeon. She booked a flight as soon as possible. After two surgeries, Simpson’s legs were 24 pounds lighter.\u003c/p>\n\u003cfigure id=\"attachment_244610\" class=\"wp-caption aligncenter\" style=\"max-width: 634px\">\u003cimg class=\"size-medium wp-image-244610\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/09/Marlene-Simpson-Legs-634x600.jpg\" alt=\"Marlene Simpson's legs before and after liposuction surgery to treat her lipedema. \" width=\"634\" height=\"600\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlene-Simpson-Legs-634x600.jpg 634w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlene-Simpson-Legs-400x378.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlene-Simpson-Legs-768x726.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlene-Simpson-Legs.jpg 774w\" sizes=\"(max-width: 634px) 100vw, 634px\">\u003cfigcaption class=\"wp-caption-text\">Marlene Simpson's legs before and after liposuction surgery to treat her lipedema.\u003c/figcaption>\u003c/figure>\n\u003cp>When she returned home to Sacramento, she felt like a new person.\u003c/p>\n\u003cp>\"It wasn’t ‘til I had surgery that I just realized that I was in a lot of pain,\" says Simpson.\u003c/p>\n\u003cp>Simpson's pain is caused by all the extra weight pressing on her nerves and lymph vessels. Over time, lipedema can be debilitating because blood clots, skin ulcers and recurrent infections can develop.\u003c/p>\n\u003cp>\u003cstrong>A Medical Unknown\u003cbr>\n\u003c/strong>\u003c/p>\n\u003cp>But the relief put Simpson back $21,000 because her insurance denied the procedure. The company claims that liposuction is a cosmetic procedure, and it is not a recognized treatment for lipedema.\u003c/p>\n\u003cp>But Amron says liposuction \u003ci>does\u003c/i> work. If patients continue to diet and exercise, he swears the fat should not come back.\u003c/p>\n\u003cfigure id=\"attachment_244641\" class=\"wp-caption aligncenter\" style=\"max-width: 600px\">\u003cimg class=\"size-medium wp-image-244641\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/09/Marlenes-fat-600x600.jpg\" alt=\"The fat that was removed from Marlene Simpson's legs during liposuction surgery. \" width=\"600\" height=\"600\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-600x600.jpg 600w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-400x400.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-768x768.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-1180x1180.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-1920x1920.jpg 1920w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-960x960.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-32x32.jpg 32w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-50x50.jpg 50w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-64x64.jpg 64w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-96x96.jpg 96w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-128x128.jpg 128w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-150x150.jpg 150w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat.jpg 2048w\" sizes=\"(max-width: 600px) 100vw, 600px\">\u003cfigcaption class=\"wp-caption-text\">The fat removed from Marlene Simpson's legs during liposuction surgery.\u003c/figcaption>\u003c/figure>\n\u003cp>Ninety percent of Dr. Amron’s clientele have lipedema. They come to him for liposuction.\u003c/p>\n\u003cp>\"They found their way to me about ten years ago when I started doing lipedema patients, and I’d never even heard of the condition,\" says Amron\u003cstrong>.\u003c/strong>\u003c/p>\n\u003cp>\u003cstrong>Ignored by the Medical Community\u003c/strong>\u003c/p>\n\u003cp>In fact, most doctors haven’t heard of lipedema. A 2004 Stanford University \u003ca href=\"http://www.journaloflymphoedema.com/media/journals/_/1108/files/jol6-1-44-9.pdf\" target=\"_blank\">study\u003c/a> showed that most U.S. medical schools spend less than 30 minutes teaching the entire lymphatic system.\u003c/p>\n\u003cp>\"So, not surprisingly, doctors don’t know a lot about these diseases or the underlying conditions,\" says Rockson. \"If you poll 100 physicians off the street, you might find one that knows the term lipedema, and that one might not have much to say about it other than a recognition of the name.\"\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>One of his patients, Judy Maggiore, hopes to someday benefit from his research. In the meantime, her daily lunch is a bowl filled with vegetables, and even though she usually skips dinner, the flab on her legs continues to thicken, causing chronic pain. She savors each bite slowly, in hopes of keeping fat cells at bay.\u003c/p>\n\n","blocks":[],"excerpt":"Millions of women are suffering from a disease that poses as obesity. Most patients don’t know they have it, and doctors haven’t heard of it. Plus, dieting doesn’t work because the patients have abnormal fat cells that never go away. ","status":"publish","parent":0,"modified":1482442886,"stats":{"hasAudio":false,"hasVideo":true,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":36,"wordCount":1087},"headData":{"title":"Lipedema: The Fat Disorder That Millions Have But No One Has Heard Of | KQED","description":"Millions of women are suffering from a disease that poses as obesity. Most patients don’t know they have it, and doctors haven’t heard of it. Plus, dieting doesn’t work because the patients have abnormal fat cells that never go away. ","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"Lipedema: The Fat Disorder That Millions Have But No One Has Heard Of","datePublished":"2016-09-19T14:30:59.000Z","dateModified":"2016-12-22T21:41:26.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"244604 http://ww2.kqed.org/futureofyou/?p=244604","disqusUrl":"https://ww2.kqed.org/futureofyou/2016/09/19/lipedema-the-fat-disorder-that-millions-have-but-no-one-has-heard-of/","disqusTitle":"Lipedema: The Fat Disorder That Millions Have But No One Has Heard Of","source":"Future of You","audioUrl":"http://www.kqed.org/.stream/anon/radio/science/2016/09/LipedemaMcClurg160919.mp3","path":"/futureofyou/244604/lipedema-the-fat-disorder-that-millions-have-but-no-one-has-heard-of","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>In college Judy Maggiore remembers looking in the mirror, perplexed by her body’s disproportion.\u003c/p>\n\u003cp>\"I was skinny. I was a stick. The upper part of my body was really, really thin. You could see my ribs!\" exclaims Maggiore. \"But from the waist down, it was like there were two of me or something.\"\u003c/p>\n\u003cp>Tree trunk-like legs and a slim upper body are the signature characteristic of a lipedema patient. You can starve yourself and exercise for hours a day and the fat will not regress. But Maggiore didn’t know that at the time. She swore off bathing suits and hit the gym fanatically.\u003c/p>\n\u003cp>Even though she was mystified by her body, she didn't consider going to the doctor. \"Clearly, there was something wrong with me. I wasn’t eating the right things. I wasn’t exercising correctly.\"\u003c/p>\n\u003cfigure id=\"attachment_244616\" class=\"wp-caption aligncenter\" style=\"max-width: 800px\">\u003cimg class=\"wp-image-244616 size-medium\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/09/IMG_0761-800x600.jpg\" alt=\"Judy Maggiore eats a salad everyday for lunch. \" width=\"800\" height=\"600\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-800x600.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-400x300.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-768x576.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-1180x885.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-1920x1440.jpg 1920w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/IMG_0761-960x720.jpg 960w\" sizes=\"(max-width: 800px) 100vw, 800px\">\u003cfigcaption class=\"wp-caption-text\">Judy Maggiore eats a salad every day for lunch. \u003ccite>(Lesley McClurg/KQED)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Yet she tried every diet imaginable, from Atkins to Weight Watchers to Jenny Craig. Nothing worked.\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>Finally, last year -- when she was 68 years old -- a lymphatic specialist shocked her with a diagnosis of lipedema.\u003c/p>\n\u003cp>\"I was like, 'Whoa!'\" exclaims Maggiore. \"I’ve never heard that before. They have a name for it and it’s not my fault!\"\u003c/p>\n\u003cp>\u003cstrong>Tricky Diagnosis\u003c/strong>\u003c/p>\n\u003cp>Lipedema is a lymphatic disease that is thought to affect 10 to 17 million people in America, mostly women. Exact patient estimates are not available because it’s hard to diagnose. In fact, many lipedema patients don’t even know they have it. Neither do their physicians, who often assume their patients are obese. Plus, doctors often confuse lipedema with lymphedema -- a prevalent lymphatic disease that presents similar symptoms. Maggiore says every doctor she saw throughout her life told her she needed to lose weight.\u003c/p>\n\u003cp>There isn’t a standard exam like a blood or urine test for lipedema. Instead, doctors use physical clues, like the unusual texture of the skin. It starts to feel like sand, then pebbles, and then small stones. The fat cells keep enlarging and increasing.\u003c/p>\n\u003cp>\"It’s like being wrapped in bubble wrap,\" says Maggiore.\u003cb>\u003cbr>\n\u003c/b>\u003c/p>\n\u003cp>The causes are mysterious too, although early \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmed/20358611\" target=\"_blank\">studies\u003c/a> suggest lipedema is a genetic condition in women. It seems the disease is hormonally triggered, as the onset is usually around puberty, and symptoms worsen during childbirth and menopause.\u003c/p>\n\u003cp>\"We just have the earliest clues about where to look and what to think about,\" says \u003ca href=\"https://med.stanford.edu/profiles/stanley-rockson\" target=\"_blank\">Dr. Stanley Rockson\u003c/a>, a professor and researcher at Stanford University.\u003c/p>\n\u003cp>Usually fat cells increase when you overeat, and then decrease when you diet -- but something goes awry in lipedema patients. Rockson uses the metaphor of a bank to illustrate how cells in lipedema patients work.\u003c/p>\n\u003cp>\"They’re a very unusual bank, because they accept deposits but no withdrawals,\" says Rockson. \"So once they accumulate material, it never comes out again.\"\u003c/p>\n\u003cp>Rockson is one of only a handful of lipedema specialists in the world trying to understand the disease's pathology. In a current study, he’s analyzing tissue samples from the legs and abdomen to better understand why subcutaneous fat accumulates primarily in the lower body. He’s also testing anti-inflammatory drugs that have worked on other lymphatic diseases to reduce pain. And he's one of the founders of an \u003ca href=\"http://lymphaticnetwork.org/\" target=\"_blank\">international registry\u003c/a> collecting the medical records of patients who suffer from lymphatic diseases. He hopes the research will eventually lead to treatments for the disease. As of now, doctors have few options for patients.\u003c/p>\n\u003cp>\u003cstrong>Liposuction Offers Some Hope\u003cbr>\n\u003c/strong>\u003c/p>\n\u003cp>The only long-term treatment is liposuction, and Judy Maggiore is terrified of surgery. But some women don’t have a choice.\u003c/p>\n\u003cp>\u003ciframe width=\"640\" height=\"360\" src=\"https://www.youtube.com/embed/WPwhWfFhlYc?feature=oembed\" frameborder=\"0\" allow=\"autoplay; encrypted-media\" allowfullscreen>\u003c/iframe>\u003cbr>\n\u003csmall>\u003cem>VIDEO: Marlene Simpson's liposuction surgery to treat lipedema, conducted by Dr. David Amron.\u003c/em>\u003c/small>\u003c/p>\n\u003cp>When Marlene Simpson’s scale topped three hundred pounds, she was desperate for thinner legs. She wasn't sleeping, which lead to exhaustion and made functioning at work nearly impossible.\u003c/p>\n\u003cp>But her initial appointment with a plastic surgeon was devastating. The physician denied her self-diagnosis. \"He told me that I shouldn’t believe what I see on the Internet,\" says Simpson.\u003c/p>\n\u003cp>But she didn't give up. More Internet research led her to \u003ca href=\"http://www.amronmd.com/about/meet-dr-amron/\" target=\"_blank\">Dr. David Amron\u003c/a>, a Beverly Hills surgeon. She booked a flight as soon as possible. After two surgeries, Simpson’s legs were 24 pounds lighter.\u003c/p>\n\u003cfigure id=\"attachment_244610\" class=\"wp-caption aligncenter\" style=\"max-width: 634px\">\u003cimg class=\"size-medium wp-image-244610\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/09/Marlene-Simpson-Legs-634x600.jpg\" alt=\"Marlene Simpson's legs before and after liposuction surgery to treat her lipedema. \" width=\"634\" height=\"600\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlene-Simpson-Legs-634x600.jpg 634w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlene-Simpson-Legs-400x378.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlene-Simpson-Legs-768x726.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlene-Simpson-Legs.jpg 774w\" sizes=\"(max-width: 634px) 100vw, 634px\">\u003cfigcaption class=\"wp-caption-text\">Marlene Simpson's legs before and after liposuction surgery to treat her lipedema.\u003c/figcaption>\u003c/figure>\n\u003cp>When she returned home to Sacramento, she felt like a new person.\u003c/p>\n\u003cp>\"It wasn’t ‘til I had surgery that I just realized that I was in a lot of pain,\" says Simpson.\u003c/p>\n\u003cp>Simpson's pain is caused by all the extra weight pressing on her nerves and lymph vessels. Over time, lipedema can be debilitating because blood clots, skin ulcers and recurrent infections can develop.\u003c/p>\n\u003cp>\u003cstrong>A Medical Unknown\u003cbr>\n\u003c/strong>\u003c/p>\n\u003cp>But the relief put Simpson back $21,000 because her insurance denied the procedure. The company claims that liposuction is a cosmetic procedure, and it is not a recognized treatment for lipedema.\u003c/p>\n\u003cp>But Amron says liposuction \u003ci>does\u003c/i> work. If patients continue to diet and exercise, he swears the fat should not come back.\u003c/p>\n\u003cfigure id=\"attachment_244641\" class=\"wp-caption aligncenter\" style=\"max-width: 600px\">\u003cimg class=\"size-medium wp-image-244641\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/09/Marlenes-fat-600x600.jpg\" alt=\"The fat that was removed from Marlene Simpson's legs during liposuction surgery. \" width=\"600\" height=\"600\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-600x600.jpg 600w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-400x400.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-768x768.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-1180x1180.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-1920x1920.jpg 1920w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-960x960.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-32x32.jpg 32w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-50x50.jpg 50w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-64x64.jpg 64w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-96x96.jpg 96w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-128x128.jpg 128w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat-150x150.jpg 150w, https://ww2.kqed.org/app/uploads/sites/13/2016/09/Marlenes-fat.jpg 2048w\" sizes=\"(max-width: 600px) 100vw, 600px\">\u003cfigcaption class=\"wp-caption-text\">The fat removed from Marlene Simpson's legs during liposuction surgery.\u003c/figcaption>\u003c/figure>\n\u003cp>Ninety percent of Dr. Amron’s clientele have lipedema. They come to him for liposuction.\u003c/p>\n\u003cp>\"They found their way to me about ten years ago when I started doing lipedema patients, and I’d never even heard of the condition,\" says Amron\u003cstrong>.\u003c/strong>\u003c/p>\n\u003cp>\u003cstrong>Ignored by the Medical Community\u003c/strong>\u003c/p>\n\u003cp>In fact, most doctors haven’t heard of lipedema. A 2004 Stanford University \u003ca href=\"http://www.journaloflymphoedema.com/media/journals/_/1108/files/jol6-1-44-9.pdf\" target=\"_blank\">study\u003c/a> showed that most U.S. medical schools spend less than 30 minutes teaching the entire lymphatic system.\u003c/p>\n\u003cp>\"So, not surprisingly, doctors don’t know a lot about these diseases or the underlying conditions,\" says Rockson. \"If you poll 100 physicians off the street, you might find one that knows the term lipedema, and that one might not have much to say about it other than a recognition of the name.\"\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>One of his patients, Judy Maggiore, hopes to someday benefit from his research. In the meantime, her daily lunch is a bowl filled with vegetables, and even though she usually skips dinner, the flab on her legs continues to thicken, causing chronic pain. She savors each bite slowly, in hopes of keeping fat cells at bay.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/244604/lipedema-the-fat-disorder-that-millions-have-but-no-one-has-heard-of","authors":["11229"],"categories":["futureofyou_452","futureofyou_1","futureofyou_73"],"tags":["futureofyou_156","futureofyou_1052","futureofyou_562"],"featImg":"futureofyou_244645","label":"source_futureofyou_244604"},"futureofyou_170565":{"type":"posts","id":"futureofyou_170565","meta":{"index":"posts_1591205157","site":"futureofyou","id":"170565","score":null,"sort":[1464729486000]},"guestAuthors":[],"slug":"amid-intense-isolation-stirrings-of-hope-for-families-with-rarest-genetic-mutations","title":"Stirrings of Hope for Families Isolated by Rarest of Genetic Conditions","publishDate":1464729486,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>Shortly after \u003ca href=\"http://milosjourney.com/\" target=\"_blank\">Milo Lorentzen\u003c/a> was born, nurses whisked him away to the neonatal intensive care unit for low blood sugar and jaundice. An exam then found a cluster of irregularities, including a cleft palate and a hole in his heart.\u003c/p>\n\u003cp>The staff called in a geneticist, who issued a misdiagnosis—the first frustrating episode in what would become years of testing, as Karen Park and Peter Lorentzen searched for a way to help their son.\u003c/p>\n\u003caside class=\"pullquote alignright\">'You're the 'other-other,' and not just the 'other.'\"\u003ccite>Karen Park, Milo's mother\u003c/cite>\u003c/aside>\n\u003cp>Five years later, Park and Lorentzen know Milo's significant developmental delays likely stem from a mutation in a gene called KDM1A. He didn't inherit that mutation from his parents; it's new in Milo. And because a mutation in that gene is so rare, little is known about it. There is no treatment.\u003c/p>\n\u003cp>If KDM1A is indeed the culprit, Milo has what’s known as a \u003ca href=\"http://www.ncbi.nlm.nih.gov/books/NBK132145/\" target=\"_blank\">Mendelian disorder\u003c/a>—a rare condition caused by a genetic mutation, typically in a single gene. There are some 7,000-8,000 known Mendelian conditions, but researchers have found the genetic cause for only half. The rest are identified as Mendelian because they are transmitted from parents to children in ways suggesting they are caused by single genes.\u003c/p>\n\u003cp>In some cases—and researchers say Milo's appears to be one of them—a new mutation reveals a new condition, previously unidentified.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>Families with an unidentified genetic illness are lost in an information desert, isolated by protocols that protect research until published, and by health privacy laws that prevent, for example, a genetics lab from connecting two families with the same mutation.\u003c/p>\n\u003cp>The journey of Milo Lorentzen reveals what \u003ca href=\"https://www.bcm.edu/people/view/christian-schaaf-m-d-ph-d/b251d11c-ffed-11e2-be68-080027880ca6\" target=\"_blank\">Dr. Christian Schaaf\u003c/a>, an assistant professor at \u003ca href=\"https://www.bcm.edu/\" target=\"_blank\">Baylor College of Medicine\u003c/a>, says are two major inadequacies in genetic medicine—the absence of support for families with undiagnosed illnesses, and the lack of a clearinghouse where families and researchers can find one another.\u003c/p>\n\u003cp>[contextly_sidebar id=\"y6fCjzsdBLr9bsR5jKAH3kyZ56BhiTeO\"]“We all worry about the correct diagnosis, and therapy, and management of the disease,” Schaaf says, “but we don’t think enough about the isolation these families feel, about the stress and anxiety that comes with these disorders.”\u003c/p>\n\u003cp>Recently, however, new and cheaper techniques in genetic testing and efforts to connect families to each other and to researchers offer promise of a future less desolate.\u003c/p>\n\u003cp>\"There are lots of researchers who might be interested in families with genetic conditions if they knew they existed,” says \u003ca href=\"http://depts.washington.edu/bamshad/\" target=\"_blank\">Dr. Michael Bamshad\u003c/a>, principle investigator of the \u003ca href=\"http://uwcmg.org/#/\" target=\"_blank\">University of Washington Center for Mendelian Genomics\u003c/a>.\u003c/p>\n\u003cp>Bamshad is cofounder of \u003ca href=\"https://www.mygene2.org/MyGene2/\">MyGene2\u003c/a>, a website where families, researchers, and clinicians can connect and share information at no cost. The site is a \u003ca href=\"https://www.openscienceprize.org/res/p/finalists/\">finalist\u003c/a> in a National Institutes of Health competition to make scientific information broadly available.\u003c/p>\n\u003cp>\u003cstrong>'You're the Other-Other'\u003c/strong>\u003c/p>\n\u003cp>When your child has an undiagnosed genetic disorder, one of life's hallmarks is a frustrating series of tests yielding no answers.\u003c/p>\n\u003cp>“The first several years of his life was test after test,” says Karen Park, Milo’s mother. “X-rays, MRIs, blood tests, skin biopsies.”\u003c/p>\n\u003cfigure id=\"attachment_174418\" class=\"wp-caption aligncenter\" style=\"max-width: 2048px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/milo-podd-school.jpg\">\u003cimg src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/milo-podd-school.jpg\" alt=\"Milo Lorentzen is learning to read and speak using an alternative language method that incorporates symbols and pictures. He now reads at or above grade level. “He was starting to have behavioral issues until we gave him this method,” says his mother, Karen Park. “Now Milo has a voice.” \" width=\"2048\" height=\"1536\" class=\"size-full wp-image-174418\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school.jpg 2048w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-400x300.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-800x600.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-768x576.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-1180x885.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-1920x1440.jpg 1920w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-960x720.jpg 960w\" sizes=\"(max-width: 2048px) 100vw, 2048px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Milo Lorentzen is learning to read and speak using an alternative language method that incorporates symbols and pictures. “He was starting to have behavioral issues until we gave him this method,” says his mother, Karen Park. “Now Milo has a voice.” \u003ccite>(Marissa Miller)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Milo had a range of symptoms: low muscle tone and a body that lacked strength, making him slow to lift his head or push up off his stomach; and delays in mimicking people and expressing himself. To his doctors, these symptoms suggested many possibilities.\u003c/p>\n\u003cp>“It takes forever; it’s very slow,” Park says. “And when things keep coming back negative, you feel like: My child is getting tortured; I’m not getting any insight out of this; I just feel like giving up.”\u003c/p>\n\u003cp>Many rare disorders affect at least enough families to constitute what Park calls a tribe: parent groups, coping tips, research tools, and fundraising walks.\u003c/p>\n\u003cp>But Milo’s parents were on their own.\u003c/p>\n\u003cp>Researchers know of only two other children in the world who have a genetic mutation similar to Milo’s. In fact, KDM1A is known to be resistant to evolutionary change; a mutation is so rare researchers hardly ever see it in any animal species.\u003c/p>\n\u003cp>“You’re the ‘other-other’ and not just the ‘other,’” Park says.\u003c/p>\n\u003cfigure id=\"attachment_174447\" class=\"wp-caption aligncenter\" style=\"max-width: 720px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg\">\u003cimg class=\"size-full wp-image-174447\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg\" alt=\"Tess Bigelow is six years old and funtions at an 18-month-old level. Recently she walked 100 meters in the Special Olympics.\" width=\"720\" height=\"753\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg 720w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-400x418.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-574x600.jpg 574w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-32x32.jpg 32w\" sizes=\"(max-width: 720px) 100vw, 720px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Tess Bigelow is six years old and funtions at an 18-month-old level. Recently she walked 100 meters in the Special Olympics. \u003ccite>(Bo Bigelow)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Bo Bigelow, whose daughter Tess is one of only 10 people in the world known to have a mutation in a gene called USP7, went five years before he knew there was anyone else with a similar mutation.\u003c/p>\n\u003cp>\"These days there are ribbons and awareness weeks for so many diseases,\" Bigelow says, \"but when yours is ultra-rare, you feel completely isolated. You feel like you’re never going to hear another person say, ‘Us too!’ And being connected to other families changes all that.\"\u003c/p>\n\u003cp>\u003cstrong>Pinpointing the Problem\u003c/strong>\u003c/p>\n\u003cp>In 2013, Milo's parents had his genes sequenced with a relatively new technique called exome sequencing, which streamlines the process by looking only at genes that code for proteins, and not all an individual's DNA. It was then they learned about Milo's gene mutation.\u003c/p>\n\u003cp>Still, mutations in KD1MA are so rare that just spotting it didn't give Milo's parents a diagnosis.\u003c/p>\n\u003cp>Why not?\u003c/p>\n\u003cp>“We don’t know what most of our genes do,” says geneticist Barry Starr.\u003c/p>\n\u003cfigure id=\"attachment_174450\" class=\"wp-caption alignright\" style=\"max-width: 250px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/DNA-1.jpg\">\u003cimg class=\"size-full wp-image-174450\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/DNA-1.jpg\" alt=\"Genes issue instructions to make proteins, which run the functions of our cells. Genes make up 1-2 percent of our DNA.\" width=\"250\" height=\"371\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Genes issue instructions to make proteins, which run the functions of our cells. Genes make up 1-2 percent of our DNA. \u003ccite>(National Institutes of Health)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Genes issue instructions to make proteins that run the functions of a cell. But discovering what any single gene mutation does is complicated.\u003c/p>\n\u003cp>You need to know how the mutation affects the proteins, and how the proteins related to the disease. You also want to know whether the mutation has appeared in other family members who have experienced symptoms.\u003c/p>\n\u003cp>“You’re playing all these games like a detective story,” says Starr, “trying to solve a mystery.”\u003c/p>\n\u003cp>One way to get a diagnosis is by looking at previous research.\u003c/p>\n\u003cp>Dr. Michael Bamshad once found a mutation in a gene called MYLPF in a boy who had no muscles in his foot. Bamshad found a mouse study in which researchers had made a deliberate mutation MYLPF, resulting in a complete lack of skeletal muscle in the rodent. That was enough evidence to conclude the MYLPF gene was involved in the boy's condition.\u003c/p>\n\u003cp>But sometimes there is no published research.\u003c/p>\n\u003cp>Bigelow says geneticists who told him of Tess' mutation didn’t know what the USP7 gene did.\u003c/p>\n\u003cp>“We know this is the gene, but we don’t know anything more than that,” says Bigelow.\u003c/p>\n\u003cp>\u003cstrong>Easing the Isolation\u003c/strong>\u003c/p>\n\u003cp>Bigelow put out a beacon to other families who might have the same mutation: \u003ca href=\"http://www.portlandrootsmedia.com/tess-genetic-mystery\" target=\"_blank\">a website\u003c/a> and social media posts. Remarkably, it took \u003ca href=\"http://ww2.kqed.org/futureofyou/2016/05/10/social-media-uncovers-rare-diagnosis-after-years-of-frustration/\" target=\"_blank\">less than a day\u003c/a> for a response. Researchers are now examining his daughter's case, and at their request Bigelow has used his website to find two more families with the same mutation.\u003c/p>\n\u003cp>But it's a lot slower for families and researchers to search through hundreds of websites and Facebook pages for common ground.\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/My-gene2.png\">\u003cimg class=\"aligncenter size-full wp-image-174459\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/My-gene2.png\" alt=\"My gene2\" width=\"627\" height=\"264\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/My-gene2.png 627w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/My-gene2-400x168.png 400w\" sizes=\"(max-width: 627px) 100vw, 627px\">\u003c/a>\u003c/p>\n\u003cp>Now Bigelow and Milo Lorentzen’s parents are registered on MyGene2, where roughly 130 families are seeking information on mutations in more than \u003ca href=\"https://www.mygene2.org/MyGene2/genes\" target=\"_blank\">100 genes\u003c/a>.\u003c/p>\n\u003cp>Bamshad envisions expanding that to tens of thousands of families.\u003c/p>\n\u003cp>\"Our major goal is gene discovery and facilitating clinical diagnosis,” he says. “Very quickly, we could identify hundreds of Mendelian conditions and help thousands of families get a diagnosis for rare diseases.”\u003c/p>\n\u003cp>The main stumbling block is money to pay for outreach, Bamshad says. Tens of thousands of exome sequences are siloed at individual labs and clinics around the country. Because of federal privacy laws, the only people who can share those are the families who had them commissioned.\u003c/p>\n\u003cp>“We see lots of families on Facebook who are searching for a diagnosis,” says geneticist \u003ca href=\"https://depts.washington.edu/genediv/directory/jchong\" target=\"_blank\">Jessica Chong\u003c/a>, MyGene2 cofounder. “It would take time to go search for them and message each one of them to say, ‘We can help you.’”\u003c/p>\n\u003cfigure id=\"attachment_174559\" class=\"wp-caption aligncenter\" style=\"max-width: 718px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg\">\u003cimg class=\"size-full wp-image-174559\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg\" alt=\"Tess Bigelow stomps it out on the track where she competed in the Special Olympics.\" width=\"718\" height=\"590\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg 718w, https://ww2.kqed.org/app/uploads/sites/13/2016/05/Tess-track-e1464741655230-400x329.jpg 400w\" sizes=\"(max-width: 718px) 100vw, 718px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Tess Bigelow stomps it out on the track where she\u003ca href=\"http://www.portlandrootsmedia.com/strongerpodcast/2016/5/4/68-special-is-an-understatement\" target=\"_blank\"> prepares to compete \u003c/a>in the Special Olympics. \u003ccite>(Bo Bigelow)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Dr. Christian Schaaf, who's working with Tess Bigelow's mutation, says it has typically taken 15-20 years from the time a disease gene has been discovered until the first patients enter clinical trials. He's hoping new sequencing tools and social outreach can shrink that to seven or eight years.\u003c/p>\n\u003cp>Milo's parents hope that new research will give them more answers. They found a U.S. lab that's agreed to grow cell lines from Milo's and his father's DNA, and another lab in Europe is looking to run studies using the gene-editing tool CRISPR.\u003c/p>\n\u003cp>If the labs can replicate Milo's mutation and study its effects, perhaps Karen Park and Peter Lorentzen will learn more about how the mutation leads to his disorder. From there, will some lab be willing to look at developing a treatment? They don't know.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\"It's all us flying blind and making it up as we go along,\" says Park.\u003c/p>\n\n","blocks":[],"excerpt":"New, cheaper techniques in genetic testing and a new web portal connecting families with researchers and clinicians offer promise of a future less desolate.","status":"publish","parent":0,"modified":1464995089,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":50,"wordCount":1676},"headData":{"title":"Stirrings of Hope for Families Isolated by Rarest of Genetic Conditions | KQED","description":"New, cheaper techniques in genetic testing and a new web portal connecting families with researchers and clinicians offer promise of a future less desolate.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"Stirrings of Hope for Families Isolated by Rarest of Genetic Conditions","datePublished":"2016-05-31T21:18:06.000Z","dateModified":"2016-06-03T23:04:49.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"170565 http://ww2.kqed.org/futureofyou/?p=170565","disqusUrl":"https://ww2.kqed.org/futureofyou/2016/05/31/amid-intense-isolation-stirrings-of-hope-for-families-with-rarest-genetic-mutations/","disqusTitle":"Stirrings of Hope for Families Isolated by Rarest of Genetic Conditions","source":"Big Ideas","path":"/futureofyou/170565/amid-intense-isolation-stirrings-of-hope-for-families-with-rarest-genetic-mutations","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>Shortly after \u003ca href=\"http://milosjourney.com/\" target=\"_blank\">Milo Lorentzen\u003c/a> was born, nurses whisked him away to the neonatal intensive care unit for low blood sugar and jaundice. An exam then found a cluster of irregularities, including a cleft palate and a hole in his heart.\u003c/p>\n\u003cp>The staff called in a geneticist, who issued a misdiagnosis—the first frustrating episode in what would become years of testing, as Karen Park and Peter Lorentzen searched for a way to help their son.\u003c/p>\n\u003caside class=\"pullquote alignright\">'You're the 'other-other,' and not just the 'other.'\"\u003ccite>Karen Park, Milo's mother\u003c/cite>\u003c/aside>\n\u003cp>Five years later, Park and Lorentzen know Milo's significant developmental delays likely stem from a mutation in a gene called KDM1A. He didn't inherit that mutation from his parents; it's new in Milo. And because a mutation in that gene is so rare, little is known about it. There is no treatment.\u003c/p>\n\u003cp>If KDM1A is indeed the culprit, Milo has what’s known as a \u003ca href=\"http://www.ncbi.nlm.nih.gov/books/NBK132145/\" target=\"_blank\">Mendelian disorder\u003c/a>—a rare condition caused by a genetic mutation, typically in a single gene. There are some 7,000-8,000 known Mendelian conditions, but researchers have found the genetic cause for only half. The rest are identified as Mendelian because they are transmitted from parents to children in ways suggesting they are caused by single genes.\u003c/p>\n\u003cp>In some cases—and researchers say Milo's appears to be one of them—a new mutation reveals a new condition, previously unidentified.\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>Families with an unidentified genetic illness are lost in an information desert, isolated by protocols that protect research until published, and by health privacy laws that prevent, for example, a genetics lab from connecting two families with the same mutation.\u003c/p>\n\u003cp>The journey of Milo Lorentzen reveals what \u003ca href=\"https://www.bcm.edu/people/view/christian-schaaf-m-d-ph-d/b251d11c-ffed-11e2-be68-080027880ca6\" target=\"_blank\">Dr. Christian Schaaf\u003c/a>, an assistant professor at \u003ca href=\"https://www.bcm.edu/\" target=\"_blank\">Baylor College of Medicine\u003c/a>, says are two major inadequacies in genetic medicine—the absence of support for families with undiagnosed illnesses, and the lack of a clearinghouse where families and researchers can find one another.\u003c/p>\n\u003cp>\u003c/p>\u003cp>\u003c/p>\u003cp>“We all worry about the correct diagnosis, and therapy, and management of the disease,” Schaaf says, “but we don’t think enough about the isolation these families feel, about the stress and anxiety that comes with these disorders.”\u003c/p>\n\u003cp>Recently, however, new and cheaper techniques in genetic testing and efforts to connect families to each other and to researchers offer promise of a future less desolate.\u003c/p>\n\u003cp>\"There are lots of researchers who might be interested in families with genetic conditions if they knew they existed,” says \u003ca href=\"http://depts.washington.edu/bamshad/\" target=\"_blank\">Dr. Michael Bamshad\u003c/a>, principle investigator of the \u003ca href=\"http://uwcmg.org/#/\" target=\"_blank\">University of Washington Center for Mendelian Genomics\u003c/a>.\u003c/p>\n\u003cp>Bamshad is cofounder of \u003ca href=\"https://www.mygene2.org/MyGene2/\">MyGene2\u003c/a>, a website where families, researchers, and clinicians can connect and share information at no cost. The site is a \u003ca href=\"https://www.openscienceprize.org/res/p/finalists/\">finalist\u003c/a> in a National Institutes of Health competition to make scientific information broadly available.\u003c/p>\n\u003cp>\u003cstrong>'You're the Other-Other'\u003c/strong>\u003c/p>\n\u003cp>When your child has an undiagnosed genetic disorder, one of life's hallmarks is a frustrating series of tests yielding no answers.\u003c/p>\n\u003cp>“The first several years of his life was test after test,” says Karen Park, Milo’s mother. “X-rays, MRIs, blood tests, skin biopsies.”\u003c/p>\n\u003cfigure id=\"attachment_174418\" class=\"wp-caption aligncenter\" style=\"max-width: 2048px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/milo-podd-school.jpg\">\u003cimg src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/milo-podd-school.jpg\" alt=\"Milo Lorentzen is learning to read and speak using an alternative language method that incorporates symbols and pictures. He now reads at or above grade level. “He was starting to have behavioral issues until we gave him this method,” says his mother, Karen Park. “Now Milo has a voice.” \" width=\"2048\" height=\"1536\" class=\"size-full wp-image-174418\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school.jpg 2048w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-400x300.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-800x600.jpg 800w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-768x576.jpg 768w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-1180x885.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-1920x1440.jpg 1920w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/milo-podd-school-960x720.jpg 960w\" sizes=\"(max-width: 2048px) 100vw, 2048px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Milo Lorentzen is learning to read and speak using an alternative language method that incorporates symbols and pictures. “He was starting to have behavioral issues until we gave him this method,” says his mother, Karen Park. “Now Milo has a voice.” \u003ccite>(Marissa Miller)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Milo had a range of symptoms: low muscle tone and a body that lacked strength, making him slow to lift his head or push up off his stomach; and delays in mimicking people and expressing himself. To his doctors, these symptoms suggested many possibilities.\u003c/p>\n\u003cp>“It takes forever; it’s very slow,” Park says. “And when things keep coming back negative, you feel like: My child is getting tortured; I’m not getting any insight out of this; I just feel like giving up.”\u003c/p>\n\u003cp>Many rare disorders affect at least enough families to constitute what Park calls a tribe: parent groups, coping tips, research tools, and fundraising walks.\u003c/p>\n\u003cp>But Milo’s parents were on their own.\u003c/p>\n\u003cp>Researchers know of only two other children in the world who have a genetic mutation similar to Milo’s. In fact, KDM1A is known to be resistant to evolutionary change; a mutation is so rare researchers hardly ever see it in any animal species.\u003c/p>\n\u003cp>“You’re the ‘other-other’ and not just the ‘other,’” Park says.\u003c/p>\n\u003cfigure id=\"attachment_174447\" class=\"wp-caption aligncenter\" style=\"max-width: 720px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg\">\u003cimg class=\"size-full wp-image-174447\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg\" alt=\"Tess Bigelow is six years old and funtions at an 18-month-old level. Recently she walked 100 meters in the Special Olympics.\" width=\"720\" height=\"753\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263.jpg 720w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-400x418.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-574x600.jpg 574w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/Tess-happy-e1464726348263-32x32.jpg 32w\" sizes=\"(max-width: 720px) 100vw, 720px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Tess Bigelow is six years old and funtions at an 18-month-old level. Recently she walked 100 meters in the Special Olympics. \u003ccite>(Bo Bigelow)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Bo Bigelow, whose daughter Tess is one of only 10 people in the world known to have a mutation in a gene called USP7, went five years before he knew there was anyone else with a similar mutation.\u003c/p>\n\u003cp>\"These days there are ribbons and awareness weeks for so many diseases,\" Bigelow says, \"but when yours is ultra-rare, you feel completely isolated. You feel like you’re never going to hear another person say, ‘Us too!’ And being connected to other families changes all that.\"\u003c/p>\n\u003cp>\u003cstrong>Pinpointing the Problem\u003c/strong>\u003c/p>\n\u003cp>In 2013, Milo's parents had his genes sequenced with a relatively new technique called exome sequencing, which streamlines the process by looking only at genes that code for proteins, and not all an individual's DNA. It was then they learned about Milo's gene mutation.\u003c/p>\n\u003cp>Still, mutations in KD1MA are so rare that just spotting it didn't give Milo's parents a diagnosis.\u003c/p>\n\u003cp>Why not?\u003c/p>\n\u003cp>“We don’t know what most of our genes do,” says geneticist Barry Starr.\u003c/p>\n\u003cfigure id=\"attachment_174450\" class=\"wp-caption alignright\" style=\"max-width: 250px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/DNA-1.jpg\">\u003cimg class=\"size-full wp-image-174450\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/DNA-1.jpg\" alt=\"Genes issue instructions to make proteins, which run the functions of our cells. Genes make up 1-2 percent of our DNA.\" width=\"250\" height=\"371\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Genes issue instructions to make proteins, which run the functions of our cells. Genes make up 1-2 percent of our DNA. \u003ccite>(National Institutes of Health)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Genes issue instructions to make proteins that run the functions of a cell. But discovering what any single gene mutation does is complicated.\u003c/p>\n\u003cp>You need to know how the mutation affects the proteins, and how the proteins related to the disease. You also want to know whether the mutation has appeared in other family members who have experienced symptoms.\u003c/p>\n\u003cp>“You’re playing all these games like a detective story,” says Starr, “trying to solve a mystery.”\u003c/p>\n\u003cp>One way to get a diagnosis is by looking at previous research.\u003c/p>\n\u003cp>Dr. Michael Bamshad once found a mutation in a gene called MYLPF in a boy who had no muscles in his foot. Bamshad found a mouse study in which researchers had made a deliberate mutation MYLPF, resulting in a complete lack of skeletal muscle in the rodent. That was enough evidence to conclude the MYLPF gene was involved in the boy's condition.\u003c/p>\n\u003cp>But sometimes there is no published research.\u003c/p>\n\u003cp>Bigelow says geneticists who told him of Tess' mutation didn’t know what the USP7 gene did.\u003c/p>\n\u003cp>“We know this is the gene, but we don’t know anything more than that,” says Bigelow.\u003c/p>\n\u003cp>\u003cstrong>Easing the Isolation\u003c/strong>\u003c/p>\n\u003cp>Bigelow put out a beacon to other families who might have the same mutation: \u003ca href=\"http://www.portlandrootsmedia.com/tess-genetic-mystery\" target=\"_blank\">a website\u003c/a> and social media posts. Remarkably, it took \u003ca href=\"http://ww2.kqed.org/futureofyou/2016/05/10/social-media-uncovers-rare-diagnosis-after-years-of-frustration/\" target=\"_blank\">less than a day\u003c/a> for a response. Researchers are now examining his daughter's case, and at their request Bigelow has used his website to find two more families with the same mutation.\u003c/p>\n\u003cp>But it's a lot slower for families and researchers to search through hundreds of websites and Facebook pages for common ground.\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/My-gene2.png\">\u003cimg class=\"aligncenter size-full wp-image-174459\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2017/05/My-gene2.png\" alt=\"My gene2\" width=\"627\" height=\"264\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2017/05/My-gene2.png 627w, https://ww2.kqed.org/app/uploads/sites/13/2017/05/My-gene2-400x168.png 400w\" sizes=\"(max-width: 627px) 100vw, 627px\">\u003c/a>\u003c/p>\n\u003cp>Now Bigelow and Milo Lorentzen’s parents are registered on MyGene2, where roughly 130 families are seeking information on mutations in more than \u003ca href=\"https://www.mygene2.org/MyGene2/genes\" target=\"_blank\">100 genes\u003c/a>.\u003c/p>\n\u003cp>Bamshad envisions expanding that to tens of thousands of families.\u003c/p>\n\u003cp>\"Our major goal is gene discovery and facilitating clinical diagnosis,” he says. “Very quickly, we could identify hundreds of Mendelian conditions and help thousands of families get a diagnosis for rare diseases.”\u003c/p>\n\u003cp>The main stumbling block is money to pay for outreach, Bamshad says. Tens of thousands of exome sequences are siloed at individual labs and clinics around the country. Because of federal privacy laws, the only people who can share those are the families who had them commissioned.\u003c/p>\n\u003cp>“We see lots of families on Facebook who are searching for a diagnosis,” says geneticist \u003ca href=\"https://depts.washington.edu/genediv/directory/jchong\" target=\"_blank\">Jessica Chong\u003c/a>, MyGene2 cofounder. “It would take time to go search for them and message each one of them to say, ‘We can help you.’”\u003c/p>\n\u003cfigure id=\"attachment_174559\" class=\"wp-caption aligncenter\" style=\"max-width: 718px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg\">\u003cimg class=\"size-full wp-image-174559\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg\" alt=\"Tess Bigelow stomps it out on the track where she competed in the Special Olympics.\" width=\"718\" height=\"590\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2016/05/Tess-track-e1464741655230.jpg 718w, https://ww2.kqed.org/app/uploads/sites/13/2016/05/Tess-track-e1464741655230-400x329.jpg 400w\" sizes=\"(max-width: 718px) 100vw, 718px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Tess Bigelow stomps it out on the track where she\u003ca href=\"http://www.portlandrootsmedia.com/strongerpodcast/2016/5/4/68-special-is-an-understatement\" target=\"_blank\"> prepares to compete \u003c/a>in the Special Olympics. \u003ccite>(Bo Bigelow)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Dr. Christian Schaaf, who's working with Tess Bigelow's mutation, says it has typically taken 15-20 years from the time a disease gene has been discovered until the first patients enter clinical trials. He's hoping new sequencing tools and social outreach can shrink that to seven or eight years.\u003c/p>\n\u003cp>Milo's parents hope that new research will give them more answers. They found a U.S. lab that's agreed to grow cell lines from Milo's and his father's DNA, and another lab in Europe is looking to run studies using the gene-editing tool CRISPR.\u003c/p>\n\u003cp>If the labs can replicate Milo's mutation and study its effects, perhaps Karen Park and Peter Lorentzen will learn more about how the mutation leads to his disorder. From there, will some lab be willing to look at developing a treatment? They don't know.\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>\"It's all us flying blind and making it up as we go along,\" says Park.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/170565/amid-intense-isolation-stirrings-of-hope-for-families-with-rarest-genetic-mutations","authors":["235"],"categories":["futureofyou_1","futureofyou_73"],"tags":["futureofyou_940","futureofyou_156","futureofyou_941","futureofyou_939","futureofyou_942"],"featImg":"futureofyou_174414","label":"source_futureofyou_170565"},"futureofyou_3544":{"type":"posts","id":"futureofyou_3544","meta":{"index":"posts_1591205157","site":"futureofyou","id":"3544","score":null,"sort":[1433265574000]},"guestAuthors":[],"slug":"you-have-a-dominant-trait-that-tends-to-cause-disease-should-you-tell-your-partner","title":"You Have a Dominant Trait that Tends to Cause Disease. Should you Tell Your Partner?","publishDate":1433265574,"format":"standard","headTitle":"Contributor | KQED Future of You | KQED Science","labelTerm":{"term":172,"site":"futureofyou"},"content":"\u003cp>\u003cem>Editors' Note: Over Memorial Day, we put out a call on Twitter and Facebook for readers to share their niggling questions about genetics using the hashtag #futureofyou. And boy, did we get some fantastic responses. Your questions ranged from wondering why \u003ca href=\"https://twitter.com/Element_Tim/status/603259672108359681\">spinach tasted like tinfoil \u003c/a>to the \u003ca href=\"https://twitter.com/hill_charlotte/status/601804082739695616\">potential of administering genetic tests to pregnant women and its possible harm\u003c/a>.\u003c/em>\u003c/p>\n\u003cp>\u003cem>We passed on these questions to Dr. Barry Starr, who writes regular columns for KQED about the ever-evolving field of genetics. He's selected three to tackle this week, but will return to some of your questions in upcoming posts. \u003ca href=\"http://ww2.kqed.org/futureofyou/2015/05/22/heres-your-chance-to-ask-our-geneticist-anything/\">More on Starr and our experiment here. \u003c/a>\u003c/em>\u003c/p>\n\u003cp>\u003cem>Over to you, Barry...\u003c/em>\u003c/p>\n\u003cp>\u003cstrong>Question 1: \"What's your responsibility as spouse if you know you've a dominant trait that tends to cause disease?\u003c/strong>\u003c/p>\n\u003cfigure id=\"attachment_3625\" class=\"wp-caption alignright\" style=\"max-width: 307px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/05/Couple400.jpg\">\u003cimg class=\" wp-image-3625\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/05/Couple400.jpg\" alt=\"How much should they reveal to each other about their personal genetics? (Pixabay)\" width=\"307\" height=\"230\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">How much should this couple reveal to each other about their personal genetics? \u003ccite>(Pixabay)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cstrong>Barry Starr: \u003c/strong>That's a very tricky\u003cstrong> \u003c/strong>question! This will be a big discussion going forward as we continue to gain more and more information about our genetic make-up.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>As I \u003ca href=\"http://ww2.kqed.org/futureofyou/2015/05/05/a-geneticists-take-on-cheaper-tests-for-breast-and-ovarian-cancer-risk/\">wrote recently\u003c/a>, a new genetic test makes it easier than ever to see if you are at a higher risk for breast cancer. There are also diseases like Huntington’s disease that are fatal but not until later in life. Each child of a person with the gene has a 50 percent chance of having it as well. Should you notify your spouse or spouse-to-be?\u003c/p>\n\u003cp>After digging around the Internet, I found a fascinating \u003ca href=\"http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3152490/pdf/nihms314687.pdf\">study \u003c/a>from 2011 on what people actually do with this information in dating situations. The study involved 64 people who have dominant conditions that could either affect them or their future children.\u003c/p>\n\u003cp>Some decided not to date at all to avoid the complication. Some opted to be straight with their partner, while others didn’t share the truth about their disease risk because they were afraid of rejection. Those who kept this information under wraps struggled with when and how to bring it up.\u003c/p>\n\u003cp>As a scientist, it's difficult for me to generalize about how people should act. So I turned to my colleague, \u003ca href=\"https://www.law.stanford.edu/profile/henry-t-greely\">Hank Greely\u003c/a>, the director of the Center for Law and the Biosciences at Stanford, for a more thorough explanation:\u003c/p>\n\u003cp>\"I don’t think you’ve got any legal responsibility unless you affirmatively misrepresented your status to your spouse and he or she relied on that misrepresentation in some way that caused harm,\" Greely told me.\u003c/p>\n\u003cp>To win a court case, Greely said there would likely need to be evidence that you didn't share the information. \"I think you might need a situation where the other spouse asked you something like, “So, your father has Huntington’s disease, which I’ve read puts you at 50 percent risk. Have you been tested?\" Even in a situation like this, Greely isn't sure what the damages would amount to.\u003c/p>\n\u003cp>Ethically, it's a different story. \"As an ethical matter, I think you need to reveal any serious health risks you’ve got to your partner before marriage, domestic partnership, or a decision to have kids together,\" he said.\u003c/p>\n\u003cp>\u003cem>\u003cstrong>Question #2: How can my parents and I be on the shorter side but my 2 younger brothers be 6 foot tall?\u003c/strong>\u003c/em>\u003c/p>\n\u003cfigure id=\"attachment_3756\" class=\"wp-caption alignright\" style=\"max-width: 345px\">\u003cimg class=\" wp-image-3756\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/06/carly-667x600.jpg\" alt=\"Carly Severn, who asked the question, with her mother and brothers \" width=\"345\" height=\"310\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2015/06/carly-667x600.jpg 667w, https://ww2.kqed.org/app/uploads/sites/13/2015/06/carly-400x360.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2015/06/carly-1180x1061.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2015/06/carly-960x863.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2015/06/carly.jpg 1306w\" sizes=\"(max-width: 345px) 100vw, 345px\">\u003cfigcaption class=\"wp-caption-text\">Carly Severn (who asked the question) with her mother and brothers \u003ccite>(Carly Severn )\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>That's a question I'm sure a lot of folks are wondering! Height is a surprisingly complex genetic trait. Your final height is the result of the combination of genes you get from your parents \u003cem>and\u003c/em> the environment.\u003c/p>\n\u003cp>Like lots of other complex traits, height is the result of many different genes working together. In the \u003ca href=\"http://www.reuters.com/article/2014/10/05/us-science-height-idUSKCN0HU0QI20141005\">most recent tally I could find\u003c/a>, scientists found 697 gene variants in 424 gene regions (with more sure to follow). Each of these contributes a bit towards your final height. This makes for a lot of possible combinations! So it could be that your parents have a mix of many variants that make them shorter and a few that make them taller. By chance you ended up with more of the “shorter” versions and your brothers more of the “taller” ones.\u003c/p>\n\u003cp>As it turns out, around 80 percent of height is hereditary and the rest is environmental. An example of this is the huge \u003ca href=\"http://www.nytimes.com/2001/02/01/world/tokyo-journal-the-japanese-it-seems-are-outgrowing-japan.html\">changes in the average height of the Japanese\u003c/a> since World War II. In the last 50 years, the average eleven year old in Japan has gained 5.5 inches. This is way too fast for genetics and is probably explained by better nutrition. Another possibility is that one or both of your parents are shorter than their DNA says because of poor nutrition growing up. They did not reach their height potential, but passed that potential on to your brothers. (You still got the short end of the genes.) \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist/ethnic-groups-and-height\">More on the genetics of height here.\u003c/a>\u003c/p>\n\u003cp>\u003cstrong>Question #3: How come I didn't have any red headed children? My husband has red hair, I have brown hair. Am I not a redhead gene carrier?\u003c/strong>\u003c/p>\n\u003cfigure id=\"attachment_3578\" class=\"wp-caption alignright\" style=\"max-width: 331px\">\u003cimg class=\" wp-image-3578\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/05/FiveBlondes.jpg\" alt='Some of these women may inherited \"red hair\" genes from both parents and still not have red hair. ' width=\"331\" height=\"210\">\u003cfigcaption class=\"wp-caption-text\">Some of these women may inherited \"red hair\" genes from both parents and still not have red hair. \u003ccite>(Wikimedia Commons)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Most of the time redheads have red hair because they got the necessary gene from both parents, a \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist/blood-type-parent-o-blood-type-child\">classic recessive trait\u003c/a>. Since your husband has red hair, we know he passed a red hair gene to his kids. Because red hair is usually recessive, most likely that is all he has to give.\u003c/p>\n\u003cp>If you do not have a red hair gene, then your kids obviously can’t get one from you. They will get one red from your husband and one not-red from you. They will all be carriers because of your husband.\u003c/p>\n\u003cp>They will not have red hair but can pass a gene for red hair down to their kids. If their partners also pass one down, you’ll have red-headed grandkids.\u003c/p>\n\u003cp>Another possibility has to do with simple statistics. In this case you \u003cem>are\u003c/em> a carrier but you just happened not to pass the red hair gene down to any of your kids. Each child of a carrier has a 50 percent chance of getting the “red hair” gene from that parent. This does not mean, however, that 50 percent of the carrier’s kids will get it. All the kids might get it or none of them.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>Note that red hair is also not a perfectly recessive trait. It is way more predictable than tongue rolling, ear lobe attachment, widow’s peak, hitchhiker thumb and so on, but there are still plenty of exceptions. A \u003ca href=\"http://hmg.oxfordjournals.org/content/16/18/2249.long\">study \u003c/a>from 2007 showed that a surprising number of people with two red hair genes do not have red hair. So it might be the case that your children did indeed get a red hair gene from you but still didn’t end up with red hair. \u003ca href=\"http://genetics.thetech.org/ask/ask44\">More on red hair genetics here\u003c/a>.\u003c/p>\n\n","blocks":[],"excerpt":"Dr. Barry Starr answers some tough questions about genetics -- all posed by KQED readers. ","status":"publish","parent":0,"modified":1477282261,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":24,"wordCount":1235},"headData":{"title":"You Have a Dominant Trait that Tends to Cause Disease. Should you Tell Your Partner? | KQED","description":"Dr. Barry Starr answers some tough questions about genetics -- all posed by KQED readers. ","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"You Have a Dominant Trait that Tends to Cause Disease. Should you Tell Your Partner?","datePublished":"2015-06-02T17:19:34.000Z","dateModified":"2016-10-24T04:11:01.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"3544 http://ww2.kqed.org/futureofyou/?p=3544","disqusUrl":"https://ww2.kqed.org/futureofyou/2015/06/02/you-have-a-dominant-trait-that-tends-to-cause-disease-should-you-tell-your-partner/","disqusTitle":"You Have a Dominant Trait that Tends to Cause Disease. Should you Tell Your Partner?","path":"/futureofyou/3544/you-have-a-dominant-trait-that-tends-to-cause-disease-should-you-tell-your-partner","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003cem>Editors' Note: Over Memorial Day, we put out a call on Twitter and Facebook for readers to share their niggling questions about genetics using the hashtag #futureofyou. And boy, did we get some fantastic responses. Your questions ranged from wondering why \u003ca href=\"https://twitter.com/Element_Tim/status/603259672108359681\">spinach tasted like tinfoil \u003c/a>to the \u003ca href=\"https://twitter.com/hill_charlotte/status/601804082739695616\">potential of administering genetic tests to pregnant women and its possible harm\u003c/a>.\u003c/em>\u003c/p>\n\u003cp>\u003cem>We passed on these questions to Dr. Barry Starr, who writes regular columns for KQED about the ever-evolving field of genetics. He's selected three to tackle this week, but will return to some of your questions in upcoming posts. \u003ca href=\"http://ww2.kqed.org/futureofyou/2015/05/22/heres-your-chance-to-ask-our-geneticist-anything/\">More on Starr and our experiment here. \u003c/a>\u003c/em>\u003c/p>\n\u003cp>\u003cem>Over to you, Barry...\u003c/em>\u003c/p>\n\u003cp>\u003cstrong>Question 1: \"What's your responsibility as spouse if you know you've a dominant trait that tends to cause disease?\u003c/strong>\u003c/p>\n\u003cfigure id=\"attachment_3625\" class=\"wp-caption alignright\" style=\"max-width: 307px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/05/Couple400.jpg\">\u003cimg class=\" wp-image-3625\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/05/Couple400.jpg\" alt=\"How much should they reveal to each other about their personal genetics? (Pixabay)\" width=\"307\" height=\"230\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">How much should this couple reveal to each other about their personal genetics? \u003ccite>(Pixabay)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>\u003cstrong>Barry Starr: \u003c/strong>That's a very tricky\u003cstrong> \u003c/strong>question! This will be a big discussion going forward as we continue to gain more and more information about our genetic make-up.\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 \u003ca href=\"http://ww2.kqed.org/futureofyou/2015/05/05/a-geneticists-take-on-cheaper-tests-for-breast-and-ovarian-cancer-risk/\">wrote recently\u003c/a>, a new genetic test makes it easier than ever to see if you are at a higher risk for breast cancer. There are also diseases like Huntington’s disease that are fatal but not until later in life. Each child of a person with the gene has a 50 percent chance of having it as well. Should you notify your spouse or spouse-to-be?\u003c/p>\n\u003cp>After digging around the Internet, I found a fascinating \u003ca href=\"http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3152490/pdf/nihms314687.pdf\">study \u003c/a>from 2011 on what people actually do with this information in dating situations. The study involved 64 people who have dominant conditions that could either affect them or their future children.\u003c/p>\n\u003cp>Some decided not to date at all to avoid the complication. Some opted to be straight with their partner, while others didn’t share the truth about their disease risk because they were afraid of rejection. Those who kept this information under wraps struggled with when and how to bring it up.\u003c/p>\n\u003cp>As a scientist, it's difficult for me to generalize about how people should act. So I turned to my colleague, \u003ca href=\"https://www.law.stanford.edu/profile/henry-t-greely\">Hank Greely\u003c/a>, the director of the Center for Law and the Biosciences at Stanford, for a more thorough explanation:\u003c/p>\n\u003cp>\"I don’t think you’ve got any legal responsibility unless you affirmatively misrepresented your status to your spouse and he or she relied on that misrepresentation in some way that caused harm,\" Greely told me.\u003c/p>\n\u003cp>To win a court case, Greely said there would likely need to be evidence that you didn't share the information. \"I think you might need a situation where the other spouse asked you something like, “So, your father has Huntington’s disease, which I’ve read puts you at 50 percent risk. Have you been tested?\" Even in a situation like this, Greely isn't sure what the damages would amount to.\u003c/p>\n\u003cp>Ethically, it's a different story. \"As an ethical matter, I think you need to reveal any serious health risks you’ve got to your partner before marriage, domestic partnership, or a decision to have kids together,\" he said.\u003c/p>\n\u003cp>\u003cem>\u003cstrong>Question #2: How can my parents and I be on the shorter side but my 2 younger brothers be 6 foot tall?\u003c/strong>\u003c/em>\u003c/p>\n\u003cfigure id=\"attachment_3756\" class=\"wp-caption alignright\" style=\"max-width: 345px\">\u003cimg class=\" wp-image-3756\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/06/carly-667x600.jpg\" alt=\"Carly Severn, who asked the question, with her mother and brothers \" width=\"345\" height=\"310\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2015/06/carly-667x600.jpg 667w, https://ww2.kqed.org/app/uploads/sites/13/2015/06/carly-400x360.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2015/06/carly-1180x1061.jpg 1180w, https://ww2.kqed.org/app/uploads/sites/13/2015/06/carly-960x863.jpg 960w, https://ww2.kqed.org/app/uploads/sites/13/2015/06/carly.jpg 1306w\" sizes=\"(max-width: 345px) 100vw, 345px\">\u003cfigcaption class=\"wp-caption-text\">Carly Severn (who asked the question) with her mother and brothers \u003ccite>(Carly Severn )\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>That's a question I'm sure a lot of folks are wondering! Height is a surprisingly complex genetic trait. Your final height is the result of the combination of genes you get from your parents \u003cem>and\u003c/em> the environment.\u003c/p>\n\u003cp>Like lots of other complex traits, height is the result of many different genes working together. In the \u003ca href=\"http://www.reuters.com/article/2014/10/05/us-science-height-idUSKCN0HU0QI20141005\">most recent tally I could find\u003c/a>, scientists found 697 gene variants in 424 gene regions (with more sure to follow). Each of these contributes a bit towards your final height. This makes for a lot of possible combinations! So it could be that your parents have a mix of many variants that make them shorter and a few that make them taller. By chance you ended up with more of the “shorter” versions and your brothers more of the “taller” ones.\u003c/p>\n\u003cp>As it turns out, around 80 percent of height is hereditary and the rest is environmental. An example of this is the huge \u003ca href=\"http://www.nytimes.com/2001/02/01/world/tokyo-journal-the-japanese-it-seems-are-outgrowing-japan.html\">changes in the average height of the Japanese\u003c/a> since World War II. In the last 50 years, the average eleven year old in Japan has gained 5.5 inches. This is way too fast for genetics and is probably explained by better nutrition. Another possibility is that one or both of your parents are shorter than their DNA says because of poor nutrition growing up. They did not reach their height potential, but passed that potential on to your brothers. (You still got the short end of the genes.) \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist/ethnic-groups-and-height\">More on the genetics of height here.\u003c/a>\u003c/p>\n\u003cp>\u003cstrong>Question #3: How come I didn't have any red headed children? My husband has red hair, I have brown hair. Am I not a redhead gene carrier?\u003c/strong>\u003c/p>\n\u003cfigure id=\"attachment_3578\" class=\"wp-caption alignright\" style=\"max-width: 331px\">\u003cimg class=\" wp-image-3578\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/05/FiveBlondes.jpg\" alt='Some of these women may inherited \"red hair\" genes from both parents and still not have red hair. ' width=\"331\" height=\"210\">\u003cfigcaption class=\"wp-caption-text\">Some of these women may inherited \"red hair\" genes from both parents and still not have red hair. \u003ccite>(Wikimedia Commons)\u003c/cite>\u003c/figcaption>\u003c/figure>\n\u003cp>Most of the time redheads have red hair because they got the necessary gene from both parents, a \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist/blood-type-parent-o-blood-type-child\">classic recessive trait\u003c/a>. Since your husband has red hair, we know he passed a red hair gene to his kids. Because red hair is usually recessive, most likely that is all he has to give.\u003c/p>\n\u003cp>If you do not have a red hair gene, then your kids obviously can’t get one from you. They will get one red from your husband and one not-red from you. They will all be carriers because of your husband.\u003c/p>\n\u003cp>They will not have red hair but can pass a gene for red hair down to their kids. If their partners also pass one down, you’ll have red-headed grandkids.\u003c/p>\n\u003cp>Another possibility has to do with simple statistics. In this case you \u003cem>are\u003c/em> a carrier but you just happened not to pass the red hair gene down to any of your kids. Each child of a carrier has a 50 percent chance of getting the “red hair” gene from that parent. This does not mean, however, that 50 percent of the carrier’s kids will get it. All the kids might get it or none of them.\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>Note that red hair is also not a perfectly recessive trait. It is way more predictable than tongue rolling, ear lobe attachment, widow’s peak, hitchhiker thumb and so on, but there are still plenty of exceptions. A \u003ca href=\"http://hmg.oxfordjournals.org/content/16/18/2249.long\">study \u003c/a>from 2007 showed that a surprising number of people with two red hair genes do not have red hair. So it might be the case that your children did indeed get a red hair gene from you but still didn’t end up with red hair. \u003ca href=\"http://genetics.thetech.org/ask/ask44\">More on red hair genetics here\u003c/a>.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/3544/you-have-a-dominant-trait-that-tends-to-cause-disease-should-you-tell-your-partner","authors":["6177"],"series":["futureofyou_172"],"categories":["futureofyou_1064"],"tags":["futureofyou_361","futureofyou_402","futureofyou_396","futureofyou_138","futureofyou_156","futureofyou_266","futureofyou_270","futureofyou_80","futureofyou_363"],"featImg":"futureofyou_3768","label":"futureofyou_172"},"futureofyou_1168":{"type":"posts","id":"futureofyou_1168","meta":{"index":"posts_1591205157","site":"futureofyou","id":"1168","score":null,"sort":[1428531589000]},"guestAuthors":[],"slug":"we-must-be-very-careful-with-human-genetic-engineering","title":"We Must Be Very Careful With Human Genetic Engineering","publishDate":1428531589,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{"site":"futureofyou"},"content":"\u003cp>\u003cem>Our geneticist, Dr. Barry Starr, weighs in on the current debate surrounding the latest gene-editing technique.\u003cbr>\n\u003c/em>\u003c/p>\n\u003cp>Ever since we've been able to alter DNA, there have been discussions about what this means for the human race. In some far off future, when we can make wholesale changes to human DNA, what will these changes do to each of us? And to society at large?\u003c/p>\n\u003cp>It turns out that the far off future isn’t so far off any more. With a new tool called \u003ca href=\"http://ww2.kqed.org/futureofyou/2015/03/16/a-crispr-solution-to-bubble-boy-disease/\">CRISPR\u003c/a>, we are on the cusp of being able to easily change the DNA of a human embryo so the changes can be passed on to the next generation. We are so close in fact, that \u003ca href=\"http://www.nytimes.com/2015/03/20/science/biologists-call-for-halt-to-gene-editing-technique-in-humans.html?_r=1\">a group of scientists has advocated\u003c/a> that we stop and take a deep breath before we add any altered DNA to our gene pool.\u003c/p>\n\u003cp>[contextly_sidebar id=\"fDeS00Xmf7YhCIeT7x2jMeDL6uMua8Gz\"]\u003c/p>\n\u003cp>Part of the reason for this pause is because the technique has not been widely tested yet. It has only been around for a few years and so we definitely need to spend some time studying it. For example, what other changes happen elsewhere in the DNA when we make the selected change? How can we make sure any changes we make are in all of the cells not just some of them? These are just two of the potential questions for which we don’t yet have good answers.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>Despite issues like these, there is a real temptation to just barrel ahead and start using CRISPR to cure genetic diseases because it is such a powerful and easy technique. We need to resist that temptation until these technical issues have been resolved.\u003c/p>\n\u003cp>But even with a resolution, other problems will arise. Like the ethical concern over whether we should be tampering with human DNA at all. I leave the bioethicists to debate that one.\u003c/p>\n\u003cfigure id=\"attachment_1238\" class=\"wp-caption alignright\" style=\"max-width: 400px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/EugenicsPlaque.jpg\">\u003cimg class=\"size-full wp-image-1238\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/EugenicsPlaque.jpg\" alt=\"Some genetic engineering decisions are obviously bad ones. (Wikimedia Commons) \" width=\"400\" height=\"300\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2015/04/EugenicsPlaque.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2015/04/EugenicsPlaque-320x240.jpg 320w\" sizes=\"(max-width: 400px) 100vw, 400px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Some genetic engineering decisions are obviously bad ones. (\u003ca href=\"http://upload.wikimedia.org/wikipedia/commons/c/c4/EugenicsMarker.jpg\">Wikimedia Commons\u003c/a>)\u003c/figcaption>\u003c/figure>\n\u003cp>Assuming the safety problem has been resolved and we decide, as a society, that changing human DNA is sometimes acceptable, the next issue will be what DNA to change. This is a more difficult discussion than you may think.\u003c/p>\n\u003cp>To me, a few changes are pretty obvious. If we can safely do it, we should change the DNA of an embryo that would die a terrible death after birth. For example, fixing a DNA difference in the HEXA gene that leads to \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024672/\">Tay Sachs\u003c/a>--a genetic disorder that is fatal--seems like an obvious choice.\u003c/p>\n\u003cp>And of course at the other end of the spectrum there are changes that make most people squeamish. Examples of these might be changing an embryo’s DNA so he grows up to have blue eyes or red hair or some other physical trait. This smacks of \u003ca href=\"http://en.wikipedia.org/wiki/Eugenics\">eugenics\u003c/a> and rightly makes people uncomfortable.\u003c/p>\n\u003cp>But there are a whole lot of DNA edits in between these that are much less obvious. And some, like \u003ca href=\"http://ghr.nlm.nih.gov/condition/huntington-disease\">Huntington’s disease\u003c/a>, seem like Tay Sachs but if done incorrectly could have unexpected consequences.\u003c/p>\n\u003cp>\u003cstrong>Beware of Unknown Unknowns\u003c/strong>\u003c/p>\n\u003cp>Huntington’s disease (HD) is a really awful genetic disease (click \u003ca href=\"https://youtu.be/JzAPh2v-SCQ\">here\u003c/a> to see what it looks like in the later stages). It initially causes subtle personality changes, usually when a person is in his or her 30’s or 40’s. After that there is an inevitable decline in muscle control and a descent into various psychiatric disorders and dementia. Usually someone with HD is dead within 20 years of their first symptoms although it can happen much more rapidly in some cases.\u003c/p>\n\u003cp>We have a very good understanding of how HD works genetically. Certain changes in the HTT gene lead to the disease. But these changes are different than you might think.\u003c/p>\n\u003cp>Here is an image of the three categories of HTT genes you can have:\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/HTTgene.jpg\">\u003cimg class=\"aligncenter size-full wp-image-1229\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/HTTgene.jpg\" alt=\"HTTgene\" width=\"500\" height=\"162\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2015/04/HTTgene.jpg 500w, https://ww2.kqed.org/app/uploads/sites/13/2015/04/HTTgene-400x130.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2015/04/HTTgene-320x104.jpg 320w\" sizes=\"(max-width: 500px) 100vw, 500px\">\u003c/a>\u003c/p>\n\u003cp>In this image, the blue rectangle is the HTT gene. The green, yellow and red boxes represent something in the gene called \u003ca href=\"http://en.wikipedia.org/wiki/Trinucleotide_repeat_expansion\">CAG repeats\u003c/a>. Basically, the DNA letters CAG are repeated the number of times listed in the box. So the green box has 10-35 repeats, the yellow has 36-39 and the red has 40 or more.\u003c/p>\n\u003cp>As you can see, only people with more than 35 of these repeats are at risk for HD. People with 36-39 repeats may or may not get the disease and most everyone with 40 or more ends up with HD.\u003c/p>\n\u003cp>So an obvious use of CRISPR would be to edit the HTT gene of embryos like this:\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/httCRISPR.jpg\">\u003cimg class=\"aligncenter size-full wp-image-1231\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/httCRISPR.jpg\" alt=\"httCRISPR\" width=\"300\" height=\"133\">\u003c/a>\u003c/p>\n\u003cp>Now this embryo won't develop HD. And because we reduced the number down to 10, his kids and grandkids probably won't be at risk for HD either because they are safe from something called anticipation.\u003c/p>\n\u003cp>In anticipation, the number of repeats can increase from one generation to the next. So someone with 34 repeats might have a child with 40 or more which means that child will probably develop the disease. Lowering the repeats to 10 makes it much less likely any future kids will get HD. But it might also decrease the chances of the child being a genius.\u003c/p>\n\u003cp>Recent research reviewed \u003ca href=\"http://www.economist.com/news/science-and-technology/21645713-could-key-evolution-human-brain-be-found-dreadful\">here \u003c/a>suggests that the more repeats you have, the more likely you are to do well on tests that are supposed to gauge intelligence. In protecting future generations from the risk of HD, we may be toying with their intelligence.\u003c/p>\n\u003cp>The reverse of this situation is even worse. Imagine we first discovered that extra repeats make it more likely someone will be clever. Now parents are adding repeats to their kids’ HTT genes with the end result that most of that generation comes down with HD!\u003c/p>\n\u003cp>This isn’t the only case like this either. As discussed \u003ca href=\"http://www.councilforresponsiblegenetics.org/GeneWatch/GeneWatchPage.aspx?pageId=226\">here\u003c/a>, studies showed that a certain version of the SERT gene leads to an increased risk of depression. With CRISPR you might be tempted to correct this gene. Which may be a mistake.\u003c/p>\n\u003cp>Later studies showed that this version of SERT is only an issue if the child is raised in poor conditions. Under the right conditions, this gene version actually increases the chances a person will be creative. Editing this gene might have consequences no one expected.\u003c/p>\n\u003cp>If the second set of studies had never been done, we wouldn’t know about the positive effects of this DNA difference. We would simply have fewer creative people in humanity’s future.\u003c/p>\n\u003cp>These are just a couple of the genes we know about. There are many others where we may not yet know the effects of genetic engineering.\u003c/p>\n\u003cp>\u003cstrong>To Edit or Not to Edit\u003c/strong>\u003c/p>\n\u003cfigure id=\"attachment_1249\" class=\"wp-caption alignright\" style=\"max-width: 300px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/SCAfoy.jpg\">\u003cimg class=\"size-full wp-image-1249\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/SCAfoy.jpg\" alt=\"If we decide that changing human DNA is acceptable, then sickle cell anemia is an obvious candidate. (NHGRI)\" width=\"300\" height=\"179\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">If we decide that changing human DNA is acceptable, then sickle cell anemia is an obvious candidate. (\u003ca href=\"https://www.genome.gov/dmd/img.cfm?node=Photos/Graphics&id=85241\">NHGRI\u003c/a>)\u003c/figcaption>\u003c/figure>\n\u003cp>None of this necessarily means we should never change human DNA. Some genetic diseases like sickle cell anemia or cystic fibrosis \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist/heterozygote-advantage\">served a useful role in the past\u003c/a> but are now just terrible, terrible diseases. It is hard to think of the downside of eliminating these DNA differences from the gene pool.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>The bottom line is that if we decide it is OK to repair genetic problems in a way that can be passed down to the next generation, we need to be very careful and selective about which problems we fix. And in how many people we fix them in.\u003c/p>\n\n","blocks":[],"excerpt":"Just because scientists now have the ability to cure genetic diseases, with a new gene-editing technique, doesn't mean we always should, writes our geneticist, Dr. Barry Starr. ","status":"publish","parent":0,"modified":1436315592,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":33,"wordCount":1253},"headData":{"title":"We Must Be Very Careful With Human Genetic Engineering | KQED","description":"Just because scientists now have the ability to cure genetic diseases, with a new gene-editing technique, doesn't mean we always should, writes our geneticist, Dr. Barry Starr. ","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":"","schema":{"@context":"http://schema.org","@type":"Article","headline":"We Must Be Very Careful With Human Genetic Engineering","datePublished":"2015-04-08T22:19:49.000Z","dateModified":"2015-07-08T00:33:12.000Z","image":"https://cdn.kqed.org/wp-content/uploads/2020/02/KQED-OG-Image@1x.png"}},"disqusIdentifier":"1168 http://ww2.kqed.org/futureofyou/?p=1168","disqusUrl":"https://ww2.kqed.org/futureofyou/2015/04/08/we-must-be-very-careful-with-human-genetic-engineering/","disqusTitle":"We Must Be Very Careful With Human Genetic Engineering","path":"/futureofyou/1168/we-must-be-very-careful-with-human-genetic-engineering","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003cem>Our geneticist, Dr. Barry Starr, weighs in on the current debate surrounding the latest gene-editing technique.\u003cbr>\n\u003c/em>\u003c/p>\n\u003cp>Ever since we've been able to alter DNA, there have been discussions about what this means for the human race. In some far off future, when we can make wholesale changes to human DNA, what will these changes do to each of us? And to society at large?\u003c/p>\n\u003cp>It turns out that the far off future isn’t so far off any more. With a new tool called \u003ca href=\"http://ww2.kqed.org/futureofyou/2015/03/16/a-crispr-solution-to-bubble-boy-disease/\">CRISPR\u003c/a>, we are on the cusp of being able to easily change the DNA of a human embryo so the changes can be passed on to the next generation. We are so close in fact, that \u003ca href=\"http://www.nytimes.com/2015/03/20/science/biologists-call-for-halt-to-gene-editing-technique-in-humans.html?_r=1\">a group of scientists has advocated\u003c/a> that we stop and take a deep breath before we add any altered DNA to our gene pool.\u003c/p>\n\u003cp>\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>Part of the reason for this pause is because the technique has not been widely tested yet. It has only been around for a few years and so we definitely need to spend some time studying it. For example, what other changes happen elsewhere in the DNA when we make the selected change? How can we make sure any changes we make are in all of the cells not just some of them? These are just two of the potential questions for which we don’t yet have good answers.\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>Despite issues like these, there is a real temptation to just barrel ahead and start using CRISPR to cure genetic diseases because it is such a powerful and easy technique. We need to resist that temptation until these technical issues have been resolved.\u003c/p>\n\u003cp>But even with a resolution, other problems will arise. Like the ethical concern over whether we should be tampering with human DNA at all. I leave the bioethicists to debate that one.\u003c/p>\n\u003cfigure id=\"attachment_1238\" class=\"wp-caption alignright\" style=\"max-width: 400px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/EugenicsPlaque.jpg\">\u003cimg class=\"size-full wp-image-1238\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/EugenicsPlaque.jpg\" alt=\"Some genetic engineering decisions are obviously bad ones. (Wikimedia Commons) \" width=\"400\" height=\"300\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2015/04/EugenicsPlaque.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2015/04/EugenicsPlaque-320x240.jpg 320w\" sizes=\"(max-width: 400px) 100vw, 400px\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">Some genetic engineering decisions are obviously bad ones. (\u003ca href=\"http://upload.wikimedia.org/wikipedia/commons/c/c4/EugenicsMarker.jpg\">Wikimedia Commons\u003c/a>)\u003c/figcaption>\u003c/figure>\n\u003cp>Assuming the safety problem has been resolved and we decide, as a society, that changing human DNA is sometimes acceptable, the next issue will be what DNA to change. This is a more difficult discussion than you may think.\u003c/p>\n\u003cp>To me, a few changes are pretty obvious. If we can safely do it, we should change the DNA of an embryo that would die a terrible death after birth. For example, fixing a DNA difference in the HEXA gene that leads to \u003ca href=\"http://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024672/\">Tay Sachs\u003c/a>--a genetic disorder that is fatal--seems like an obvious choice.\u003c/p>\n\u003cp>And of course at the other end of the spectrum there are changes that make most people squeamish. Examples of these might be changing an embryo’s DNA so he grows up to have blue eyes or red hair or some other physical trait. This smacks of \u003ca href=\"http://en.wikipedia.org/wiki/Eugenics\">eugenics\u003c/a> and rightly makes people uncomfortable.\u003c/p>\n\u003cp>But there are a whole lot of DNA edits in between these that are much less obvious. And some, like \u003ca href=\"http://ghr.nlm.nih.gov/condition/huntington-disease\">Huntington’s disease\u003c/a>, seem like Tay Sachs but if done incorrectly could have unexpected consequences.\u003c/p>\n\u003cp>\u003cstrong>Beware of Unknown Unknowns\u003c/strong>\u003c/p>\n\u003cp>Huntington’s disease (HD) is a really awful genetic disease (click \u003ca href=\"https://youtu.be/JzAPh2v-SCQ\">here\u003c/a> to see what it looks like in the later stages). It initially causes subtle personality changes, usually when a person is in his or her 30’s or 40’s. After that there is an inevitable decline in muscle control and a descent into various psychiatric disorders and dementia. Usually someone with HD is dead within 20 years of their first symptoms although it can happen much more rapidly in some cases.\u003c/p>\n\u003cp>We have a very good understanding of how HD works genetically. Certain changes in the HTT gene lead to the disease. But these changes are different than you might think.\u003c/p>\n\u003cp>Here is an image of the three categories of HTT genes you can have:\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/HTTgene.jpg\">\u003cimg class=\"aligncenter size-full wp-image-1229\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/HTTgene.jpg\" alt=\"HTTgene\" width=\"500\" height=\"162\" srcset=\"https://ww2.kqed.org/app/uploads/sites/13/2015/04/HTTgene.jpg 500w, https://ww2.kqed.org/app/uploads/sites/13/2015/04/HTTgene-400x130.jpg 400w, https://ww2.kqed.org/app/uploads/sites/13/2015/04/HTTgene-320x104.jpg 320w\" sizes=\"(max-width: 500px) 100vw, 500px\">\u003c/a>\u003c/p>\n\u003cp>In this image, the blue rectangle is the HTT gene. The green, yellow and red boxes represent something in the gene called \u003ca href=\"http://en.wikipedia.org/wiki/Trinucleotide_repeat_expansion\">CAG repeats\u003c/a>. Basically, the DNA letters CAG are repeated the number of times listed in the box. So the green box has 10-35 repeats, the yellow has 36-39 and the red has 40 or more.\u003c/p>\n\u003cp>As you can see, only people with more than 35 of these repeats are at risk for HD. People with 36-39 repeats may or may not get the disease and most everyone with 40 or more ends up with HD.\u003c/p>\n\u003cp>So an obvious use of CRISPR would be to edit the HTT gene of embryos like this:\u003c/p>\n\u003cp>\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/httCRISPR.jpg\">\u003cimg class=\"aligncenter size-full wp-image-1231\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/httCRISPR.jpg\" alt=\"httCRISPR\" width=\"300\" height=\"133\">\u003c/a>\u003c/p>\n\u003cp>Now this embryo won't develop HD. And because we reduced the number down to 10, his kids and grandkids probably won't be at risk for HD either because they are safe from something called anticipation.\u003c/p>\n\u003cp>In anticipation, the number of repeats can increase from one generation to the next. So someone with 34 repeats might have a child with 40 or more which means that child will probably develop the disease. Lowering the repeats to 10 makes it much less likely any future kids will get HD. But it might also decrease the chances of the child being a genius.\u003c/p>\n\u003cp>Recent research reviewed \u003ca href=\"http://www.economist.com/news/science-and-technology/21645713-could-key-evolution-human-brain-be-found-dreadful\">here \u003c/a>suggests that the more repeats you have, the more likely you are to do well on tests that are supposed to gauge intelligence. In protecting future generations from the risk of HD, we may be toying with their intelligence.\u003c/p>\n\u003cp>The reverse of this situation is even worse. Imagine we first discovered that extra repeats make it more likely someone will be clever. Now parents are adding repeats to their kids’ HTT genes with the end result that most of that generation comes down with HD!\u003c/p>\n\u003cp>This isn’t the only case like this either. As discussed \u003ca href=\"http://www.councilforresponsiblegenetics.org/GeneWatch/GeneWatchPage.aspx?pageId=226\">here\u003c/a>, studies showed that a certain version of the SERT gene leads to an increased risk of depression. With CRISPR you might be tempted to correct this gene. Which may be a mistake.\u003c/p>\n\u003cp>Later studies showed that this version of SERT is only an issue if the child is raised in poor conditions. Under the right conditions, this gene version actually increases the chances a person will be creative. Editing this gene might have consequences no one expected.\u003c/p>\n\u003cp>If the second set of studies had never been done, we wouldn’t know about the positive effects of this DNA difference. We would simply have fewer creative people in humanity’s future.\u003c/p>\n\u003cp>These are just a couple of the genes we know about. There are many others where we may not yet know the effects of genetic engineering.\u003c/p>\n\u003cp>\u003cstrong>To Edit or Not to Edit\u003c/strong>\u003c/p>\n\u003cfigure id=\"attachment_1249\" class=\"wp-caption alignright\" style=\"max-width: 300px\">\u003ca href=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/SCAfoy.jpg\">\u003cimg class=\"size-full wp-image-1249\" src=\"http://ww2.kqed.org/futureofyou/wp-content/uploads/sites/13/2015/04/SCAfoy.jpg\" alt=\"If we decide that changing human DNA is acceptable, then sickle cell anemia is an obvious candidate. (NHGRI)\" width=\"300\" height=\"179\">\u003c/a>\u003cfigcaption class=\"wp-caption-text\">If we decide that changing human DNA is acceptable, then sickle cell anemia is an obvious candidate. (\u003ca href=\"https://www.genome.gov/dmd/img.cfm?node=Photos/Graphics&id=85241\">NHGRI\u003c/a>)\u003c/figcaption>\u003c/figure>\n\u003cp>None of this necessarily means we should never change human DNA. Some genetic diseases like sickle cell anemia or cystic fibrosis \u003ca href=\"http://genetics.thetech.org/ask-a-geneticist/heterozygote-advantage\">served a useful role in the past\u003c/a> but are now just terrible, terrible diseases. It is hard to think of the downside of eliminating these DNA differences from the gene pool.\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>The bottom line is that if we decide it is OK to repair genetic problems in a way that can be passed down to the next generation, we need to be very careful and selective about which problems we fix. And in how many people we fix them in.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/1168/we-must-be-very-careful-with-human-genetic-engineering","authors":["6177"],"categories":["futureofyou_1","futureofyou_73"],"tags":["futureofyou_94","futureofyou_156","futureofyou_155","futureofyou_80"],"featImg":"futureofyou_1194","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. Possible paints an optimistic portrait of the world we can create through science, policy, business, art and our shared humanity. It asks: What if everything goes right for once? How can we get there? Each episode also includes a short fiction story generated by advanced AI GPT-4, serving as a thought-provoking springboard to speculate how humanity could leverage technology for good.","airtime":"SUN 2pm","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Possible-Podcast-Tile-360x360-1.jpg","officialWebsiteLink":"https://www.possible.fm/","meta":{"site":"news","source":"Possible"},"link":"/radio/program/possible","subscribe":{"apple":"https://podcasts.apple.com/us/podcast/possible/id1677184070","spotify":"https://open.spotify.com/show/730YpdUSNlMyPQwNnyjp4k"}},"1a":{"id":"1a","title":"1A","info":"1A is home to the national conversation. 1A brings on great guests and frames the best debate in ways that make you think, share and engage.","airtime":"MON-THU 11pm-12am","imageSrc":"https://ww2.kqed.org/radio/wp-content/uploads/sites/50/2018/04/1a.jpg","officialWebsiteLink":"https://the1a.org/","meta":{"site":"news","source":"npr"},"link":"/radio/program/1a","subscribe":{"npr":"https://rpb3r.app.goo.gl/RBrW","apple":"https://itunes.apple.com/WebObjects/MZStore.woa/wa/viewPodcast?s=143441&mt=2&id=1188724250&at=11l79Y&ct=nprdirectory","tuneIn":"https://tunein.com/radio/1A-p947376/","rss":"https://feeds.npr.org/510316/podcast.xml"}},"all-things-considered":{"id":"all-things-considered","title":"All Things Considered","info":"Every weekday, \u003cem>All Things Considered\u003c/em> hosts Robert Siegel, Audie Cornish, Ari Shapiro, and Kelly McEvers present the program's trademark mix of news, interviews, commentaries, reviews, and offbeat features. 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But is this once sleepy suburb ready for them?","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/American-Suburb-Podcast-Tile-703x703-1.jpg","officialWebsiteLink":"/news/series/american-suburb-podcast","meta":{"site":"news","source":"kqed","order":"13"},"link":"/news/series/american-suburb-podcast/","subscribe":{"npr":"https://rpb3r.app.goo.gl/RBrW","apple":"https://itunes.apple.com/WebObjects/MZStore.woa/wa/viewPodcast?mt=2&id=1287748328","tuneIn":"https://tunein.com/radio/American-Suburb-p1086805/","rss":"https://ww2.kqed.org/news/series/american-suburb-podcast/feed/podcast","google":"https://podcasts.google.com/feed/aHR0cHM6Ly9mZWVkcy5tZWdhcGhvbmUuZm0vS1FJTkMzMDExODgxNjA5"}},"baycurious":{"id":"baycurious","title":"Bay Curious","tagline":"Exploring the Bay Area, one question at a time","info":"KQED’s new podcast, Bay Curious, gets to the bottom of the mysteries — both profound and peculiar — that give the Bay Area its unique identity. And we’ll do it with your help! You ask the questions. You decide what Bay Curious investigates. And you join us on the journey to find the answers.","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Bay-Curious-Podcast-Tile-703x703-1.jpg","imageAlt":"\"KQED Bay Curious","officialWebsiteLink":"/news/series/baycurious","meta":{"site":"news","source":"kqed","order":"4"},"link":"/podcasts/baycurious","subscribe":{"apple":"https://podcasts.apple.com/us/podcast/bay-curious/id1172473406","npr":"https://www.npr.org/podcasts/500557090/bay-curious","rss":"https://ww2.kqed.org/news/category/bay-curious-podcast/feed/podcast","google":"https://podcasts.google.com/feed/aHR0cHM6Ly93dzIua3FlZC5vcmcvbmV3cy9jYXRlZ29yeS9iYXktY3VyaW91cy1wb2RjYXN0L2ZlZWQvcG9kY2FzdA","stitcher":"https://www.stitcher.com/podcast/kqed/bay-curious","spotify":"https://open.spotify.com/show/6O76IdmhixfijmhTZLIJ8k"}},"bbc-world-service":{"id":"bbc-world-service","title":"BBC World Service","info":"The day's top stories from BBC News compiled twice daily in the week, once at weekends.","airtime":"MON-FRI 9pm-10pm, TUE-FRI 1am-2am","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/BBC-World-Service-Podcast-Tile-360x360-1.jpg","officialWebsiteLink":"https://www.bbc.co.uk/sounds/play/live:bbc_world_service","meta":{"site":"news","source":"BBC World Service"},"link":"/radio/program/bbc-world-service","subscribe":{"apple":"https://itunes.apple.com/us/podcast/global-news-podcast/id135067274?mt=2","tuneIn":"https://tunein.com/radio/BBC-World-Service-p455581/","rss":"https://podcasts.files.bbci.co.uk/p02nq0gn.rss"}},"code-switch-life-kit":{"id":"code-switch-life-kit","title":"Code Switch / Life Kit","info":"\u003cem>Code Switch\u003c/em>, which listeners will hear in the first part of the hour, has fearless and much-needed conversations about race. Hosted by journalists of color, the show tackles the subject of race head-on, exploring how it impacts every part of society — from politics and pop culture to history, sports and more.\u003cbr />\u003cbr />\u003cem>Life Kit\u003c/em>, which will be in the second part of the hour, guides you through spaces and feelings no one prepares you for — from finances to mental health, from workplace microaggressions to imposter syndrome, from relationships to parenting. The show features experts with real world experience and shares their knowledge. 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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You can also visit the MindShift website for episodes and supplemental blog posts or tweet us \u003ca href=\"https://twitter.com/MindShiftKQED\">@MindShiftKQED\u003c/a> or visit us at \u003ca href=\"/mindshift\">MindShift.KQED.org\u003c/a>","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Mindshift-Podcast-Tile-703x703-1.jpg","imageAlt":"KQED MindShift: How We Will Learn","officialWebsiteLink":"/mindshift/","meta":{"site":"news","source":"kqed","order":"2"},"link":"/podcasts/mindshift","subscribe":{"apple":"https://podcasts.apple.com/us/podcast/mindshift-podcast/id1078765985","google":"https://podcasts.google.com/feed/aHR0cHM6Ly9mZWVkcy5tZWdhcGhvbmUuZm0vS1FJTkM1NzY0NjAwNDI5","npr":"https://www.npr.org/podcasts/464615685/mind-shift-podcast","stitcher":"https://www.stitcher.com/podcast/kqed/stories-teachers-share","spotify":"https://open.spotify.com/show/0MxSpNYZKNprFLCl7eEtyx"}},"morning-edition":{"id":"morning-edition","title":"Morning Edition","info":"\u003cem>Morning Edition\u003c/em> takes listeners around the country and the world with multi-faceted stories and commentaries every weekday. 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On Our Watch brings listeners into the rooms where officers are questioned and witnesses are interrogated to find out who this system is really protecting. 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For one hour a week, the show tries to lift the veil from the process of \"making media,\" especially news media, because it's through that lens that we see the world and the world sees us","airtime":"SUN 2pm-3pm, MON 12am-1am","imageSrc":"https://ww2.kqed.org/radio/wp-content/uploads/sites/50/2018/04/onTheMedia.png","officialWebsiteLink":"https://www.wnycstudios.org/shows/otm","meta":{"site":"news","source":"wnyc"},"link":"/radio/program/on-the-media","subscribe":{"apple":"https://itunes.apple.com/us/podcast/on-the-media/id73330715?mt=2","tuneIn":"https://tunein.com/radio/On-the-Media-p69/","rss":"http://feeds.wnyc.org/onthemedia"}},"our-body-politic":{"id":"our-body-politic","title":"Our Body Politic","info":"Presented by KQED, KCRW and KPCC, and created and hosted by award-winning journalist Farai Chideya, Our Body Politic is unapologetically centered on reporting on not just how women of color experience the major political events of today, but how they’re impacting those very issues.","airtime":"SAT 6pm-7pm, SUN 1am-2am","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Our-Body-Politic-Podcast-Tile-360x360-1.jpg","officialWebsiteLink":"https://our-body-politic.simplecast.com/","meta":{"site":"news","source":"kcrw"},"link":"/radio/program/our-body-politic","subscribe":{"apple":"https://podcasts.apple.com/us/podcast/our-body-politic/id1533069868","google":"https://podcasts.google.com/feed/aHR0cHM6Ly9mZWVkcy5zaW1wbGVjYXN0LmNvbS9feGFQaHMxcw","spotify":"https://open.spotify.com/show/4ApAiLT1kV153TttWAmqmc","rss":"https://feeds.simplecast.com/_xaPhs1s","tuneIn":"https://tunein.com/podcasts/News--Politics-Podcasts/Our-Body-Politic-p1369211/"}},"pbs-newshour":{"id":"pbs-newshour","title":"PBS NewsHour","info":"Analysis, background reports and updates from the PBS NewsHour putting today's news in context.","airtime":"MON-FRI 3pm-4pm","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/PBS-News-Hour-Podcast-Tile-360x360-1.jpg","officialWebsiteLink":"https://www.pbs.org/newshour/","meta":{"site":"news","source":"pbs"},"link":"/radio/program/pbs-newshour","subscribe":{"apple":"https://itunes.apple.com/us/podcast/pbs-newshour-full-show/id394432287?mt=2","tuneIn":"https://tunein.com/radio/PBS-NewsHour---Full-Show-p425698/","rss":"https://www.pbs.org/newshour/feeds/rss/podcasts/show"}},"perspectives":{"id":"perspectives","title":"Perspectives","tagline":"KQED's series of of daily listener commentaries since 1991","info":"KQED's series of of daily listener commentaries since 1991.","imageSrc":"https://cdn.kqed.org/wp-content/uploads/2024/04/Perspectives-Podcast-Tile-703x703-1.jpg","officialWebsiteLink":"/perspectives/","meta":{"site":"radio","source":"kqed","order":"15"},"link":"/perspectives","subscribe":{"apple":"https://podcasts.apple.com/us/podcast/id73801135","npr":"https://www.npr.org/podcasts/432309616/perspectives","rss":"https://ww2.kqed.org/perspectives/category/perspectives/feed/","google":"https://podcasts.google.com/feed/aHR0cHM6Ly93dzIua3FlZC5vcmcvcGVyc3BlY3RpdmVzL2NhdGVnb3J5L3BlcnNwZWN0aXZlcy9mZWVkLw"}},"planet-money":{"id":"planet-money","title":"Planet Money","info":"The economy explained. 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In the Radiolab world, information sounds like music and science and culture collide. Hosted by Jad Abumrad and Robert Krulwich, the show is designed for listeners who demand skepticism, but appreciate wonder. 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The result is stories that inform and inspire, arming our listeners with information to right injustices, hold the powerful accountable and improve lives.Reveal is hosted by Al Letson and showcases the award-winning work of CIR and newsrooms large and small across the nation. In a radio and podcast market crowded with choices, Reveal focuses on important and often surprising stories that illuminate the world for our listeners.","airtime":"SAT 4pm-5pm","imageSrc":"https://ww2.kqed.org/radio/wp-content/uploads/sites/50/2018/04/reveal300px.png","officialWebsiteLink":"https://www.revealnews.org/episodes/","meta":{"site":"news","source":"npr"},"link":"/radio/program/reveal","subscribe":{"apple":"https://itunes.apple.com/us/podcast/reveal/id886009669","tuneIn":"https://tunein.com/radio/Reveal-p679597/","rss":"http://feeds.revealradio.org/revealpodcast"}},"says-you":{"id":"says-you","title":"Says You!","info":"Public radio's game show of bluff and bluster, words and whimsy. 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