Easy DNA Identifications With Genealogy Databases Raise Privacy Concerns
CRISPR Cures Inherited Disorder in Mice, Paving Way for Genetic Therapy Before Birth
In Rare Case, Patient Developed Resistance to CAR-T and Died
Is the Federal Government Politicizing Research Involving Fetal Tissue?
Historic Gene Editing Attempt in First Human Off to a Positive Start
Multi-Gene Test May Find Risk for Heart Disease and More
Ambitious 'Human Cell Atlas' Aims To Catalog Every Type Of Cell In The Body
Genetic Tests Can Hurt Your Chances Of Getting Some Types Of Insurance
Potential DNA Damage From CRISPR ‘Seriously Underestimated,’ Study Finds
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Databases Raise Privacy Concerns","publishDate":1539363244,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>Police in California \u003ca href=\"https://www.npr.org/sections/thetwo-way/2018/04/27/606624218/in-hunt-for-golden-state-killer-investigators-uploaded-his-dna-to-genealogy-site\" target=\"_blank\" rel=\"noopener\">made headlines\u003c/a> this spring when they charged a former police officer with being the Golden State Killer, a man who allegedly committed a series of notorious rapes and murders in the 1970s and '80s.[contextly_sidebar id=\"wnxqjWPunPnkNxirmoKmxB8OyxTBzMuy\"]\u003c/p>\n\u003cp>Authorities revealed they used DNA from a publicly available genealogy website to crack the case.\u003c/p>\n\u003cp>Since then, police around the country have started doing the same sort of thing to solve other cold cases.\u003c/p>\n\u003cp>That prompted \u003ca href=\"https://www.myheritage.com/management/yaniv_erlich\" target=\"_blank\" rel=\"noopener\">Yaniv Erlich, \u003c/a>the chief science officer at the Israeli company \u003ca href=\"https://www.myheritage.com/\" target=\"_blank\" rel=\"noopener\">MyHeritage\u003c/a>, to investigate just how easy it is to use public genealogy databases to track down people.\u003c/p>\n\u003cp>\"We wanted to quantify how powerful this technique is to identify individuals,\" Erlich says. So he and his colleagues analyzed the genomes of 1.28 million people in the company's database.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>In a \u003ca href=\"http://science.sciencemag.org/lookup/doi/10.1126/science.aau4832\" target=\"_blank\" rel=\"noopener\">paper \u003c/a>published Thursday in the journal \u003cem>Science\u003c/em>, the researchers projected that they could identify third cousins and more closely related relatives in more than 60 percent of people of European descent. (They chose this group because most people in their database have that ancestry.)\u003c/p>\n\u003cp>\"It's kind of like each person in this database is a beacon that illuminates hundreds of distant relatives,\" Erlich says. \"So it's enough to have your third cousin or your second cousin once-removed in these databases to actually identify you.\"[contextly_sidebar id=\"B44UUm4fmJ0qJhwetu8JjvUYBxbNVQtq\"]\u003c/p>\n\u003cp>And when the researchers combined their strategy with other information, such a specific geographic area or the approximate age of a person, they could quickly reduce a list of possibilities to just a few people.\u003c/p>\n\u003cp>\"Of course, you need the genealogical records. You need to do the work. But you have enough power to to get very close,\" Erlich says.\u003c/p>\n\u003cp>And that's not all. Erlich estimates that as his and other databases grow, investigators will essentially be able to identify anyone in the United States within that ethnic background within a few years.\u003c/p>\n\u003cp>\"It seems that very quickly we can get virtually to nearly everyone,\" Erlich says.\u003c/p>\n\u003cp>In another part of the study, the researchers went even further to see if they could do the same thing with other DNA databases. They were able to use their techniques to identify a supposedly anonymous woman whose DNA was stored in the \u003ca href=\"https://www.genome.gov/27528684/1000-genomes-project/\" target=\"_blank\" rel=\"noopener\">1,000 Genomes Project\u003c/a>, a National Institutes of Health research database.\u003c/p>\n\u003cp>\"This technique doesn't only get you criminals,\" Erlich says. \"You can also use this technique for other purposes — maybe purposes that could be illegitimate.\"\u003c/p>\n\u003cp>And that, he says, raises serious questions about privacy.\u003c/p>\n\u003cp>\"The police currently [are] using these techniques to find ... [murderers] and bad people,\" Erlich says. \"But are we OK with using this technique to identify people in a political demonstration who left their DNA behind? There are many scenarios that you can think about misuse.\"[contextly_sidebar id=\"EdtIiFNqDOAH81r6zsse3iX6ZCM6PiDN\"]\u003c/p>\n\u003cp>But some people involved in genealogical forensics defend the use of the techniques to help solves serious crimes.\u003c/p>\n\u003cp>\"I was excited to see this demonstration that genetic genealogy is so powerful,\" says \u003ca href=\"https://www.parabon-nanolabs.com/nanolabs/news-events/2015/10/snapshot-ishi-presentation.html\" target=\"_blank\" rel=\"noopener\">Ellen Greytak\u003c/a>, director of bioinformatics at \u003ca href=\"https://parabon-nanolabs.com/\" target=\"_blank\" rel=\"noopener\">Parabon Nanolabs, Inc.\u003c/a>, which helps police solve crimes this way.\u003c/p>\n\u003cp>\"We're working on these cases that haven't been able to be solved for decades. They are all either homicide or sexual assault. And some of these are horrific,\" she says.\u003c/p>\n\u003cp>But Greytak and her colleagues caution that this study suggests the process is easier than it seems.\u003c/p>\n\u003cp>\"There are a number of problematic assumptions made in the study that do not reflect the reality of the work I am doing,\" writes \u003ca href=\"http://www.yourgeneticgenealogist.com/p/about-me.html\" target=\"_blank\" rel=\"noopener\">CeCe Moore\u003c/a>, who works with Parabon, in an e-mail. \"The study demonstrates the power of genetic genealogy in a theoretical way, but does not fully capture the challenges of the work in practice.\"\u003c/p>\n\u003cp>But others argue that the findings underscore the need to make sure people know what they're getting into when they provide their genetic information to genealogy services and other databases.\u003c/p>\n\u003cp>\"When you make those decisions to put the genome out in the world it's really hard to dial it back,\" \u003ca href=\"https://its.law.nyu.edu/facultyprofiles/index.cfm?fuseaction=profile.overview&personid=31567\" target=\"_blank\" rel=\"noopener\">Erin Murphy\u003c/a>, a professor at the New York University School of Law.\u003c/p>\n\u003cp>\"And more importantly,\" she says, \"you've made a decision not just for yourself but for your siblings, for your distant cousins, people you don't even know you're related to, for your children, for your children's children.\"\u003c/p>\n\u003cp>A second \u003ca href=\"http://www.cell.com/cell/fulltext/S0092-8674(18)31180-2\" target=\"_blank\" rel=\"noopener\">paper\u003c/a> published Thursday in the journal \u003cem>Cell\u003c/em> found that it could be possible to link ancestry databases to older law enforcement DNA databases, giving police yet another potential tool.\u003c/p>\n\u003cp>\"We were trying to pose the question of whether a newer, more modern system of genetic markers could be tested against the old system and still get matches and find relatives,\" says \u003ca href=\"https://profiles.stanford.edu/noah-rosenberg\" target=\"_blank\" rel=\"noopener\">Noah Rosenberg\u003c/a>, a biology professor at Stanford University.\u003c/p>\n\u003cp>Taking these studies together, some bioethicists and legal experts say they show that it's important to take steps to protect genetic information and make sure people providing DNA samples are aware of the risks.\u003c/p>\n\u003cp>\"We can tell people that we can de-identify their data,\" says \u003ca href=\"https://www.bioethics.nih.gov/people/berkman-bio.shtml\" target=\"_blank\" rel=\"noopener\">Benjamin Berkman\u003c/a>, a bioethicist at the National Institutes of Health, who was speaking for himself, not NIH. \"We can tell them about all the procedural and technical safeguards that we've put in place to protect the confidentiality of their data. But I don't think we can promise people anonymity.\"\u003c/p>\n\u003cp>As a result, Berkman says, \"it's incumbent on anyone collecting and aggregating and sharing genomic data to be clear exactly how the data will be treated and whether there are any risks to genomic privacy.\"\u003c/p>\n\u003cp>For his part, Erlich proposes that all genetic information be encrypted to protect the information and enable people to explicitly provide consent for using their data.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\"It sounds geeky and complicated, but it's very simple in practice,\" Erlich says.\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2018 NPR. To see more, visit http://www.npr.org/.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=Easy+DNA+Identifications+With+Genealogy+Databases+Raise+Privacy+Concerns&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\n","blocks":[],"excerpt":"A majority of Americans of European descent could be linked to third cousins, or closer relatives, using genealogy databases, a study finds. Soon it may be possible to identify nearly everyone by DNA.","status":"publish","parent":0,"modified":1539363353,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":32,"wordCount":989},"headData":{"title":"Easy DNA Identifications With Genealogy Databases Raise Privacy Concerns | KQED","description":"A majority of Americans of European descent could be linked to third cousins, or closer relatives, using genealogy databases, a study finds. Soon it may be possible to identify nearly everyone by DNA.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"445019 https://ww2.kqed.org/futureofyou/?p=445019","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/10/12/easy-dna-identifications-with-genealogy-databases-raise-privacy-concerns/","disqusTitle":"Easy DNA Identifications With Genealogy Databases Raise Privacy Concerns","source":"DIY Health","nprByline":"Rob Stein, NPR","nprImageAgency":"Randy Pench/Sacramento Bee/TNS via Getty Images","nprStoryId":"656268742","nprApiLink":"http://api.npr.org/query?id=656268742&apiKey=MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004","nprHtmlLink":"https://www.npr.org/sections/health-shots/2018/10/11/656268742/easy-dna-identifications-with-genealogy-databases-raise-privacy-concerns?ft=nprml&f=656268742","nprRetrievedStory":"1","nprPubDate":"Thu, 11 Oct 2018 18:53:00 -0400","nprStoryDate":"Thu, 11 Oct 2018 15:58:00 -0400","nprLastModifiedDate":"Thu, 11 Oct 2018 16:51:42 -0400","nprAudio":"https://ondemand.npr.org/anon.npr-mp3/npr/atc/2018/10/20181011_atc_easy_dna_identifications_with_genealogy_databases_raise_privacy_concerns.mp3?orgId=1&topicId=1128&d=251&p=2&story=656268742&ft=nprml&f=656268742","nprAudioM3u":"http://api.npr.org/m3u/1656682250-420468.m3u?orgId=1&topicId=1128&d=251&p=2&story=656268742&ft=nprml&f=656268742","audioTrackLength":251,"path":"/futureofyou/445019/easy-dna-identifications-with-genealogy-databases-raise-privacy-concerns","audioUrl":"https://ondemand.npr.org/anon.npr-mp3/npr/atc/2018/10/20181011_atc_easy_dna_identifications_with_genealogy_databases_raise_privacy_concerns.mp3?orgId=1&topicId=1128&d=251&p=2&story=656268742&ft=nprml&f=656268742","parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>Police in California \u003ca href=\"https://www.npr.org/sections/thetwo-way/2018/04/27/606624218/in-hunt-for-golden-state-killer-investigators-uploaded-his-dna-to-genealogy-site\" target=\"_blank\" rel=\"noopener\">made headlines\u003c/a> this spring when they charged a former police officer with being the Golden State Killer, a man who allegedly committed a series of notorious rapes and murders in the 1970s and '80s.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>Authorities revealed they used DNA from a publicly available genealogy website to crack the case.\u003c/p>\n\u003cp>Since then, police around the country have started doing the same sort of thing to solve other cold cases.\u003c/p>\n\u003cp>That prompted \u003ca href=\"https://www.myheritage.com/management/yaniv_erlich\" target=\"_blank\" rel=\"noopener\">Yaniv Erlich, \u003c/a>the chief science officer at the Israeli company \u003ca href=\"https://www.myheritage.com/\" target=\"_blank\" rel=\"noopener\">MyHeritage\u003c/a>, to investigate just how easy it is to use public genealogy databases to track down people.\u003c/p>\n\u003cp>\"We wanted to quantify how powerful this technique is to identify individuals,\" Erlich says. So he and his colleagues analyzed the genomes of 1.28 million people in the company's database.\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>In a \u003ca href=\"http://science.sciencemag.org/lookup/doi/10.1126/science.aau4832\" target=\"_blank\" rel=\"noopener\">paper \u003c/a>published Thursday in the journal \u003cem>Science\u003c/em>, the researchers projected that they could identify third cousins and more closely related relatives in more than 60 percent of people of European descent. (They chose this group because most people in their database have that ancestry.)\u003c/p>\n\u003cp>\"It's kind of like each person in this database is a beacon that illuminates hundreds of distant relatives,\" Erlich says. \"So it's enough to have your third cousin or your second cousin once-removed in these databases to actually identify you.\"\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>And when the researchers combined their strategy with other information, such a specific geographic area or the approximate age of a person, they could quickly reduce a list of possibilities to just a few people.\u003c/p>\n\u003cp>\"Of course, you need the genealogical records. You need to do the work. But you have enough power to to get very close,\" Erlich says.\u003c/p>\n\u003cp>And that's not all. Erlich estimates that as his and other databases grow, investigators will essentially be able to identify anyone in the United States within that ethnic background within a few years.\u003c/p>\n\u003cp>\"It seems that very quickly we can get virtually to nearly everyone,\" Erlich says.\u003c/p>\n\u003cp>In another part of the study, the researchers went even further to see if they could do the same thing with other DNA databases. They were able to use their techniques to identify a supposedly anonymous woman whose DNA was stored in the \u003ca href=\"https://www.genome.gov/27528684/1000-genomes-project/\" target=\"_blank\" rel=\"noopener\">1,000 Genomes Project\u003c/a>, a National Institutes of Health research database.\u003c/p>\n\u003cp>\"This technique doesn't only get you criminals,\" Erlich says. \"You can also use this technique for other purposes — maybe purposes that could be illegitimate.\"\u003c/p>\n\u003cp>And that, he says, raises serious questions about privacy.\u003c/p>\n\u003cp>\"The police currently [are] using these techniques to find ... [murderers] and bad people,\" Erlich says. \"But are we OK with using this technique to identify people in a political demonstration who left their DNA behind? There are many scenarios that you can think about misuse.\"\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>But some people involved in genealogical forensics defend the use of the techniques to help solves serious crimes.\u003c/p>\n\u003cp>\"I was excited to see this demonstration that genetic genealogy is so powerful,\" says \u003ca href=\"https://www.parabon-nanolabs.com/nanolabs/news-events/2015/10/snapshot-ishi-presentation.html\" target=\"_blank\" rel=\"noopener\">Ellen Greytak\u003c/a>, director of bioinformatics at \u003ca href=\"https://parabon-nanolabs.com/\" target=\"_blank\" rel=\"noopener\">Parabon Nanolabs, Inc.\u003c/a>, which helps police solve crimes this way.\u003c/p>\n\u003cp>\"We're working on these cases that haven't been able to be solved for decades. They are all either homicide or sexual assault. And some of these are horrific,\" she says.\u003c/p>\n\u003cp>But Greytak and her colleagues caution that this study suggests the process is easier than it seems.\u003c/p>\n\u003cp>\"There are a number of problematic assumptions made in the study that do not reflect the reality of the work I am doing,\" writes \u003ca href=\"http://www.yourgeneticgenealogist.com/p/about-me.html\" target=\"_blank\" rel=\"noopener\">CeCe Moore\u003c/a>, who works with Parabon, in an e-mail. \"The study demonstrates the power of genetic genealogy in a theoretical way, but does not fully capture the challenges of the work in practice.\"\u003c/p>\n\u003cp>But others argue that the findings underscore the need to make sure people know what they're getting into when they provide their genetic information to genealogy services and other databases.\u003c/p>\n\u003cp>\"When you make those decisions to put the genome out in the world it's really hard to dial it back,\" \u003ca href=\"https://its.law.nyu.edu/facultyprofiles/index.cfm?fuseaction=profile.overview&personid=31567\" target=\"_blank\" rel=\"noopener\">Erin Murphy\u003c/a>, a professor at the New York University School of Law.\u003c/p>\n\u003cp>\"And more importantly,\" she says, \"you've made a decision not just for yourself but for your siblings, for your distant cousins, people you don't even know you're related to, for your children, for your children's children.\"\u003c/p>\n\u003cp>A second \u003ca href=\"http://www.cell.com/cell/fulltext/S0092-8674(18)31180-2\" target=\"_blank\" rel=\"noopener\">paper\u003c/a> published Thursday in the journal \u003cem>Cell\u003c/em> found that it could be possible to link ancestry databases to older law enforcement DNA databases, giving police yet another potential tool.\u003c/p>\n\u003cp>\"We were trying to pose the question of whether a newer, more modern system of genetic markers could be tested against the old system and still get matches and find relatives,\" says \u003ca href=\"https://profiles.stanford.edu/noah-rosenberg\" target=\"_blank\" rel=\"noopener\">Noah Rosenberg\u003c/a>, a biology professor at Stanford University.\u003c/p>\n\u003cp>Taking these studies together, some bioethicists and legal experts say they show that it's important to take steps to protect genetic information and make sure people providing DNA samples are aware of the risks.\u003c/p>\n\u003cp>\"We can tell people that we can de-identify their data,\" says \u003ca href=\"https://www.bioethics.nih.gov/people/berkman-bio.shtml\" target=\"_blank\" rel=\"noopener\">Benjamin Berkman\u003c/a>, a bioethicist at the National Institutes of Health, who was speaking for himself, not NIH. \"We can tell them about all the procedural and technical safeguards that we've put in place to protect the confidentiality of their data. But I don't think we can promise people anonymity.\"\u003c/p>\n\u003cp>As a result, Berkman says, \"it's incumbent on anyone collecting and aggregating and sharing genomic data to be clear exactly how the data will be treated and whether there are any risks to genomic privacy.\"\u003c/p>\n\u003cp>For his part, Erlich proposes that all genetic information be encrypted to protect the information and enable people to explicitly provide consent for using their data.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\"It sounds geeky and complicated, but it's very simple in practice,\" Erlich says.\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2018 NPR. To see more, visit http://www.npr.org/.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=Easy+DNA+Identifications+With+Genealogy+Databases+Raise+Privacy+Concerns&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/445019/easy-dna-identifications-with-genealogy-databases-raise-privacy-concerns","authors":["byline_futureofyou_445019"],"categories":["futureofyou_1060","futureofyou_1","futureofyou_73","futureofyou_1064"],"tags":["futureofyou_464","futureofyou_17","futureofyou_197"],"collections":["futureofyou_1093","futureofyou_1094"],"featImg":"futureofyou_445020","label":"source_futureofyou_445019"},"futureofyou_444942":{"type":"posts","id":"futureofyou_444942","meta":{"index":"posts_1591205157","site":"futureofyou","id":"444942","score":null,"sort":[1539118849000]},"guestAuthors":[],"slug":"crispr-cures-inherited-disorder-in-mice-paving-way-for-genetic-therapy-before-birth","title":"CRISPR Cures Inherited Disorder in Mice, Paving Way for Genetic Therapy Before Birth","publishDate":1539118849,"format":"standard","headTitle":"Future of You | KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp class=\"danger-zone\">Nearly 40 years after surgeons first \u003ca href=\"https://www.ucsf.edu/news/2011/02/9366/ucsf-surgeon-reflects-performing-worlds-first-fetal-surgery-30-years-ago\" target=\"_blank\" rel=\"noopener\">operated on fetuses\u003c/a> to cure devastating abnormalities, researchers have taken the first step toward curing genetic disease before birth via genome editing: scientists reported on Monday that they used the genome editing technique CRISPR to alter the DNA of laboratory mice in the womb, eliminating an often-fatal liver disease before the animals had even been born.[contextly_sidebar id=\"kLt87B75fzdQ6XiJiVHbmy8S3RDMp2KF\"]\u003c/p>\n\u003cp class=\"danger-zone\">The research, by a team at the University of Pennsylvania and the Children’s Hospital of Philadelphia (CHOP), is a very early proof of concept. But while CRISPRing human fetuses is years away, at best, the success in mice bolsters what Dr. William Peranteau, who co-led the study, calls his dream of curing genetic diseases before birth.\u003c/p>\n\u003cp class=\"danger-zone\">“A lot more animal work needs to be done before we can even think about applying this [fetal genome editing] clinically,” said Peranteau, a pediatric and fetal surgeon at CHOP. “But I think fetal genome editing may be where fetal surgery [which is now routine] once was, and that one day we’ll use it to treat diseases that cause significant morbidity and mortality.”\u003c/p>\n\u003cp>Simon Waddington of University College London, a leader in research to develop fetal gene therapy who was not involved in the new study, called the CRISPR approach “an elegant refinement of the brute-force technology” that’s been the focus of \u003ca href=\"https://www.nature.com/articles/s41591-018-0106-7\" target=\"_blank\" rel=\"noopener\">animal studies\u003c/a> of fetal genetic therapy.\u003c/p>\n\u003cp>The success in mouse fetuses raises the possibility that, even before \u003ca href=\"https://www.statnews.com/2018/07/25/can-gene-therapy-halt-diseases-in-babies-before-theyre-even-born/\">traditional gene therapy\u003c/a> is ready to treat inherited disorders in utero, genome editing might emerge as a safer, more effective approach. In traditional gene therapy, an entire healthy gene is ferried, typically by a virus, into cells containing a disease-causing gene. With CRISPR, only the mutated bit of a defective gene is changed. It’s the difference between retyping a whole 5,000 word document and using Word’s “find and replace” to correct a typo.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>“We think this represents a safer and more precise way to make changes in the genome,” said Dr. Kiran Musunuru of Penn and a co-leader of the study. “It’s is the better way forward if you want to take CRISPR into the clinic.”[contextly_sidebar id=\"WspKwnRfkmuJ8Ui6Pu5mBgKtCSqZqfJ5\"]\u003c/p>\n\u003cp>The rationale for fetal genetic therapy is simple: it could halt a disease before it causes irreversible and even fatal damage. In people, the inherited liver disease that the scientists targeted in mice, called hereditary tyrosinemia type 1, starts damaging the liver months before birth. Another rationale: because a fetus’s immune system is immature, it is less likely than even a newborn’s to attack the alien CRISPR molecules.\u003c/p>\n\u003cp>For their study, \u003ca href=\"https://www.nature.com/articles/s41591-018-0184-6\" target=\"_blank\" rel=\"noopener\">published in Nature Medicine\u003c/a>, Musunuru and his colleagues gently opened the uterus of a pregnant mouse, removed the fetus from the amniotic sac, and injected CRISPR into the vitelline vein, which is near the surface of the sac and connects to the liver. “We wanted to make sure we got the genome editor into the liver rather than everywhere else,” Musunuru said. The fetus was then replaced in the uterus and was born normally.\u003c/p>\n\u003cp>Instead of using the original form of CRISPR, which cuts DNA where a gene is mutated and inserts a replacement string of A’s, T’s, C’s, and G’s, the scientists used the form of CRISPR called base editing. \u003ca href=\"https://www.statnews.com/2016/04/20/clever-crispr-advance-unveiled/%5D\">Invented\u003c/a> just two years ago, base editing changes an incorrect DNA letter, or base, to the correct one, such as a C to a T or a G to an A. Its advantage is that it doesn’t need to cut DNA to do this, as CRISPR 1.0 does; those cuts can wreak \u003ca href=\"https://www.statnews.com/2018/07/16/crispr-potential-dna-damage-underestimated/\">genetic havoc\u003c/a>, with unknown consequences for CRISPR’d cells.\u003c/p>\n\u003cp>For a dry run, the scientists first made a CRISPR base editor that changes a \u003ca href=\"https://ghr.nlm.nih.gov/gene/PCSK9\" target=\"_blank\" rel=\"noopener\">gene called PCSK9\u003c/a>, which makes a protein that helps regulate the amount of cholesterol in the bloodstream, into a super-cholesterol-lowering form. When injected into mouse fetuses, the base editor changed liver cells as intended and left other organs alone. Crucially, the mouse mother showed no effects of the CRISPR treatment. After birth, the baby mice had ultra-low cholesterol levels, showing that the CRISPR base editor had worked. Only about 15 percent of the liver cells of the baby mice had been edited, but that fraction remained stable through the animals’ adulthood.[contextly_sidebar id=\"7RKromVt2cYnSDdz2L7SJg04iooF89dn\"]\u003c/p>\n\u003cp>The amount of genetic havoc from the base editing was low: about 2 percent, compared to 40 percent for many uses of traditional CRISPR. And none of the likely spots for “off target” effects — DNA sites that resemble the target and so might be inadvertently edited — showed any sign of being altered.\u003c/p>\n\u003cp>The Philadelphia scientists then tried their technique on hereditary tyrosinemia type 1. HT1, which strikes 1 in 100,000 newborns worldwide, is \u003ca href=\"https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1\" target=\"_blank\" rel=\"noopener\">caused by\u003c/a> any of several mutations in a \u003ca href=\"https://ghr.nlm.nih.gov/gene/FAH\" target=\"_blank\" rel=\"noopener\">gene called FAH\u003c/a>. All the mutations cause the build-up of toxic breakdown products of the amino acid tyrosine, a component of protein, and ultimately destroy the liver. Treatment with the drug nitisinone and a strict tyrosine-free diet is not always effective, with the result that children sometimes develop fatal liver failure or liver cancer.\u003c/p>\n\u003cp>The scientists used their base editor on a gene related to the disease-causing one. If this gene, \u003ca href=\"https://ghr.nlm.nih.gov/gene/HPD\" target=\"_blank\" rel=\"noopener\">called HPD\u003c/a>, is disabled, then no toxic metabolites of tyrosine ever get to where FAH is unable to handle them.\u003c/p>\n\u003cp>Changing a C to a T in the HPD gene disabled it. No toxic molecules built up in the livers of the fetal mice. No other organs showed signs of editing, no off-target effects were detected, and having only 15 percent of their liver cells edited was enough to cure the mice and keep them cured into adulthood. “We weren’t expecting it, but the genome-edited mice did much better” than mice treated with nitisinone, Musunuru said. “They survived longer and gained more weight.”\u003c/p>\n\u003cp>The scientists hope to study fetal base editing for other severe congenital diseases. It remains to be seen whether this technique or conventional gene therapy, which provides an entire replacement gene, will work better.\u003c/p>\n\u003cp>“I’d consider that CRISPR isn’t a replacement” for the latter, Waddington said, “but will be an additional tool” for curing genetic diseases in the womb.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\u003ci>\u003cspan style=\"font-weight: 400\">This \u003c/span>\u003c/i>\u003ca href=\"https://www.statnews.com/2018/10/08/crispr-cures-inherited-disorder-in-mice-paving-way-for-genetic-therapy-before-birth/\" target=\"_blank\" rel=\"noopener\">\u003ci>\u003cspan style=\"font-weight: 400\">story\u003c/span>\u003c/i>\u003c/a>\u003ci>\u003cspan style=\"font-weight: 400\"> was originally published by STAT, an online publication of Boston Globe Media that covers health, medicine, and scientific discovery.\u003c/span>\u003c/i>\u003cspan style=\"font-weight: 400\">\u003cbr>\n\u003c/span>\u003c/p>\n\n","blocks":[],"excerpt":"In mice with a fatal genetic disease, toxic proteins begin accumulating in the liver before birth. CRISPR performed in utero reversed the condition.","status":"publish","parent":0,"modified":1539042769,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":16,"wordCount":1141},"headData":{"title":"CRISPR Cures Inherited Disorder in Mice, Paving Way for Genetic Therapy Before Birth | KQED","description":"In mice with a fatal genetic disease, toxic proteins begin accumulating in the liver before birth. CRISPR performed in utero reversed the condition.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"444942 https://ww2.kqed.org/futureofyou/?p=444942","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/10/09/crispr-cures-inherited-disorder-in-mice-paving-way-for-genetic-therapy-before-birth/","disqusTitle":"CRISPR Cures Inherited Disorder in Mice, Paving Way for Genetic Therapy Before Birth","source":"Hope/Hype","nprByline":"Sharon Begley\u003cbr />STAT","path":"/futureofyou/444942/crispr-cures-inherited-disorder-in-mice-paving-way-for-genetic-therapy-before-birth","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp class=\"danger-zone\">Nearly 40 years after surgeons first \u003ca href=\"https://www.ucsf.edu/news/2011/02/9366/ucsf-surgeon-reflects-performing-worlds-first-fetal-surgery-30-years-ago\" target=\"_blank\" rel=\"noopener\">operated on fetuses\u003c/a> to cure devastating abnormalities, researchers have taken the first step toward curing genetic disease before birth via genome editing: scientists reported on Monday that they used the genome editing technique CRISPR to alter the DNA of laboratory mice in the womb, eliminating an often-fatal liver disease before the animals had even been born.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp class=\"danger-zone\">The research, by a team at the University of Pennsylvania and the Children’s Hospital of Philadelphia (CHOP), is a very early proof of concept. But while CRISPRing human fetuses is years away, at best, the success in mice bolsters what Dr. William Peranteau, who co-led the study, calls his dream of curing genetic diseases before birth.\u003c/p>\n\u003cp class=\"danger-zone\">“A lot more animal work needs to be done before we can even think about applying this [fetal genome editing] clinically,” said Peranteau, a pediatric and fetal surgeon at CHOP. “But I think fetal genome editing may be where fetal surgery [which is now routine] once was, and that one day we’ll use it to treat diseases that cause significant morbidity and mortality.”\u003c/p>\n\u003cp>Simon Waddington of University College London, a leader in research to develop fetal gene therapy who was not involved in the new study, called the CRISPR approach “an elegant refinement of the brute-force technology” that’s been the focus of \u003ca href=\"https://www.nature.com/articles/s41591-018-0106-7\" target=\"_blank\" rel=\"noopener\">animal studies\u003c/a> of fetal genetic therapy.\u003c/p>\n\u003cp>The success in mouse fetuses raises the possibility that, even before \u003ca href=\"https://www.statnews.com/2018/07/25/can-gene-therapy-halt-diseases-in-babies-before-theyre-even-born/\">traditional gene therapy\u003c/a> is ready to treat inherited disorders in utero, genome editing might emerge as a safer, more effective approach. In traditional gene therapy, an entire healthy gene is ferried, typically by a virus, into cells containing a disease-causing gene. With CRISPR, only the mutated bit of a defective gene is changed. It’s the difference between retyping a whole 5,000 word document and using Word’s “find and replace” to correct a typo.\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>“We think this represents a safer and more precise way to make changes in the genome,” said Dr. Kiran Musunuru of Penn and a co-leader of the study. “It’s is the better way forward if you want to take CRISPR into the clinic.”\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>The rationale for fetal genetic therapy is simple: it could halt a disease before it causes irreversible and even fatal damage. In people, the inherited liver disease that the scientists targeted in mice, called hereditary tyrosinemia type 1, starts damaging the liver months before birth. Another rationale: because a fetus’s immune system is immature, it is less likely than even a newborn’s to attack the alien CRISPR molecules.\u003c/p>\n\u003cp>For their study, \u003ca href=\"https://www.nature.com/articles/s41591-018-0184-6\" target=\"_blank\" rel=\"noopener\">published in Nature Medicine\u003c/a>, Musunuru and his colleagues gently opened the uterus of a pregnant mouse, removed the fetus from the amniotic sac, and injected CRISPR into the vitelline vein, which is near the surface of the sac and connects to the liver. “We wanted to make sure we got the genome editor into the liver rather than everywhere else,” Musunuru said. The fetus was then replaced in the uterus and was born normally.\u003c/p>\n\u003cp>Instead of using the original form of CRISPR, which cuts DNA where a gene is mutated and inserts a replacement string of A’s, T’s, C’s, and G’s, the scientists used the form of CRISPR called base editing. \u003ca href=\"https://www.statnews.com/2016/04/20/clever-crispr-advance-unveiled/%5D\">Invented\u003c/a> just two years ago, base editing changes an incorrect DNA letter, or base, to the correct one, such as a C to a T or a G to an A. Its advantage is that it doesn’t need to cut DNA to do this, as CRISPR 1.0 does; those cuts can wreak \u003ca href=\"https://www.statnews.com/2018/07/16/crispr-potential-dna-damage-underestimated/\">genetic havoc\u003c/a>, with unknown consequences for CRISPR’d cells.\u003c/p>\n\u003cp>For a dry run, the scientists first made a CRISPR base editor that changes a \u003ca href=\"https://ghr.nlm.nih.gov/gene/PCSK9\" target=\"_blank\" rel=\"noopener\">gene called PCSK9\u003c/a>, which makes a protein that helps regulate the amount of cholesterol in the bloodstream, into a super-cholesterol-lowering form. When injected into mouse fetuses, the base editor changed liver cells as intended and left other organs alone. Crucially, the mouse mother showed no effects of the CRISPR treatment. After birth, the baby mice had ultra-low cholesterol levels, showing that the CRISPR base editor had worked. Only about 15 percent of the liver cells of the baby mice had been edited, but that fraction remained stable through the animals’ adulthood.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>The amount of genetic havoc from the base editing was low: about 2 percent, compared to 40 percent for many uses of traditional CRISPR. And none of the likely spots for “off target” effects — DNA sites that resemble the target and so might be inadvertently edited — showed any sign of being altered.\u003c/p>\n\u003cp>The Philadelphia scientists then tried their technique on hereditary tyrosinemia type 1. HT1, which strikes 1 in 100,000 newborns worldwide, is \u003ca href=\"https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1\" target=\"_blank\" rel=\"noopener\">caused by\u003c/a> any of several mutations in a \u003ca href=\"https://ghr.nlm.nih.gov/gene/FAH\" target=\"_blank\" rel=\"noopener\">gene called FAH\u003c/a>. All the mutations cause the build-up of toxic breakdown products of the amino acid tyrosine, a component of protein, and ultimately destroy the liver. Treatment with the drug nitisinone and a strict tyrosine-free diet is not always effective, with the result that children sometimes develop fatal liver failure or liver cancer.\u003c/p>\n\u003cp>The scientists used their base editor on a gene related to the disease-causing one. If this gene, \u003ca href=\"https://ghr.nlm.nih.gov/gene/HPD\" target=\"_blank\" rel=\"noopener\">called HPD\u003c/a>, is disabled, then no toxic metabolites of tyrosine ever get to where FAH is unable to handle them.\u003c/p>\n\u003cp>Changing a C to a T in the HPD gene disabled it. No toxic molecules built up in the livers of the fetal mice. No other organs showed signs of editing, no off-target effects were detected, and having only 15 percent of their liver cells edited was enough to cure the mice and keep them cured into adulthood. “We weren’t expecting it, but the genome-edited mice did much better” than mice treated with nitisinone, Musunuru said. “They survived longer and gained more weight.”\u003c/p>\n\u003cp>The scientists hope to study fetal base editing for other severe congenital diseases. It remains to be seen whether this technique or conventional gene therapy, which provides an entire replacement gene, will work better.\u003c/p>\n\u003cp>“I’d consider that CRISPR isn’t a replacement” for the latter, Waddington said, “but will be an additional tool” for curing genetic diseases in the womb.\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>\u003ci>\u003cspan style=\"font-weight: 400\">This \u003c/span>\u003c/i>\u003ca href=\"https://www.statnews.com/2018/10/08/crispr-cures-inherited-disorder-in-mice-paving-way-for-genetic-therapy-before-birth/\" target=\"_blank\" rel=\"noopener\">\u003ci>\u003cspan style=\"font-weight: 400\">story\u003c/span>\u003c/i>\u003c/a>\u003ci>\u003cspan style=\"font-weight: 400\"> was originally published by STAT, an online publication of Boston Globe Media that covers health, medicine, and scientific discovery.\u003c/span>\u003c/i>\u003cspan style=\"font-weight: 400\">\u003cbr>\n\u003c/span>\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/444942/crispr-cures-inherited-disorder-in-mice-paving-way-for-genetic-therapy-before-birth","authors":["byline_futureofyou_444942"],"programs":["futureofyou_54"],"categories":["futureofyou_1062","futureofyou_1","futureofyou_73"],"tags":["futureofyou_94","futureofyou_927","futureofyou_324"],"collections":["futureofyou_1097","futureofyou_1094"],"featImg":"futureofyou_1194","label":"source_futureofyou_444942"},"futureofyou_444751":{"type":"posts","id":"futureofyou_444751","meta":{"index":"posts_1591205157","site":"futureofyou","id":"444751","score":null,"sort":[1538506822000]},"guestAuthors":[],"slug":"in-rare-case-patient-developed-resistance-to-car-t","title":"In Rare Case, Patient Developed Resistance to CAR-T and Died","publishDate":1538506822,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp class=\"danger-zone\">To make CAR-T therapies, the pioneering cancer treatments, scientists introduce a gene into the body’s immune cells that \u003ca href=\"https://www.statnews.com/2016/12/06/cancer-car-t-factory/\" target=\"_blank\" rel=\"noopener\">turns them into cancer-homing attackers\u003c/a>. But in one case described by scientists Monday, the gene was inadvertently delivered to a cancer cell instead, camouflaging it from the therapy and allowing the cancer to develop resistance to treatment.[contextly_sidebar id=\"2oDy3tMb8Wl0Nea5cfkgpFgdjClpiQ4V\"]\u003c/p>\n\u003cp class=\"danger-zone\">The patient ultimately died.\u003c/p>\n\u003cp class=\"danger-zone\">The case, \u003ca href=\"https://www.nature.com/articles/s41591-018-0201-9\" target=\"_blank\" rel=\"noopener\">reported\u003c/a> in the journal Nature Medicine, appears to have been exceedingly rare — one occurrence among \u003ca href=\"https://www.statnews.com/2018/07/17/car-t-bottleneck-cell-collection-centers-feel-crunch/\" target=\"_blank\" rel=\"noopener\">the hundreds of cases\u003c/a> of CAR-T treatment that have been examined.\u003c/p>\n\u003cp class=\"\">But as the treatments become more widely used, experts say, the case also points to the importance of researchers understanding all the ways in which \u003ca href=\"https://www.statnews.com/2017/10/27/car-t-kite-cell-journey/\" rel=\"noopener\">the process of making them\u003c/a> can go wrong.\u003c/p>\n\u003cp class=\"\">“We’re going to need papers like this one” to identify how cancers can become resistant to CAR-Ts, said Dr. \u003ca href=\"https://faculty.mdanderson.org/profiles/jason_westin.html\" target=\"_blank\" rel=\"noopener\">Jason Westin\u003c/a>, who leads the aggressive lymphoma team at MD Anderson Cancer Center and who was not involved in the new report. “But this CAR-T data is one of the most exciting things we’ve seen in cancer in forever. Having rare theoretical things that actually happen is concerning, but it should in no way temper the potential for the future of CAR-T cells.”\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>The study’s authors have discussed the case, which occurred about five years ago, at scientific meetings, helping to spread awareness. And the process of manufacturing CAR-Ts has improved over that time, reducing the chance that a cancer cell inadvertently receives the gene meant for immune cells.[contextly_sidebar id=\"sNFqnG5MPMrhzsMuBzMQ3TNcRwq8tXmr\"]\u003c/p>\n\u003cp>“We’re getting much better at getting a purer starting population” of immune cells, said \u003ca href=\"https://www.med.upenn.edu/apps/faculty/index.php/g20001883/p8587263\" target=\"_blank\" rel=\"noopener\">Jos Melenhorst\u003c/a>, an immunology expert at the University of Pennsylvania and one of the authors of the report.\u003c/p>\n\u003cp>The subject of the newly described case was a 20-year-old man with B cell acute lymphoblastic leukemia. He was participating in a Phase 1 clinical trial for a CAR-T product then called CTL019, which \u003ca href=\"https://www.pennmedicine.org/news/news-releases/2017/august/fda-approves-personalized-cellular-therapy-for-advanced-leukemia\" target=\"_blank\" rel=\"noopener\">was developed\u003c/a> by researchers at Penn and Children’s Hospital of Philadelphia.\u003c/p>\n\u003cp>As with any CAR-T patient, the man had immune cells called T cells scooped out from his blood through a process called apheresis. Then, those cells were supercharged with a gene that codes for a receptor (the CAR in CAR-T) that turns the cells into bloodhounds on the scent for a specific marker on cancer cells — in this case, a protein called CD19.\u003c/p>\n\u003cp>The patient was infused with a phalanx of the killer T cells, which then swarmed and annihilated the cancer cells. Within a month, his cancer seemed to be in complete remission, Melenhorst said.\u003c/p>\n\u003cp>But as researchers tracked the patient, they noticed something odd. They kept seeing signs of CAR-marked cells, but it wasn’t the body’s T cells expressing CAR anymore.\u003c/p>\n\u003cp>They ran a battery of experiments and confirmed their suspicions: a leukemic B cell had gotten lumped together with the T cells during the manufacturing process and had also taken up the CAR gene. As a result, the leukemia cell was expressing the CAR, which then attached to the CD19 markers, effectively shielding it from the CD19-sniffing machinery of the boosted T cells. It was as if in a game of musical chairs the targeted seat was already filled by the time the music stopped.[contextly_sidebar id=\"nOqcMe5IVLJeCcUCHhq3Pk58784HwGoF\"]\u003c/p>\n\u003cp>“The CAR-T cell couldn’t bind to the CD19 molecule, and thereby it was essentially hiding in plain sight,” Melenhorst said.\u003c/p>\n\u003cp>As the T cells attacked the rest of the leukemia cells, this cell laid low for the most part, slowly proliferating into more resistant cancer cells over time. After about nine months, the patient’s cancer — now resistant to CAR-T — had fully returned. He ultimately died from complications from his leukemia.\u003c/p>\n\u003cp>Melenhorst noted that the case reaches back to the early days of clinical CAR-T use and that improvements in technology since then have allowed manufacturers to ensure that the cells into which they are introducing the CAR gene are less likely to include B cells.\u003c/p>\n\u003cp>A version of the treatment the patient received was \u003ca href=\"https://www.statnews.com/2017/08/30/novartis-car-t-cancer-approved/\" rel=\"noopener\">ultimately approved\u003c/a> as Novartis’s Kymriah in 2017; the paper published Monday includes some authors from Novartis Institutes for BioMedical Research. In a statement, Novartis noted that the manufacturing process used in the case described in the paper was done at Penn and differs from the company’s manufacturing process, which was used in later clinical trials and now for commercial use.\u003c/p>\n\u003cp>“We are not aware of any cases of this happening in the more than 400 patients treated with CTL019/Kymriah manufactured by Novartis for clinical trials or the commercial setting,” the statement said.[contextly_sidebar id=\"DMUx1aVKuHIZSHJYTfdQfqpmBWfT4XxH\"]\u003c/p>\n\u003cp>The company said it has checks throughout the process to clear out B cells and that it is following Kymriah patients for 15 years.\u003c/p>\n\u003cp>“Novartis is continually making improvements to our Kymriah manufacturing process to reduce variability and safely deliver this transformational, personalized treatment to patients in need around the world,” the statement said.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\u003ci>\u003cspan style=\"font-weight: 400\">This \u003c/span>\u003c/i>\u003ca href=\"https://www.statnews.com/2018/10/01/car-t-resistance-cancer-cell-hiding/\" target=\"_blank\" rel=\"noopener\">\u003ci>\u003cspan style=\"font-weight: 400\">story\u003c/span>\u003c/i>\u003c/a>\u003ci>\u003cspan style=\"font-weight: 400\"> was originally published by STAT, an online publication of Boston Globe Media that covers health, medicine, and scientific discovery.\u003c/span>\u003c/i>\u003c/p>\n\n","blocks":[],"excerpt":"How a gene was inadvertently delivered to a cancer cell, camouflaging it from the therapy and allowing the cancer to develop resistance to treatment. \r\n\r\nThe patient ultimately died.","status":"publish","parent":0,"modified":1538438140,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":17,"wordCount":909},"headData":{"title":"In Rare Case, Patient Developed Resistance to CAR-T and Died | KQED","description":"How a gene was inadvertently delivered to a cancer cell, camouflaging it from the therapy and allowing the cancer to develop resistance to treatment. \r\n\r\nThe patient ultimately died.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"444751 https://ww2.kqed.org/futureofyou/?p=444751","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/10/02/in-rare-case-patient-developed-resistance-to-car-t/","disqusTitle":"In Rare Case, Patient Developed Resistance to CAR-T and Died","source":"Hope/Hype","nprByline":"Andrew Joseph\u003cbr />STAT","path":"/futureofyou/444751/in-rare-case-patient-developed-resistance-to-car-t","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp class=\"danger-zone\">To make CAR-T therapies, the pioneering cancer treatments, scientists introduce a gene into the body’s immune cells that \u003ca href=\"https://www.statnews.com/2016/12/06/cancer-car-t-factory/\" target=\"_blank\" rel=\"noopener\">turns them into cancer-homing attackers\u003c/a>. But in one case described by scientists Monday, the gene was inadvertently delivered to a cancer cell instead, camouflaging it from the therapy and allowing the cancer to develop resistance to treatment.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp class=\"danger-zone\">The patient ultimately died.\u003c/p>\n\u003cp class=\"danger-zone\">The case, \u003ca href=\"https://www.nature.com/articles/s41591-018-0201-9\" target=\"_blank\" rel=\"noopener\">reported\u003c/a> in the journal Nature Medicine, appears to have been exceedingly rare — one occurrence among \u003ca href=\"https://www.statnews.com/2018/07/17/car-t-bottleneck-cell-collection-centers-feel-crunch/\" target=\"_blank\" rel=\"noopener\">the hundreds of cases\u003c/a> of CAR-T treatment that have been examined.\u003c/p>\n\u003cp class=\"\">But as the treatments become more widely used, experts say, the case also points to the importance of researchers understanding all the ways in which \u003ca href=\"https://www.statnews.com/2017/10/27/car-t-kite-cell-journey/\" rel=\"noopener\">the process of making them\u003c/a> can go wrong.\u003c/p>\n\u003cp class=\"\">“We’re going to need papers like this one” to identify how cancers can become resistant to CAR-Ts, said Dr. \u003ca href=\"https://faculty.mdanderson.org/profiles/jason_westin.html\" target=\"_blank\" rel=\"noopener\">Jason Westin\u003c/a>, who leads the aggressive lymphoma team at MD Anderson Cancer Center and who was not involved in the new report. “But this CAR-T data is one of the most exciting things we’ve seen in cancer in forever. Having rare theoretical things that actually happen is concerning, but it should in no way temper the potential for the future of CAR-T cells.”\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>The study’s authors have discussed the case, which occurred about five years ago, at scientific meetings, helping to spread awareness. And the process of manufacturing CAR-Ts has improved over that time, reducing the chance that a cancer cell inadvertently receives the gene meant for immune cells.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>“We’re getting much better at getting a purer starting population” of immune cells, said \u003ca href=\"https://www.med.upenn.edu/apps/faculty/index.php/g20001883/p8587263\" target=\"_blank\" rel=\"noopener\">Jos Melenhorst\u003c/a>, an immunology expert at the University of Pennsylvania and one of the authors of the report.\u003c/p>\n\u003cp>The subject of the newly described case was a 20-year-old man with B cell acute lymphoblastic leukemia. He was participating in a Phase 1 clinical trial for a CAR-T product then called CTL019, which \u003ca href=\"https://www.pennmedicine.org/news/news-releases/2017/august/fda-approves-personalized-cellular-therapy-for-advanced-leukemia\" target=\"_blank\" rel=\"noopener\">was developed\u003c/a> by researchers at Penn and Children’s Hospital of Philadelphia.\u003c/p>\n\u003cp>As with any CAR-T patient, the man had immune cells called T cells scooped out from his blood through a process called apheresis. Then, those cells were supercharged with a gene that codes for a receptor (the CAR in CAR-T) that turns the cells into bloodhounds on the scent for a specific marker on cancer cells — in this case, a protein called CD19.\u003c/p>\n\u003cp>The patient was infused with a phalanx of the killer T cells, which then swarmed and annihilated the cancer cells. Within a month, his cancer seemed to be in complete remission, Melenhorst said.\u003c/p>\n\u003cp>But as researchers tracked the patient, they noticed something odd. They kept seeing signs of CAR-marked cells, but it wasn’t the body’s T cells expressing CAR anymore.\u003c/p>\n\u003cp>They ran a battery of experiments and confirmed their suspicions: a leukemic B cell had gotten lumped together with the T cells during the manufacturing process and had also taken up the CAR gene. As a result, the leukemia cell was expressing the CAR, which then attached to the CD19 markers, effectively shielding it from the CD19-sniffing machinery of the boosted T cells. It was as if in a game of musical chairs the targeted seat was already filled by the time the music stopped.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>“The CAR-T cell couldn’t bind to the CD19 molecule, and thereby it was essentially hiding in plain sight,” Melenhorst said.\u003c/p>\n\u003cp>As the T cells attacked the rest of the leukemia cells, this cell laid low for the most part, slowly proliferating into more resistant cancer cells over time. After about nine months, the patient’s cancer — now resistant to CAR-T — had fully returned. He ultimately died from complications from his leukemia.\u003c/p>\n\u003cp>Melenhorst noted that the case reaches back to the early days of clinical CAR-T use and that improvements in technology since then have allowed manufacturers to ensure that the cells into which they are introducing the CAR gene are less likely to include B cells.\u003c/p>\n\u003cp>A version of the treatment the patient received was \u003ca href=\"https://www.statnews.com/2017/08/30/novartis-car-t-cancer-approved/\" rel=\"noopener\">ultimately approved\u003c/a> as Novartis’s Kymriah in 2017; the paper published Monday includes some authors from Novartis Institutes for BioMedical Research. In a statement, Novartis noted that the manufacturing process used in the case described in the paper was done at Penn and differs from the company’s manufacturing process, which was used in later clinical trials and now for commercial use.\u003c/p>\n\u003cp>“We are not aware of any cases of this happening in the more than 400 patients treated with CTL019/Kymriah manufactured by Novartis for clinical trials or the commercial setting,” the statement said.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>The company said it has checks throughout the process to clear out B cells and that it is following Kymriah patients for 15 years.\u003c/p>\n\u003cp>“Novartis is continually making improvements to our Kymriah manufacturing process to reduce variability and safely deliver this transformational, personalized treatment to patients in need around the world,” the statement said.\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>\u003ci>\u003cspan style=\"font-weight: 400\">This \u003c/span>\u003c/i>\u003ca href=\"https://www.statnews.com/2018/10/01/car-t-resistance-cancer-cell-hiding/\" target=\"_blank\" rel=\"noopener\">\u003ci>\u003cspan style=\"font-weight: 400\">story\u003c/span>\u003c/i>\u003c/a>\u003ci>\u003cspan style=\"font-weight: 400\"> was originally published by STAT, an online publication of Boston Globe Media that covers health, medicine, and scientific discovery.\u003c/span>\u003c/i>\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/444751/in-rare-case-patient-developed-resistance-to-car-t","authors":["byline_futureofyou_444751"],"categories":["futureofyou_1060","futureofyou_1062","futureofyou_73"],"tags":["futureofyou_103","futureofyou_1470","futureofyou_190","futureofyou_61"],"collections":["futureofyou_1097","futureofyou_1094"],"featImg":"futureofyou_217336","label":"source_futureofyou_444751"},"futureofyou_444641":{"type":"posts","id":"futureofyou_444641","meta":{"index":"posts_1591205157","site":"futureofyou","id":"444641","score":null,"sort":[1538075041000]},"guestAuthors":[],"slug":"governments-decision-to-review-research-of-fetal-tissue-blasted-as-political-move","title":"Is the Federal Government Politicizing Research Involving Fetal Tissue?","publishDate":1538075041,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>\u003cstrong>Updated at 3:45 pm ET\u003c/strong>\u003c/p>\n\u003cp>The Department of Health and Human Services says it is reviewing all medical research involving human fetal tissue.\u003c/p>\n\u003cp>HHS \u003ca href=\"https://www.hhs.gov/about/news/2018/09/24/statement-from-the-department-of-health-and-human-services.html\" target=\"_blank\" rel=\"noopener\">said this week\u003c/a> that it will conduct an audit of \"all acquisitions involving human fetal tissue\" as well as \"all research involving fetal tissue to ensure consistency with statutes and regulations governing such research and to ensure the adequacy of procedures and oversight of this research in light of the serious regulatory, moral, and ethical considerations involved.\"[contextly_sidebar id=\"SsrZIxp3cgGelsMqmovjR5mXFrobSZOz\"]\u003c/p>\n\u003cp>In addition, HHS announced that it has canceled \u003ca href=\"https://www.fpds.gov/ezsearch/search.do?q=advanced+bioscience+resources+VENDOR_DUNS_NUMBER%3A%22786845982%22&s=FPDSNG.COM&templateName=1.4.4&indexName=awardfull&sortBy=SIGNED_DATE&desc=Y\" target=\"_blank\" rel=\"noopener\">a $15,000 contract\u003c/a> for a California-based company called Advanced Bioscience Resources to provide the Food and Drug Administration with human fetal tissue to develop testing protocols. The contract was terminated, HHS said, because the department \"was not sufficiently assured that the contract included the appropriate protections applicable to fetal tissue research or met all other procurement requirements.\"\u003c/p>\n\u003cp>Scientists use fetal tissue in medical research because it grows quickly and is highly versatile and long-lasting.\u003c/p>\n\u003cp>\"It allows us to answer specific questions that can't be answered by adult tissue, which is far more specialized,\"\u003c/p>\n\u003cp>NIH Associate Director for Science Policy Carrie Wolinetz \u003ca href=\"https://www.npr.org/sections/health-shots/2015/09/29/444214443/research-on-fetal-tissue-draws-renewed-political-scientific-scrutiny\" target=\"_blank\" rel=\"noopener\">told NPR's Rob Stein\u003c/a> in 2015. \"Fetal tissue can contain information — about structural features, or the architecture of organs — that cells in a dish alone can't provide. And this is sometimes very important to our understanding of disease.\"\u003c/p>\n\u003cp>Fetal tissue used in scientific research often comes from aborted fetuses. In an email to NPR, \u003ca href=\"https://law.wisc.edu/profiles/racharo\" target=\"_blank\" rel=\"noopener\">Alta Charo\u003c/a>, a professor of law and bioethics at the University of Wisconsin, explains why that is.[contextly_sidebar id=\"G1kyrCYVpzDmWCInUE7H0cF8gc9zn4Ce\"]\u003c/p>\n\u003cp>\"Miscarriages are not often an available source, as they do not take place in a controlled environment and may be due to genetic or other anomalies that would render the cadaveric tissues useless,\" she says. \"Therefore, the tissue usually comes from a fetus that has been aborted.\"\u003c/p>\n\u003cp>Despite the small size of the canceled FDA contract, some observers said the larger political symbolism is evident.\u003c/p>\n\u003cp>\"My instinct is that this is driven by politics, and is part of the overall effort to stigmatize and eventually criminalize abortion, as well as part of a larger campaign to roll-back the clock on sexual and reproductive rights,\" Charo says.\u003c/p>\n\u003cp>However, \u003ca href=\"https://lozierinstitute.org/team-member/david-prentice/\" target=\"_blank\" rel=\"noopener\">David Prentice\u003c/a>, vice president and research director for the Charlotte Lozier Institute, a conservative think tank opposed to abortion, says the HHS announcement doesn't go far enough.\u003c/p>\n\u003cp>\"Canceling a small FDA contract ... seems designed to mollify some Members of Congress and groups who were outraged by the continuing funding of fetal tissue research with taxpayer dollars,\" Prentice writes in an email to NPR. \"But what's needed is wholesale reform across the breadth of HHS. Use of fetal tissue is antiquated research, and [HHS Secretary Alex] Azar should redirect those funds to modern science and better alternatives, including adult stem cells.\"\u003c/p>\n\u003cp>\u003cem>Science\u003c/em> notes that on earlier this month, 45 groups opposed to abortion \u003ca href=\"https://www.sba-list.org/wp-content/uploads/2018/09/Group-Letter-to-Azar-FDA-and-fetal-tissue-FINAL-with-Signatures.pdf\" target=\"_blank\" rel=\"noopener\">sent a letter\u003c/a> to Azar calling the FDA contract for fetal tissue \"shocking\" and \"unacceptable.\" A few days later, 85 members of Congress \u003ca href=\"https://chrissmith.house.gov/uploadedfiles/2018-09-17_-chs-hartzler-walker_letter_on_fda_fetal_tissue_contract.pdf\" target=\"_blank\" rel=\"noopener\">sent a letter\u003c/a> to the FDA's commissioner, urging the agency to cancel the contract.\u003c/p>\n\u003cp>The National Institutes of Health, which also falls under HHS, spent $98 million last fiscal year on research that involved human fetal tissue. The NIH said it \"concurs that it is important that research involving human fetal tissue should be consistent with the statutes and regulation governing such research and that it is important to have adequate procedures for oversight.\"[contextly_sidebar id=\"xJs8IF14XoPynhHrniTrS5E5qgAhyVmm\"]\u003c/p>\n\u003cp>Use of fetal tissue in research has been controversial for some time, \u003cem>Science\u003c/em> magazine reported on Tuesday:\u003c/p>\n\u003cblockquote>\u003cp>\"In 2016, \u003ca href=\"https://energycommerce.house.gov/news/press-release/house-creates-select-panel-investigate-handling-infant-lives/\" target=\"_blank\" rel=\"noopener\">Republican members of the House of Representatives\u003c/a>, led by Representative Marsha Blackburn (TN), \u003ca href=\"https://www.sciencemag.org/news/2017/01/fact-checking-congress-s-fetal-tissue-report\">produced a report\u003c/a> that urged the federal government to transition to obtaining fetal tissue from miscarriages and stillbirths. But opponents of fetal tissue research have failed repeatedly to pass legislation that would end funding for research using tissue from electively aborted fetuses — most recently earlier this month, when language prohibiting such funding was stripped from a 2019 HHS spending bill.\"\u003c/p>\u003c/blockquote>\n\u003cp>\u003ca href=\"https://trentcenter.duke.edu/node/221\" target=\"_blank\" rel=\"noopener\">Ross McKinney\u003c/a>, chief scientific officer at the Association of American Medical Colleges, says fetal tissue was key in the development of major medical advances such as vaccines for polio, rubella, measles, chickenpox, adenovirus and rabies, as well as treatments for diseases such as rheumatoid arthritis, cystic fibrosis and hemophilia.\u003c/p>\n\u003cp>\"The unique characteristics of this tissue are essential to the study of fetal diseases, like those caused by Zika virus, and hold promise for advancing biomedical research in other areas as well, bringing hope to patients struggling with diseases such as Alzheimer's, Parkinson's, and multiple sclerosis,\" he writes in an email to NPR.\u003c/p>\n\u003cp>\"Fetal tissue continues to be an important resource for biomedical research, and the Association of American Medical Colleges fully supports its availability as one of the scientific methods that could save and improve lives.\"[contextly_sidebar id=\"GY9wMG5EY8EjMrFWoS2AArgcQmiE5UTu\"]\u003c/p>\n\u003cp>During \u003ca href=\"https://www.npr.org/2016/01/28/464594826/in-wake-of-videos-planned-parenthood-investigations-find-no-fetal-tissue-sales\" target=\"_blank\" rel=\"noopener\">a 2015 brouhaha\u003c/a>, the Obama-era HHS \u003ca href=\"https://www.plannedparenthood.org/files/3514/4709/3497/HHS_Letter_2015_08_14_-_FT_Research.pdf\" target=\"_blank\" rel=\"noopener\">sent a letter\u003c/a> to two Republican senators calling the use of fetal tissue in medical research \"an instrumental component of our attempts to understand, treat, and cure a number of conditions and diseases that affect millions of Americans,\" noting that scientists in the U.S. have been working with fetal tissue \u003ca href=\"https://fas.org/sgp/crs/misc/R44129.pdf\" target=\"_blank\" rel=\"noopener\">since the 1930s\u003c/a>.\u003c/p>\n\u003cp>\u003cem>NPR science correspondent Rob Stein contributed to this report.\u003c/em>\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2018 NPR. To see more, visit http://www.npr.org/.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=Health+And+Human+Services+Says+It%27s+Reviewing+Use+Of+Fetal+Tissue+For+Research&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>\u003c/p>\n","blocks":[],"excerpt":"The audit has been called a political gesture to placate anti-abortion groups that oppose use of the tissue. Fetal tissue has played a part in developing vaccines and medical treatments.","status":"publish","parent":0,"modified":1538075106,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":24,"wordCount":917},"headData":{"title":"Is the Federal Government Politicizing Research Involving Fetal Tissue? | KQED","description":"The audit has been called a political gesture to placate anti-abortion groups that oppose use of the tissue. Fetal tissue has played a part in developing vaccines and medical treatments.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"444641 https://ww2.kqed.org/futureofyou/?p=444641","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/09/27/governments-decision-to-review-research-of-fetal-tissue-blasted-as-political-move/","disqusTitle":"Is the Federal Government Politicizing Research Involving Fetal Tissue?","source":"Health","nprImageCredit":"Chip Somodevilla","nprByline":"Laurel Wamsley, NPR","nprImageAgency":"Getty Images","nprStoryId":"651838889","nprApiLink":"http://api.npr.org/query?id=651838889&apiKey=MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004","nprHtmlLink":"https://www.npr.org/2018/09/26/651838889/health-and-human-services-says-its-reviewing-use-of-fetal-tissue-for-research?ft=nprml&f=651838889","nprRetrievedStory":"1","nprPubDate":"Wed, 26 Sep 2018 16:17:00 -0400","nprStoryDate":"Wed, 26 Sep 2018 15:12:00 -0400","nprLastModifiedDate":"Wed, 26 Sep 2018 16:18:07 -0400","path":"/futureofyou/444641/governments-decision-to-review-research-of-fetal-tissue-blasted-as-political-move","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003cstrong>Updated at 3:45 pm ET\u003c/strong>\u003c/p>\n\u003cp>The Department of Health and Human Services says it is reviewing all medical research involving human fetal tissue.\u003c/p>\n\u003cp>HHS \u003ca href=\"https://www.hhs.gov/about/news/2018/09/24/statement-from-the-department-of-health-and-human-services.html\" target=\"_blank\" rel=\"noopener\">said this week\u003c/a> that it will conduct an audit of \"all acquisitions involving human fetal tissue\" as well as \"all research involving fetal tissue to ensure consistency with statutes and regulations governing such research and to ensure the adequacy of procedures and oversight of this research in light of the serious regulatory, moral, and ethical considerations involved.\"\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>In addition, HHS announced that it has canceled \u003ca href=\"https://www.fpds.gov/ezsearch/search.do?q=advanced+bioscience+resources+VENDOR_DUNS_NUMBER%3A%22786845982%22&s=FPDSNG.COM&templateName=1.4.4&indexName=awardfull&sortBy=SIGNED_DATE&desc=Y\" target=\"_blank\" rel=\"noopener\">a $15,000 contract\u003c/a> for a California-based company called Advanced Bioscience Resources to provide the Food and Drug Administration with human fetal tissue to develop testing protocols. The contract was terminated, HHS said, because the department \"was not sufficiently assured that the contract included the appropriate protections applicable to fetal tissue research or met all other procurement requirements.\"\u003c/p>\n\u003cp>Scientists use fetal tissue in medical research because it grows quickly and is highly versatile and long-lasting.\u003c/p>\n\u003cp>\"It allows us to answer specific questions that can't be answered by adult tissue, which is far more specialized,\"\u003c/p>\n\u003cp>NIH Associate Director for Science Policy Carrie Wolinetz \u003ca href=\"https://www.npr.org/sections/health-shots/2015/09/29/444214443/research-on-fetal-tissue-draws-renewed-political-scientific-scrutiny\" target=\"_blank\" rel=\"noopener\">told NPR's Rob Stein\u003c/a> in 2015. \"Fetal tissue can contain information — about structural features, or the architecture of organs — that cells in a dish alone can't provide. And this is sometimes very important to our understanding of disease.\"\u003c/p>\n\u003cp>Fetal tissue used in scientific research often comes from aborted fetuses. In an email to NPR, \u003ca href=\"https://law.wisc.edu/profiles/racharo\" target=\"_blank\" rel=\"noopener\">Alta Charo\u003c/a>, a professor of law and bioethics at the University of Wisconsin, explains why that is.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>\"Miscarriages are not often an available source, as they do not take place in a controlled environment and may be due to genetic or other anomalies that would render the cadaveric tissues useless,\" she says. \"Therefore, the tissue usually comes from a fetus that has been aborted.\"\u003c/p>\n\u003cp>Despite the small size of the canceled FDA contract, some observers said the larger political symbolism is evident.\u003c/p>\n\u003cp>\"My instinct is that this is driven by politics, and is part of the overall effort to stigmatize and eventually criminalize abortion, as well as part of a larger campaign to roll-back the clock on sexual and reproductive rights,\" Charo says.\u003c/p>\n\u003cp>However, \u003ca href=\"https://lozierinstitute.org/team-member/david-prentice/\" target=\"_blank\" rel=\"noopener\">David Prentice\u003c/a>, vice president and research director for the Charlotte Lozier Institute, a conservative think tank opposed to abortion, says the HHS announcement doesn't go far enough.\u003c/p>\n\u003cp>\"Canceling a small FDA contract ... seems designed to mollify some Members of Congress and groups who were outraged by the continuing funding of fetal tissue research with taxpayer dollars,\" Prentice writes in an email to NPR. \"But what's needed is wholesale reform across the breadth of HHS. Use of fetal tissue is antiquated research, and [HHS Secretary Alex] Azar should redirect those funds to modern science and better alternatives, including adult stem cells.\"\u003c/p>\n\u003cp>\u003cem>Science\u003c/em> notes that on earlier this month, 45 groups opposed to abortion \u003ca href=\"https://www.sba-list.org/wp-content/uploads/2018/09/Group-Letter-to-Azar-FDA-and-fetal-tissue-FINAL-with-Signatures.pdf\" target=\"_blank\" rel=\"noopener\">sent a letter\u003c/a> to Azar calling the FDA contract for fetal tissue \"shocking\" and \"unacceptable.\" A few days later, 85 members of Congress \u003ca href=\"https://chrissmith.house.gov/uploadedfiles/2018-09-17_-chs-hartzler-walker_letter_on_fda_fetal_tissue_contract.pdf\" target=\"_blank\" rel=\"noopener\">sent a letter\u003c/a> to the FDA's commissioner, urging the agency to cancel the contract.\u003c/p>\n\u003cp>The National Institutes of Health, which also falls under HHS, spent $98 million last fiscal year on research that involved human fetal tissue. The NIH said it \"concurs that it is important that research involving human fetal tissue should be consistent with the statutes and regulation governing such research and that it is important to have adequate procedures for oversight.\"\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>Use of fetal tissue in research has been controversial for some time, \u003cem>Science\u003c/em> magazine reported on Tuesday:\u003c/p>\n\u003cblockquote>\u003cp>\"In 2016, \u003ca href=\"https://energycommerce.house.gov/news/press-release/house-creates-select-panel-investigate-handling-infant-lives/\" target=\"_blank\" rel=\"noopener\">Republican members of the House of Representatives\u003c/a>, led by Representative Marsha Blackburn (TN), \u003ca href=\"https://www.sciencemag.org/news/2017/01/fact-checking-congress-s-fetal-tissue-report\">produced a report\u003c/a> that urged the federal government to transition to obtaining fetal tissue from miscarriages and stillbirths. But opponents of fetal tissue research have failed repeatedly to pass legislation that would end funding for research using tissue from electively aborted fetuses — most recently earlier this month, when language prohibiting such funding was stripped from a 2019 HHS spending bill.\"\u003c/p>\u003c/blockquote>\n\u003cp>\u003ca href=\"https://trentcenter.duke.edu/node/221\" target=\"_blank\" rel=\"noopener\">Ross McKinney\u003c/a>, chief scientific officer at the Association of American Medical Colleges, says fetal tissue was key in the development of major medical advances such as vaccines for polio, rubella, measles, chickenpox, adenovirus and rabies, as well as treatments for diseases such as rheumatoid arthritis, cystic fibrosis and hemophilia.\u003c/p>\n\u003cp>\"The unique characteristics of this tissue are essential to the study of fetal diseases, like those caused by Zika virus, and hold promise for advancing biomedical research in other areas as well, bringing hope to patients struggling with diseases such as Alzheimer's, Parkinson's, and multiple sclerosis,\" he writes in an email to NPR.\u003c/p>\n\u003cp>\"Fetal tissue continues to be an important resource for biomedical research, and the Association of American Medical Colleges fully supports its availability as one of the scientific methods that could save and improve lives.\"\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>During \u003ca href=\"https://www.npr.org/2016/01/28/464594826/in-wake-of-videos-planned-parenthood-investigations-find-no-fetal-tissue-sales\" target=\"_blank\" rel=\"noopener\">a 2015 brouhaha\u003c/a>, the Obama-era HHS \u003ca href=\"https://www.plannedparenthood.org/files/3514/4709/3497/HHS_Letter_2015_08_14_-_FT_Research.pdf\" target=\"_blank\" rel=\"noopener\">sent a letter\u003c/a> to two Republican senators calling the use of fetal tissue in medical research \"an instrumental component of our attempts to understand, treat, and cure a number of conditions and diseases that affect millions of Americans,\" noting that scientists in the U.S. have been working with fetal tissue \u003ca href=\"https://fas.org/sgp/crs/misc/R44129.pdf\" target=\"_blank\" rel=\"noopener\">since the 1930s\u003c/a>.\u003c/p>\n\u003cp>\u003cem>NPR science correspondent Rob Stein contributed to this report.\u003c/em>\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2018 NPR. To see more, visit http://www.npr.org/.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=Health+And+Human+Services+Says+It%27s+Reviewing+Use+Of+Fetal+Tissue+For+Research&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"fullwidth"},"numeric":["fullwidth"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003c/p>\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/444641/governments-decision-to-review-research-of-fetal-tissue-blasted-as-political-move","authors":["byline_futureofyou_444641"],"categories":["futureofyou_1","futureofyou_73","futureofyou_1064"],"tags":["futureofyou_342","futureofyou_1176","futureofyou_1615","futureofyou_294"],"collections":["futureofyou_1094"],"featImg":"futureofyou_444642","label":"source_futureofyou_444641"},"futureofyou_444281":{"type":"posts","id":"futureofyou_444281","meta":{"index":"posts_1591205157","site":"futureofyou","id":"444281","score":null,"sort":[1536178859000]},"guestAuthors":[],"slug":"historic-gene-editing-attempt-in-first-human-off-to-a-positive-start","title":"Historic Gene Editing Attempt in First Human Off to a Positive Start","publishDate":1536178859,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>Early, partial results from a historic gene editing study give encouraging signs that the treatment may be safe and having at least some of its hoped-for effect, but it’s too soon to know whether it ultimately will succeed.[contextly_sidebar id=\"nLB0LaskunDkFSzX8O5LVSxfj3Ayt7CZ\"]\u003c/p>\n\u003cp>The results announced Wednesday are from the first human \u003ca href=\"//mps2study.com/study-overview/?pn=\">test\u003c/a> of gene editing in the body, an attempt to permanently change someone’s DNA to cure a disease — in this case, a genetic disorder called \u003ca href=\"https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucopolysaccharidoses-Fact-Sheet\">Hunter syndrome\u003c/a> that often kills people in their teens.\u003c/p>\n\u003cp>In two patients who got a medium dose of the treatment, urine levels of large sugar compounds that are hallmarks of Hunter syndrome had fallen by half, on average, four months later — a possible sign the treatment is working. Two others who got a low dose have seen little change in these sugars so far.\u003c/p>\n\u003cp>There’s no way to know yet whether the change in the middle-dose patients is due to the gene editing or something else, but the fact their sugars have declined consistently since treatment suggests it might be.\u003c/p>\n\u003cp>“I cannot absolutely say it’s a treatment effect” but the drop is “really encouraging,” said the study leader, Dr. Joseph Muenzer of the University of North Carolina, Chapel Hill. The main goal of early treatment studies is to test safety, though researchers also look for hints that the therapy is working. Muenzer gave the results at a conference in Greece and consults for the treatment’s maker, California-based Sangamo Therapeutics.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>The company’s president, Dr. Sandy Macrae, said tests in about five months will reveal more, but the change in the middle-dose group so far “looks really good.”[contextly_sidebar id=\"FMPymRVSamCP4f8RpmzlwSdu0yioj0rt\"]\u003c/p>\n\u003cp>“The most rational explanation for this is that what we hoped was going to happen has happened,” he said.\u003c/p>\n\u003cp>Several independent experts agreed.\u003c/p>\n\u003cp>“The results are exciting” and suggest that the gene editing is working to some degree, without safety concerns so far, said Dr. Howard Kaufman, a Boston scientist and member of a National Institutes of Health panel that reviewed the study before it began.\u003c/p>\n\u003cp>Dr. Matthew Porteus, a genetics expert at Stanford University who consults for two other companies developing gene therapies, said more time is needed to see how the patients’ immune system continues to react to the treatment and whether the effects last, but added, “I would be excited about continuing to push along” based on these results.\u003c/p>\n\u003cp>\u003cstrong>How It Works\u003c/strong>\u003c/p>\n\u003cp>Gene editing is intended as a more precise way to do gene therapy, to knock out a bad gene or supply a good one that’s missing. Doctors hope it will give a way to address a host of diseases that can’t be treated well now.\u003c/p>\n\u003cp>In November, a Phoenix-area man with Hunter syndrome, Brian Madeux, became the first person to test this inside the body. He lacks a gene that makes an enzyme that breaks down certain large sugar compounds called GAGs. These build up in cells and cause havoc throughout the body.\u003c/p>\n\u003cp>Through an IV, Madeux received many copies of a corrective gene and a gene-editing tool called zinc finger nucleases to help put it in a precise spot in his DNA. He was one of the two patients given a very low dose of the treatment, because this first-in-human testing called for extreme caution.\u003c/p>\n\u003cp>\u003cstrong>Early Results\u003c/strong>\u003c/p>\n\u003cp>In Madeux and the other low-dose patient, levels of the tell-tale sugar compounds in urine rose 9 percent on average after four months. Muenzer said it’s hard to know whether this is a significant change; little is known about the biology of these compounds, including whether they fluctuate during the day or before or after meals.[contextly_sidebar id=\"g6IAb2xjtv0z0Te9cBhCwQAn8pi68Yxx\"]\u003c/p>\n\u003cp>A liver biopsy on one patient given a low dose of the therapy found no evidence that the gene editing had occurred, but Sangamo scientists said this dose is far below the level at which such signs had been detected in research on primates.\u003c/p>\n\u003cp>Two other patients were given a middle dose that was twice what the first two patients received. Their GAG levels declined by 51 percent after four months, on average. Two of the main types of these sugars that accumulate in tissues declined 32 percent and 61 percent, respectively.\u003c/p>\n\u003cp>It is not yet known if declines like these can improve patients’ health or slow the progression of the disease.\u003c/p>\n\u003cp>“This is not proof that this is a successful therapy yet, that these patients had enough gene editing to now supply them with the enzyme they need for the rest of their life,” Muenzer said.\u003c/p>\n\u003cp>But he said an important goal was met: the treatment seems safe. There were two serious side effects — one patient was hospitalized for bronchitis and another for an irregular heartbeat — but those were deemed due to their disease and pre-existing conditions, not the gene treatment.\u003c/p>\n\u003cp>Blood tests did not detect the missing enzyme. Company scientists said this could be because any that was being made was rapidly used by cells rather than getting into the bloodstream — an explanation some outside experts agreed with. What counts, they said, was seeing the result of enzyme activity, the drop in sugars.\u003c/p>\n\u003cp>\u003cstrong>Next Steps\u003c/strong>\u003c/p>\n\u003cp>Two more patients have been given the highest dose being tested — 10 times the starting dose — for a total of six patients in the study. The next step is to start taking patients off the weekly enzyme treatments they’ve been receiving to see if the gene therapy has changed their bodies so they make enough of the enzyme themselves.\u003c/p>\n\u003cp>More results are expected at a medical meeting in February.\u003c/p>\n\u003cp>“We need to see sustained levels for this to be practical. If this only works for six months, that’s not very beneficial,” Muenzer said. “Time’s going to tell.”\u003c/p>\n\u003cp>In an interview at his home in Arizona last month, Madeux, 45, told The Associated Press he volunteered for the study in hope of being able to stop the weekly, three-hour enzyme infusions, but also to help find a treatment for future generations with the disease.\u003c/p>\n\u003cp>“I’m old and having Hunter’s has done a lot of damage to my body,” Madeux said. “I’m actually pretty lucky I’ve lived this long.”\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp> \u003c/p>\n\n","blocks":[],"excerpt":"Partial results for gene editing study give promising signs that the treatment may be safe and have at least some of its hoped - for effect.","status":"publish","parent":0,"modified":1536177185,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":30,"wordCount":1104},"headData":{"title":"Historic Gene Editing Attempt in First Human Off to a Positive Start | KQED","description":"Partial results for gene editing study give promising signs that the treatment may be safe and have at least some of its hoped - for effect.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"444281 https://ww2.kqed.org/futureofyou/?p=444281","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/09/05/historic-gene-editing-attempt-in-first-human-off-to-a-positive-start/","disqusTitle":"Historic Gene Editing Attempt in First Human Off to a Positive Start","source":"Your Genes","nprByline":"Marilynn Marchione\u003cbr />The Associated Press","path":"/futureofyou/444281/historic-gene-editing-attempt-in-first-human-off-to-a-positive-start","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>Early, partial results from a historic gene editing study give encouraging signs that the treatment may be safe and having at least some of its hoped-for effect, but it’s too soon to know whether it ultimately will succeed.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>The results announced Wednesday are from the first human \u003ca href=\"//mps2study.com/study-overview/?pn=\">test\u003c/a> of gene editing in the body, an attempt to permanently change someone’s DNA to cure a disease — in this case, a genetic disorder called \u003ca href=\"https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucopolysaccharidoses-Fact-Sheet\">Hunter syndrome\u003c/a> that often kills people in their teens.\u003c/p>\n\u003cp>In two patients who got a medium dose of the treatment, urine levels of large sugar compounds that are hallmarks of Hunter syndrome had fallen by half, on average, four months later — a possible sign the treatment is working. Two others who got a low dose have seen little change in these sugars so far.\u003c/p>\n\u003cp>There’s no way to know yet whether the change in the middle-dose patients is due to the gene editing or something else, but the fact their sugars have declined consistently since treatment suggests it might be.\u003c/p>\n\u003cp>“I cannot absolutely say it’s a treatment effect” but the drop is “really encouraging,” said the study leader, Dr. Joseph Muenzer of the University of North Carolina, Chapel Hill. The main goal of early treatment studies is to test safety, though researchers also look for hints that the therapy is working. Muenzer gave the results at a conference in Greece and consults for the treatment’s maker, California-based Sangamo Therapeutics.\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>The company’s president, Dr. Sandy Macrae, said tests in about five months will reveal more, but the change in the middle-dose group so far “looks really good.”\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>“The most rational explanation for this is that what we hoped was going to happen has happened,” he said.\u003c/p>\n\u003cp>Several independent experts agreed.\u003c/p>\n\u003cp>“The results are exciting” and suggest that the gene editing is working to some degree, without safety concerns so far, said Dr. Howard Kaufman, a Boston scientist and member of a National Institutes of Health panel that reviewed the study before it began.\u003c/p>\n\u003cp>Dr. Matthew Porteus, a genetics expert at Stanford University who consults for two other companies developing gene therapies, said more time is needed to see how the patients’ immune system continues to react to the treatment and whether the effects last, but added, “I would be excited about continuing to push along” based on these results.\u003c/p>\n\u003cp>\u003cstrong>How It Works\u003c/strong>\u003c/p>\n\u003cp>Gene editing is intended as a more precise way to do gene therapy, to knock out a bad gene or supply a good one that’s missing. Doctors hope it will give a way to address a host of diseases that can’t be treated well now.\u003c/p>\n\u003cp>In November, a Phoenix-area man with Hunter syndrome, Brian Madeux, became the first person to test this inside the body. He lacks a gene that makes an enzyme that breaks down certain large sugar compounds called GAGs. These build up in cells and cause havoc throughout the body.\u003c/p>\n\u003cp>Through an IV, Madeux received many copies of a corrective gene and a gene-editing tool called zinc finger nucleases to help put it in a precise spot in his DNA. He was one of the two patients given a very low dose of the treatment, because this first-in-human testing called for extreme caution.\u003c/p>\n\u003cp>\u003cstrong>Early Results\u003c/strong>\u003c/p>\n\u003cp>In Madeux and the other low-dose patient, levels of the tell-tale sugar compounds in urine rose 9 percent on average after four months. Muenzer said it’s hard to know whether this is a significant change; little is known about the biology of these compounds, including whether they fluctuate during the day or before or after meals.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>A liver biopsy on one patient given a low dose of the therapy found no evidence that the gene editing had occurred, but Sangamo scientists said this dose is far below the level at which such signs had been detected in research on primates.\u003c/p>\n\u003cp>Two other patients were given a middle dose that was twice what the first two patients received. Their GAG levels declined by 51 percent after four months, on average. Two of the main types of these sugars that accumulate in tissues declined 32 percent and 61 percent, respectively.\u003c/p>\n\u003cp>It is not yet known if declines like these can improve patients’ health or slow the progression of the disease.\u003c/p>\n\u003cp>“This is not proof that this is a successful therapy yet, that these patients had enough gene editing to now supply them with the enzyme they need for the rest of their life,” Muenzer said.\u003c/p>\n\u003cp>But he said an important goal was met: the treatment seems safe. There were two serious side effects — one patient was hospitalized for bronchitis and another for an irregular heartbeat — but those were deemed due to their disease and pre-existing conditions, not the gene treatment.\u003c/p>\n\u003cp>Blood tests did not detect the missing enzyme. Company scientists said this could be because any that was being made was rapidly used by cells rather than getting into the bloodstream — an explanation some outside experts agreed with. What counts, they said, was seeing the result of enzyme activity, the drop in sugars.\u003c/p>\n\u003cp>\u003cstrong>Next Steps\u003c/strong>\u003c/p>\n\u003cp>Two more patients have been given the highest dose being tested — 10 times the starting dose — for a total of six patients in the study. The next step is to start taking patients off the weekly enzyme treatments they’ve been receiving to see if the gene therapy has changed their bodies so they make enough of the enzyme themselves.\u003c/p>\n\u003cp>More results are expected at a medical meeting in February.\u003c/p>\n\u003cp>“We need to see sustained levels for this to be practical. If this only works for six months, that’s not very beneficial,” Muenzer said. “Time’s going to tell.”\u003c/p>\n\u003cp>In an interview at his home in Arizona last month, Madeux, 45, told The Associated Press he volunteered for the study in hope of being able to stop the weekly, three-hour enzyme infusions, but also to help find a treatment for future generations with the disease.\u003c/p>\n\u003cp>“I’m old and having Hunter’s has done a lot of damage to my body,” Madeux said. “I’m actually pretty lucky I’ve lived this long.”\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> \u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/444281/historic-gene-editing-attempt-in-first-human-off-to-a-positive-start","authors":["byline_futureofyou_444281"],"categories":["futureofyou_1062","futureofyou_1","futureofyou_73","futureofyou_1064"],"tags":["futureofyou_647","futureofyou_103","futureofyou_295"],"collections":["futureofyou_1097","futureofyou_1094"],"featImg":"futureofyou_444292","label":"source_futureofyou_444281"},"futureofyou_443977":{"type":"posts","id":"futureofyou_443977","meta":{"index":"posts_1591205157","site":"futureofyou","id":"443977","score":null,"sort":[1534348813000]},"guestAuthors":[],"slug":"multi-gene-test-may-find-risk-for-heart-disease-and-more","title":"Multi-Gene Test May Find Risk for Heart Disease and More","publishDate":1534348813,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>You know your cholesterol, your blood pressure ... your heart gene score? Researchers say a new way of analyzing genetic test data may one day help identify people at high risk of a youthful heart attack in time to help.\u003c/p>\n\u003cp>Today, gene testing mostly focuses on rare mutations in one or a few genes, like those that cause cystic fibrosis or sickle cell disease, or the BRCA gene responsible for a small fraction of breast cancer. It is less useful for some of the most common diseases, such as heart disease or diabetes, because they are influenced by vast numbers of genes-gone-wrong working together in complicated ways.\u003c/p>\n\u003cp>Monday, researchers reported a new way to measure millions of small genetic variations that add up to cause harm, letting them calculate someone’s inherited risk for the most common form of heart disease and four other serious disorders. The potential cardiac impact: They estimated that up to 25 million Americans may have triple the average person’s risk for coronary artery disease even if they haven’t yet developed warning signs like high cholesterol.\u003c/p>\n\u003cp>“What I foresee is in five years, each person will know this risk number, this ‘polygenic risk score,’ similar to the way each person knows his or her cholesterol,” said Dr. Sekar Kathiresan who led the research team from the Broad Institute, Massachusetts General Hospital and Harvard Medical School.\u003c/p>\n\u003cp>If the approach pans out and doctors adopt it, a bad score wouldn’t mean you’d get a disease, just that your genetic makeup increases the chance — one more piece of information in deciding care. For example, when the researchers tested the system using a DNA database from Britain, less than 1 percent of people with the lowest risk scores were diagnosed with coronary artery disease, compared to 11 percent of people with the highest risk score.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>“There are things you can do to lower the risk,” Kathiresan said — the usual advice about diet, exercise, cholesterol medication and not smoking helps.\u003c/p>\n\u003cp>On the flip side, a low-risk score “doesn’t give you a free pass,” he added. An unhealthy lifestyle could overwhelm the protection of good genes.\u003c/p>\n\u003cp>The scoring system also can predict an increased risk of Type 2 diabetes, inflammatory bowel disease, breast cancer and an irregular heartbeat called atrial fibrillation, the team reported in the journal Nature Genetics — noting that next steps include learning what might likewise lower those risks.\u003c/p>\n\u003cp>It doesn’t require the most sophisticated type of genetic testing. Instead, Kathiresan can calculate risk scores for those five diseases — eventually maybe more — simply by reanalyzing the kind of raw data people receive after sending a cheek swab to companies like 23andMe.\u003c/p>\n\u003cp>A geneticist who specializes in cardiovascular disease, he hopes to open a website where people can send in such data to learn their heart risk, as part of continuing research. Kathiresan and co-author Dr. Amit Khera, a Mass General cardiologist, are co-inventors on a patent application for the system.\u003c/p>\n\u003cp>Other scientists and companies have long sought ways to measure risk from multiple, additive gene effects — the “poly” in polygenic — and Myriad Genetics has begun selling a type of polygenic test for breast cancer risk.\u003c/p>\n\u003cp>But specialists in heart disease and genetics who weren’t involved with the research called the new findings exciting because of their scope.\u003c/p>\n\u003cp>“The results should be eye-opening for cardiologists,” said Dr. Charles C. Hong, director of cardiovascular research at the University of Maryland School of Medicine. “The only disappointment is that this score applies only to those with European ancestry, so I wonder if similar scores are in the works for the large majority of the world population that is not white.”\u003c/p>\n\u003cp>Hong pointed to a friend who recently died of a massive heart attack despite being a super-fit marathon runner who’d never smoked, the kind of puzzling death that doctors have long hoped that a better understanding of genetics could help to prevent.\u003c/p>\n\u003cp>“Most of the variation in disease risk comes from an enormous number of very tiny effects” in genes, agreed Stanford University genetics professor Jonathan Pritchard. “This is the first time polygenic scores have really been shown to reach the level of precision where they can have an impact” on patient health.\u003c/p>\n\u003cp>First, the Boston-based team combed previous studies that mapped the DNA of large numbers of people, looking for links to the five diseases — not outright mutations but minor misspellings in the genetic code.\u003c/p>\n\u003cp>Each variation alone would have only a tiny effect on health. They developed a computerized system that analyzed how those effects add up, and tested it using DNA and medical records from 400,000 people stored in Britain’s UK Biobank. Scores more than three times the average person’s risk were deemed high.\u003c/p>\n\u003cp>___\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>The Associated Press Health & Science Department receives \u003ca href=\"http://bit.ly/2G0n9w6\">support\u003c/a> from the Howard Hughes Medical Institute’s Department of Science Education. The AP is solely responsible for all content.\u003c/p>\n\n","blocks":[],"excerpt":"Researchers have reported a new way to measure millions of small genetic variations that add up to cause harm.","status":"publish","parent":0,"modified":1534320042,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":21,"wordCount":873},"headData":{"title":"Multi-Gene Test May Find Risk for Heart Disease and More | KQED","description":"Researchers have reported a new way to measure millions of small genetic variations that add up to cause harm.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"443977 https://ww2.kqed.org/futureofyou/?p=443977","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/08/15/multi-gene-test-may-find-risk-for-heart-disease-and-more/","disqusTitle":"Multi-Gene Test May Find Risk for Heart Disease and More","source":"Health","nprByline":"Lauran Neergaard\u003cbr />The Associated Press","path":"/futureofyou/443977/multi-gene-test-may-find-risk-for-heart-disease-and-more","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>You know your cholesterol, your blood pressure ... your heart gene score? Researchers say a new way of analyzing genetic test data may one day help identify people at high risk of a youthful heart attack in time to help.\u003c/p>\n\u003cp>Today, gene testing mostly focuses on rare mutations in one or a few genes, like those that cause cystic fibrosis or sickle cell disease, or the BRCA gene responsible for a small fraction of breast cancer. It is less useful for some of the most common diseases, such as heart disease or diabetes, because they are influenced by vast numbers of genes-gone-wrong working together in complicated ways.\u003c/p>\n\u003cp>Monday, researchers reported a new way to measure millions of small genetic variations that add up to cause harm, letting them calculate someone’s inherited risk for the most common form of heart disease and four other serious disorders. The potential cardiac impact: They estimated that up to 25 million Americans may have triple the average person’s risk for coronary artery disease even if they haven’t yet developed warning signs like high cholesterol.\u003c/p>\n\u003cp>“What I foresee is in five years, each person will know this risk number, this ‘polygenic risk score,’ similar to the way each person knows his or her cholesterol,” said Dr. Sekar Kathiresan who led the research team from the Broad Institute, Massachusetts General Hospital and Harvard Medical School.\u003c/p>\n\u003cp>If the approach pans out and doctors adopt it, a bad score wouldn’t mean you’d get a disease, just that your genetic makeup increases the chance — one more piece of information in deciding care. For example, when the researchers tested the system using a DNA database from Britain, less than 1 percent of people with the lowest risk scores were diagnosed with coronary artery disease, compared to 11 percent of people with the highest risk score.\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>“There are things you can do to lower the risk,” Kathiresan said — the usual advice about diet, exercise, cholesterol medication and not smoking helps.\u003c/p>\n\u003cp>On the flip side, a low-risk score “doesn’t give you a free pass,” he added. An unhealthy lifestyle could overwhelm the protection of good genes.\u003c/p>\n\u003cp>The scoring system also can predict an increased risk of Type 2 diabetes, inflammatory bowel disease, breast cancer and an irregular heartbeat called atrial fibrillation, the team reported in the journal Nature Genetics — noting that next steps include learning what might likewise lower those risks.\u003c/p>\n\u003cp>It doesn’t require the most sophisticated type of genetic testing. Instead, Kathiresan can calculate risk scores for those five diseases — eventually maybe more — simply by reanalyzing the kind of raw data people receive after sending a cheek swab to companies like 23andMe.\u003c/p>\n\u003cp>A geneticist who specializes in cardiovascular disease, he hopes to open a website where people can send in such data to learn their heart risk, as part of continuing research. Kathiresan and co-author Dr. Amit Khera, a Mass General cardiologist, are co-inventors on a patent application for the system.\u003c/p>\n\u003cp>Other scientists and companies have long sought ways to measure risk from multiple, additive gene effects — the “poly” in polygenic — and Myriad Genetics has begun selling a type of polygenic test for breast cancer risk.\u003c/p>\n\u003cp>But specialists in heart disease and genetics who weren’t involved with the research called the new findings exciting because of their scope.\u003c/p>\n\u003cp>“The results should be eye-opening for cardiologists,” said Dr. Charles C. Hong, director of cardiovascular research at the University of Maryland School of Medicine. “The only disappointment is that this score applies only to those with European ancestry, so I wonder if similar scores are in the works for the large majority of the world population that is not white.”\u003c/p>\n\u003cp>Hong pointed to a friend who recently died of a massive heart attack despite being a super-fit marathon runner who’d never smoked, the kind of puzzling death that doctors have long hoped that a better understanding of genetics could help to prevent.\u003c/p>\n\u003cp>“Most of the variation in disease risk comes from an enormous number of very tiny effects” in genes, agreed Stanford University genetics professor Jonathan Pritchard. “This is the first time polygenic scores have really been shown to reach the level of precision where they can have an impact” on patient health.\u003c/p>\n\u003cp>First, the Boston-based team combed previous studies that mapped the DNA of large numbers of people, looking for links to the five diseases — not outright mutations but minor misspellings in the genetic code.\u003c/p>\n\u003cp>Each variation alone would have only a tiny effect on health. They developed a computerized system that analyzed how those effects add up, and tested it using DNA and medical records from 400,000 people stored in Britain’s UK Biobank. Scores more than three times the average person’s risk were deemed high.\u003c/p>\n\u003cp>___\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>The Associated Press Health & Science Department receives \u003ca href=\"http://bit.ly/2G0n9w6\">support\u003c/a> from the Howard Hughes Medical Institute’s Department of Science Education. The AP is solely responsible for all content.\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/443977/multi-gene-test-may-find-risk-for-heart-disease-and-more","authors":["byline_futureofyou_443977"],"categories":["futureofyou_1060","futureofyou_1064"],"tags":["futureofyou_17","futureofyou_324","futureofyou_61","futureofyou_279"],"collections":["futureofyou_1093","futureofyou_1094"],"featImg":"futureofyou_443979","label":"source_futureofyou_443977"},"futureofyou_443905":{"type":"posts","id":"futureofyou_443905","meta":{"index":"posts_1591205157","site":"futureofyou","id":"443905","score":null,"sort":[1534183257000]},"guestAuthors":[],"slug":"ambitious-human-cell-atlas-aims-to-catalog-every-type-of-cell-in-the-body","title":"Ambitious 'Human Cell Atlas' Aims To Catalog Every Type Of Cell In The Body","publishDate":1534183257,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>\u003ca href=\"https://visitor.r20.constantcontact.com/manage/optin?v=001_E1ee4Kj9gBjf5py2sBtL-47gyrIXV_gSD2QylhrTvks5INjcehh4OTbt1TnUgDKomnPSWBQ3lm4NYbUJBMek2yviIHXnKVAOLjoUMMieTvSjNjB63IqMh9YG026R7gmdK7rGtkm55RtE4gOjB5EGZnCEwptndWGLAvuVLQh3c909XJSbGPjZKFTBuYqcp7rsrwCn4BxH6wH3dUKrBAiCQ%3D%3D\" target=\"_blank\" rel=\"noopener\">\u003cem>Sign up for the CommonHealth newsletter\u003c/em>\u003c/a>\u003cem> to receive a weekly digest of WBUR's best health, medicine and science coverage.\u003c/em>\u003c/p>\n\u003cp>If you flip open a biology textbook or do a quick \u003ca href=\"https://www.google.com/search?q=how+many+cell+types+in+the+human+body&oq=how+many+cell+types+in+the+human+body&aqs=chrome..69i57j0l5.6903j0j8&sourceid=chrome&ie=UTF-8\" target=\"_blank\" rel=\"noopener\">search\u003c/a> on Google, you'll quickly learn that there are a few hundred types of cells in the human body.\u003c/p>\n\u003cp>\"And it's true, because in broad categories, a few hundred is a good characterization,\" says \u003ca href=\"https://biology.mit.edu/profile/aviv-regev/\" target=\"_blank\" rel=\"noopener\">Aviv Regev\u003c/a>, a core member of the Broad Institute, a genetics research center in Cambridge, Mass.\u003c/p>\n\u003cp>But look a little closer, as Regev has been doing, and a far more complicated picture emerges.\u003c/p>\n\u003cp>\"No one really knows how many there will be,\" she says. Immunologists had already counted more than 300 in the immune system alone. The eye's retina, other research showed, has more than 100. How many in the whole body? Regev won't even try to predict.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>\"People guess anything from the thousands to the tens of thousands. I'm not guessing,\" she says. \"I would rather actually get the measurements done and have a precise answer.\"\u003c/p>\n\u003cp>For the last two years Regev, a professor of biology at MIT, has been co-leading a massive international effort to get that answer. Called the \u003ca href=\"https://www.humancellatlas.org/\" target=\"_blank\" rel=\"noopener\">Human Cell Atlas Consortium\u003c/a>, the effort aims to account for and better understand every cell type and sub-type, and how they interact.\u003c/p>\n\u003cp>The Human Cell Atlas has received less attention than the $3 billion \u003ca href=\"https://www.genome.gov/10001772/all-about-the--human-genome-project-hgp/\" target=\"_blank\" rel=\"noopener\">Human Genome Project\u003c/a>, which was completed in 2003 after 15 years of work. But it's equally ambitious.\u003c/p>\n\u003cp>Regev's co-chair, \u003ca href=\"https://www.sanger.ac.uk/people/directory/teichmann-sarah\" target=\"_blank\" rel=\"noopener\">Sarah Teichmann\u003c/a>, uses Legos as a metaphor for their quest.\u003c/p>\n\u003cp>\"It's kind of like we're trying to find out what are all the different colors of Lego building blocks that we have in our bodies,\" Teichmann says. \"We're trying to find out how those building blocks — how those Lego parts — fit together in three dimensions within each tissue.\"\u003c/p>\n\u003cp>Looking at all those building blocks, Teichmann and Regev say, will offer many new insights into how the body works and what goes wrong in disease.\u003c/p>\n\u003cp>Regev and colleagues at Massachusetts General Hospital published t\u003ca href=\"https://www.nature.com/articles/s41586-018-0393-7\" target=\"_blank\" rel=\"noopener\">heir first major Human Cell Atlas\u003c/a> finding earlier this month in the journal \u003cem>Nature\u003c/em>. Working first in mice and then human tissue, they discovered that the lining of the windpipe — the tube that connects the throat and lungs — has seven cell types instead of the expected six.\u003c/p>\n\u003cp>And that new type of cell could prove crucial for understanding and eventually developing a cure for \u003ca href=\"https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/\" target=\"_blank\" rel=\"noopener\">cystic fibrosis\u003c/a>.\u003c/p>\n\u003cp>Researchers had believed that the disease was caused by a faulty protein made by a common cell in the windpipe's lining. But instead, the Broad-MGH team discovered that the bad protein is made in this rare, seventh cell type, which they named a pulmonary ionocyte.\u003c/p>\n\u003cp>The difference sounds small, but it could save years of wasted research effort trying to repair the wrong cell.\u003c/p>\n\u003cp>\"It sort of changes the problem,\" says \u003ca href=\"https://hsci.harvard.edu/people/jayaraj-rajagopal-md\" target=\"_blank\" rel=\"noopener\">Dr. Jay Rajagopal\u003c/a> of MGH and the Harvard Stem Cell Institute, who helped lead the windpipe work. Another team of researchers, led by \u003ca href=\"https://klein.hms.harvard.edu/people/allon-klein\" target=\"_blank\" rel=\"noopener\">Allon Klein \u003c/a>from Harvard Medical School and \u003ca href=\"https://www.novartis.com/our-science/postdoc-program/leadership/aron-b-jaffe-phd\" target=\"_blank\" rel=\"noopener\">Aron B. Jaffe\u003c/a> from the Novartis Institutes for BioMedical Research in Cambridge, \u003ca href=\"https://www.nature.com/articles/s41586-018-0394-6\" target=\"_blank\" rel=\"noopener\">confirmed the finding\u003c/a> in a separate \u003cem>Nature \u003c/em>paper.\u003c/p>\n\u003cp>Even without knowing about this seventh cell type, scientists have been able to develop drugs that have given cystic fibrosis patients hope of living into middle age. \"The progress has been amazing,\" Rajagopal says.\u003c/p>\n\u003cp>However, while the drugs treat the disease they can't cure it. A cure, Rajagopal says, will require targeting the precise cell where the faulty protein is made.\u003c/p>\n\u003cp>\"Now that we have this new piece of the puzzle I think it will direct research that much more,\" he says.\u003c/p>\n\u003cp>In another new paper related to the atlas, British researchers reported Friday in the journal \u003ca href=\"http://science.sciencemag.org/content/361/6402/594\" target=\"_blank\" rel=\"noopener\">Science\u003c/a> that kidney cancer in children starts in different cell types than kidney cancer in adults.\u003c/p>\n\u003cp>One of the technological advances that enabled the Human Cell Atlas came in 2014, when Regev and colleagues at Harvard — Steve McCarroll and David Weitz — made improvements to a technology called single-cell RNA sequencing, which reads the RNA in each cell to see which genes are active and identifies different cell types.\u003c/p>\n\u003cp>\"All of a sudden, we moved from something that was very laborious and we could do maybe a few dozen or a few hundred, to something where we could do many, many thousands in a 15- to 20-minute experiment,\" Regev says. \"We said, 'That's at the right scale that we could actually do the human body.' \"\u003c/p>\n\u003cp>Regev and Teichmann, head of cellular genetics at the Wellcome Sanger Institute in the United Kingdom, formed the Human Cell Atlas Consortium in late 2016. The consortium includes 500 scientists from around the world; projects related to the Human Cell Atlas have received $200 million from the National Institutes of Health.\u003c/p>\n\u003cp>Regev says she got interested in the project because human cells are so fascinating. As soon as she realized she could feasibly count and analyze them, she wanted to dig in.\u003c/p>\n\u003cp>\"There is nothing more remarkable than the cell,\" she says. \"It's the basic unit of life. It cannot be reduced to anything simpler — not the DNA, not the genes. It's this phenomenal entity that knows how to take many different pieces of information, make very quick and sophisticated decisions, act on them and continue on its way.\"\u003c/p>\n\u003cp>Rajagopal says he's also excited to learn more about how cells \"talk\" with each other.\u003c/p>\n\u003cp>\"I tend to think of cell tissues really as, like, societies — where cells are the individuals and there's a lot of communication from one cell to another, and some cells are sensing the environment and then sending signals to their neighbors,\" he says. Technological advances are allowing the cell atlas researchers to eavesdrop on this \"conversation\" for the first time.\u003c/p>\n\u003cp>Making the atlas won't solve every problem in medicine, just as having the entire map of the human genome from the Human Genome Project didn't fix everything. But, Regev says, it's a good place to start.\u003c/p>\n\u003cp>\"We knew the lessons from the Human Genome Project were [that] rallying together the entire community would really let you get a full answer to a question. And that full answer will empower everyone to do better and faster and higher-resolution biology,\" she says.\u003c/p>\n\u003cp>Teichmann, who specializes in immunology, says she expects the cell atlas will take another five to 10 years to complete. But she sees possibilities for improving treatments for diseases – asthma, perhaps, or cancer.\u003c/p>\n\u003cp>\"There is huge potential — huge potential,\" she says. \"You know there are very clear things that we can learn by drilling down to the single cell level in those diseases.\"\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\u003cem>This story originally ran on WBUR's \u003c/em>\u003ca href=\"http://www.wbur.org/commonhealth\" target=\"_blank\" rel=\"noopener\">Common Health\u003c/a>\u003cem>. \u003c/em>\u003ca href=\"http://www.wbur.org/inside/staff/karen-weintraub\" target=\"_blank\" rel=\"noopener\">\u003cem>Karen Weintraub\u003c/em>\u003c/a>\u003cem> is a Common Health contributing writer.\u003c/em>\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2018 WBUR. To see more, visit \u003ca href=\"http://www.wbur.org\" target=\"_blank\" rel=\"noopener\">WBUR\u003c/a>.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=Ambitious+%27Human+Cell+Atlas%27+Aims+To+Catalog+Every+Type+Of+Cell+In+The+Body&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\n","blocks":[],"excerpt":"Already the project has revealed a previously unknown type of cell in the windpipe that might play a role in cystic fibrosis — and lead to a new treatment, scientists say.","status":"publish","parent":0,"modified":1534172906,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":34,"wordCount":1173},"headData":{"title":"Ambitious 'Human Cell Atlas' Aims To Catalog Every Type Of Cell In The Body | KQED","description":"Already the project has revealed a previously unknown type of cell in the windpipe that might play a role in cystic fibrosis — and lead to a new treatment, scientists say.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"443905 https://ww2.kqed.org/futureofyou/?p=443905","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/08/13/ambitious-human-cell-atlas-aims-to-catalog-every-type-of-cell-in-the-body/","disqusTitle":"Ambitious 'Human Cell Atlas' Aims To Catalog Every Type Of Cell In The Body","source":"Health","nprImageCredit":"Casey Atkins","nprByline":"Karen Weintraub, NPR","nprImageAgency":"Broad Institute","nprStoryId":"636938467","nprApiLink":"http://api.npr.org/query?id=636938467&apiKey=MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004","nprHtmlLink":"https://www.npr.org/sections/health-shots/2018/08/13/636938467/ambitious-human-cell-atlas-aims-to-catalog-every-type-of-cell-in-the-body?ft=nprml&f=636938467","nprRetrievedStory":"1","nprPubDate":"Mon, 13 Aug 2018 05:00:00 -0400","nprStoryDate":"Mon, 13 Aug 2018 05:00:20 -0400","nprLastModifiedDate":"Mon, 13 Aug 2018 05:00:20 -0400","path":"/futureofyou/443905/ambitious-human-cell-atlas-aims-to-catalog-every-type-of-cell-in-the-body","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>\u003ca href=\"https://visitor.r20.constantcontact.com/manage/optin?v=001_E1ee4Kj9gBjf5py2sBtL-47gyrIXV_gSD2QylhrTvks5INjcehh4OTbt1TnUgDKomnPSWBQ3lm4NYbUJBMek2yviIHXnKVAOLjoUMMieTvSjNjB63IqMh9YG026R7gmdK7rGtkm55RtE4gOjB5EGZnCEwptndWGLAvuVLQh3c909XJSbGPjZKFTBuYqcp7rsrwCn4BxH6wH3dUKrBAiCQ%3D%3D\" target=\"_blank\" rel=\"noopener\">\u003cem>Sign up for the CommonHealth newsletter\u003c/em>\u003c/a>\u003cem> to receive a weekly digest of WBUR's best health, medicine and science coverage.\u003c/em>\u003c/p>\n\u003cp>If you flip open a biology textbook or do a quick \u003ca href=\"https://www.google.com/search?q=how+many+cell+types+in+the+human+body&oq=how+many+cell+types+in+the+human+body&aqs=chrome..69i57j0l5.6903j0j8&sourceid=chrome&ie=UTF-8\" target=\"_blank\" rel=\"noopener\">search\u003c/a> on Google, you'll quickly learn that there are a few hundred types of cells in the human body.\u003c/p>\n\u003cp>\"And it's true, because in broad categories, a few hundred is a good characterization,\" says \u003ca href=\"https://biology.mit.edu/profile/aviv-regev/\" target=\"_blank\" rel=\"noopener\">Aviv Regev\u003c/a>, a core member of the Broad Institute, a genetics research center in Cambridge, Mass.\u003c/p>\n\u003cp>But look a little closer, as Regev has been doing, and a far more complicated picture emerges.\u003c/p>\n\u003cp>\"No one really knows how many there will be,\" she says. Immunologists had already counted more than 300 in the immune system alone. The eye's retina, other research showed, has more than 100. How many in the whole body? Regev won't even try to predict.\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>\"People guess anything from the thousands to the tens of thousands. I'm not guessing,\" she says. \"I would rather actually get the measurements done and have a precise answer.\"\u003c/p>\n\u003cp>For the last two years Regev, a professor of biology at MIT, has been co-leading a massive international effort to get that answer. Called the \u003ca href=\"https://www.humancellatlas.org/\" target=\"_blank\" rel=\"noopener\">Human Cell Atlas Consortium\u003c/a>, the effort aims to account for and better understand every cell type and sub-type, and how they interact.\u003c/p>\n\u003cp>The Human Cell Atlas has received less attention than the $3 billion \u003ca href=\"https://www.genome.gov/10001772/all-about-the--human-genome-project-hgp/\" target=\"_blank\" rel=\"noopener\">Human Genome Project\u003c/a>, which was completed in 2003 after 15 years of work. But it's equally ambitious.\u003c/p>\n\u003cp>Regev's co-chair, \u003ca href=\"https://www.sanger.ac.uk/people/directory/teichmann-sarah\" target=\"_blank\" rel=\"noopener\">Sarah Teichmann\u003c/a>, uses Legos as a metaphor for their quest.\u003c/p>\n\u003cp>\"It's kind of like we're trying to find out what are all the different colors of Lego building blocks that we have in our bodies,\" Teichmann says. \"We're trying to find out how those building blocks — how those Lego parts — fit together in three dimensions within each tissue.\"\u003c/p>\n\u003cp>Looking at all those building blocks, Teichmann and Regev say, will offer many new insights into how the body works and what goes wrong in disease.\u003c/p>\n\u003cp>Regev and colleagues at Massachusetts General Hospital published t\u003ca href=\"https://www.nature.com/articles/s41586-018-0393-7\" target=\"_blank\" rel=\"noopener\">heir first major Human Cell Atlas\u003c/a> finding earlier this month in the journal \u003cem>Nature\u003c/em>. Working first in mice and then human tissue, they discovered that the lining of the windpipe — the tube that connects the throat and lungs — has seven cell types instead of the expected six.\u003c/p>\n\u003cp>And that new type of cell could prove crucial for understanding and eventually developing a cure for \u003ca href=\"https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/\" target=\"_blank\" rel=\"noopener\">cystic fibrosis\u003c/a>.\u003c/p>\n\u003cp>Researchers had believed that the disease was caused by a faulty protein made by a common cell in the windpipe's lining. But instead, the Broad-MGH team discovered that the bad protein is made in this rare, seventh cell type, which they named a pulmonary ionocyte.\u003c/p>\n\u003cp>The difference sounds small, but it could save years of wasted research effort trying to repair the wrong cell.\u003c/p>\n\u003cp>\"It sort of changes the problem,\" says \u003ca href=\"https://hsci.harvard.edu/people/jayaraj-rajagopal-md\" target=\"_blank\" rel=\"noopener\">Dr. Jay Rajagopal\u003c/a> of MGH and the Harvard Stem Cell Institute, who helped lead the windpipe work. Another team of researchers, led by \u003ca href=\"https://klein.hms.harvard.edu/people/allon-klein\" target=\"_blank\" rel=\"noopener\">Allon Klein \u003c/a>from Harvard Medical School and \u003ca href=\"https://www.novartis.com/our-science/postdoc-program/leadership/aron-b-jaffe-phd\" target=\"_blank\" rel=\"noopener\">Aron B. Jaffe\u003c/a> from the Novartis Institutes for BioMedical Research in Cambridge, \u003ca href=\"https://www.nature.com/articles/s41586-018-0394-6\" target=\"_blank\" rel=\"noopener\">confirmed the finding\u003c/a> in a separate \u003cem>Nature \u003c/em>paper.\u003c/p>\n\u003cp>Even without knowing about this seventh cell type, scientists have been able to develop drugs that have given cystic fibrosis patients hope of living into middle age. \"The progress has been amazing,\" Rajagopal says.\u003c/p>\n\u003cp>However, while the drugs treat the disease they can't cure it. A cure, Rajagopal says, will require targeting the precise cell where the faulty protein is made.\u003c/p>\n\u003cp>\"Now that we have this new piece of the puzzle I think it will direct research that much more,\" he says.\u003c/p>\n\u003cp>In another new paper related to the atlas, British researchers reported Friday in the journal \u003ca href=\"http://science.sciencemag.org/content/361/6402/594\" target=\"_blank\" rel=\"noopener\">Science\u003c/a> that kidney cancer in children starts in different cell types than kidney cancer in adults.\u003c/p>\n\u003cp>One of the technological advances that enabled the Human Cell Atlas came in 2014, when Regev and colleagues at Harvard — Steve McCarroll and David Weitz — made improvements to a technology called single-cell RNA sequencing, which reads the RNA in each cell to see which genes are active and identifies different cell types.\u003c/p>\n\u003cp>\"All of a sudden, we moved from something that was very laborious and we could do maybe a few dozen or a few hundred, to something where we could do many, many thousands in a 15- to 20-minute experiment,\" Regev says. \"We said, 'That's at the right scale that we could actually do the human body.' \"\u003c/p>\n\u003cp>Regev and Teichmann, head of cellular genetics at the Wellcome Sanger Institute in the United Kingdom, formed the Human Cell Atlas Consortium in late 2016. The consortium includes 500 scientists from around the world; projects related to the Human Cell Atlas have received $200 million from the National Institutes of Health.\u003c/p>\n\u003cp>Regev says she got interested in the project because human cells are so fascinating. As soon as she realized she could feasibly count and analyze them, she wanted to dig in.\u003c/p>\n\u003cp>\"There is nothing more remarkable than the cell,\" she says. \"It's the basic unit of life. It cannot be reduced to anything simpler — not the DNA, not the genes. It's this phenomenal entity that knows how to take many different pieces of information, make very quick and sophisticated decisions, act on them and continue on its way.\"\u003c/p>\n\u003cp>Rajagopal says he's also excited to learn more about how cells \"talk\" with each other.\u003c/p>\n\u003cp>\"I tend to think of cell tissues really as, like, societies — where cells are the individuals and there's a lot of communication from one cell to another, and some cells are sensing the environment and then sending signals to their neighbors,\" he says. Technological advances are allowing the cell atlas researchers to eavesdrop on this \"conversation\" for the first time.\u003c/p>\n\u003cp>Making the atlas won't solve every problem in medicine, just as having the entire map of the human genome from the Human Genome Project didn't fix everything. But, Regev says, it's a good place to start.\u003c/p>\n\u003cp>\"We knew the lessons from the Human Genome Project were [that] rallying together the entire community would really let you get a full answer to a question. And that full answer will empower everyone to do better and faster and higher-resolution biology,\" she says.\u003c/p>\n\u003cp>Teichmann, who specializes in immunology, says she expects the cell atlas will take another five to 10 years to complete. But she sees possibilities for improving treatments for diseases – asthma, perhaps, or cancer.\u003c/p>\n\u003cp>\"There is huge potential — huge potential,\" she says. \"You know there are very clear things that we can learn by drilling down to the single cell level in those diseases.\"\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"floatright"},"numeric":["floatright"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003cem>This story originally ran on WBUR's \u003c/em>\u003ca href=\"http://www.wbur.org/commonhealth\" target=\"_blank\" rel=\"noopener\">Common Health\u003c/a>\u003cem>. \u003c/em>\u003ca href=\"http://www.wbur.org/inside/staff/karen-weintraub\" target=\"_blank\" rel=\"noopener\">\u003cem>Karen Weintraub\u003c/em>\u003c/a>\u003cem> is a Common Health contributing writer.\u003c/em>\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2018 WBUR. To see more, visit \u003ca href=\"http://www.wbur.org\" target=\"_blank\" rel=\"noopener\">WBUR\u003c/a>.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=Ambitious+%27Human+Cell+Atlas%27+Aims+To+Catalog+Every+Type+Of+Cell+In+The+Body&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/443905/ambitious-human-cell-atlas-aims-to-catalog-every-type-of-cell-in-the-body","authors":["byline_futureofyou_443905"],"categories":["futureofyou_1060","futureofyou_1"],"tags":["futureofyou_1521","futureofyou_1595","futureofyou_1594","futureofyou_324","futureofyou_61"],"collections":["futureofyou_1094"],"featImg":"futureofyou_443906","label":"source_futureofyou_443905"},"futureofyou_443829":{"type":"posts","id":"futureofyou_443829","meta":{"index":"posts_1591205157","site":"futureofyou","id":"443829","score":null,"sort":[1533675608000]},"guestAuthors":[],"slug":"genetic-tests-can-hurt-your-chances-of-getting-some-types-of-insurance","title":"Genetic Tests Can Hurt Your Chances Of Getting Some Types Of Insurance","publishDate":1533675608,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>Taking a genetic test in your 20s or 30s could, indeed, affect your ability to get long-term-care insurance later — or at least the price you'll pay. And people who are considering enrolling in Medicare \u003cem>after\u003c/em> age 65 would do well to read the fine print of the sign-up rules. Readers have insurance questions on these topics this month, and we have answers:\u003c/p>\n\u003cp>\u003cstrong>Q: Can getting a genetic test interfere with being able to buy long-term-care insurance in the future? If you do get a plan, can the insurer drop you after you find out the results of a genetic test?\u003c/strong>\u003c/p>\n\u003cp>In general, long-term-care insurers \u003ca href=\"https://www.npr.org/sections/health-shots/2018/07/11/627287642/has-genetic-privacy-been-strained-by-trumps-recent-aca-moves\" target=\"_blank\" rel=\"noopener\">can indeed use genetic test results\u003c/a> when they decide whether to offer you coverage. The federal Genetic Information Nondiscrimination Act does prohibit insurers from asking for or using your genetic information to make decisions about whether to sell you \u003cem>health\u003c/em> insurance or how much to charge you. But those privacy protections don't apply to long-term-care policies, life insurance or disability insurance.[contextly_sidebar id=\"qQSelkzIcg9rHvmpdeoo1Q3hIhLbJVzz\"]\u003c/p>\n\u003cp>When you apply for a long-term-care policy, the insurer is permitted to review your medical records and ask you questions about your health history and that of your family. It's all part of the underwriting process to determine whether to offer you a policy and how much to charge.\u003c/p>\n\u003cp>If the insurer asks you whether you've undergone genetic testing, you generally must disclose it, even if the testing was performed through a direct-to-consumer site like 23andMe, says Catherine Theroux, a spokeswoman for \u003ca href=\"https://www.limra.com/News_Center/\" target=\"_blank\" rel=\"noopener\">LIMRA\u003c/a>, an insurance industry trade group.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>\"You need to release any medically relevant information,\" she says.\u003c/p>\n\u003cp>Some states provide extra consumer protections related to genetic testing and long-term-care insurance, says \u003ca href=\"https://www.law.gwu.edu/sonia-m-suter\" target=\"_blank\" rel=\"noopener\">Sonia Mateu Suter\u003c/a>, a law professor at George Washington University who specializes in genetics and the law. But most follow federal law.\u003c/p>\n\u003cp>If you get genetic testing after you have a policy, the results can't affect your coverage.\u003c/p>\n\u003cp>\"Once the policy has been underwritten and issued, the insurer doesn't revoke the policy if new medical information comes to light,\" Theroux says.\u003c/p>\n\u003cp>\u003cstrong>Q: Can I switch Medigap insurance companies midway through the year? I found a less expensive policy.\u003c/strong>\u003c/p>\n\u003cp>It depends. Under federal law, when people turn 65 and first enroll in Medicare Part B they have a six-month window to sign up for a \u003ca href=\"https://www.medicare.gov/supplement-other-insurance/medigap/whats-medigap.html\" target=\"_blank\" rel=\"noopener\">Medigap plan\u003c/a> — a commercial policy that picks up some of the out-of-pocket costs for services that Medicare doesn't cover. (\u003ca href=\"https://www.medicare.gov/what-medicare-covers/part-a/what-part-a-covers.html\" target=\"_blank\" rel=\"noopener\">Medicare Part A covers\u003c/a> hospitalization, and \u003ca href=\"https://www.medicare.gov/what-medicare-covers/part-b/what-medicare-part-b-covers.html\" target=\"_blank\" rel=\"noopener\">Medicare Part B covers\u003c/a> outpatient services.) During that six-month period, insurers have to accept enrollees, even if they have health problems.[contextly_sidebar id=\"AH3oYgfcAwGcfBrC61gPsQfir4oB7Yc7\"]\u003c/p>\n\u003cp>If you're still within that six-month period now and you want to switch plans, go right ahead.\u003c/p>\n\u003cp>But if you're past the six-month window, under federal law, insurers are required to sell you a plan only in certain circumstances — such as if you lose your retiree coverage or Medicare Advantage plan. If you don't meet the criteria, insurers can decline to cover you or charge you more for preexisting medical conditions.\u003c/p>\n\u003cp>Many states have provided more robust protections, however. Three states — Connecticut, Massachusetts and New York — have year-round open enrollment and require insurers to offer coverage. And Maine requires a one-month \"guaranteed issue\" open-enrollment period every year.\u003c/p>\n\u003cp>Some states guarantee current policyholders a chance to switch Medigap plans at certain points during the year. Other states have \u003ca href=\"https://www.kff.org/medicare/issue-brief/medigap-enrollment-and-consumer-protections-vary-across-states/\" target=\"_blank\" rel=\"noopener\">additional qualifying events\u003c/a> that allow people to switch Medigap plans, according to data from the Kaiser Family Foundation.\u003c/p>\n\u003cp>\"The first thing the person should do is check with her state insurance department to find out her rights related to buying a Medigap plan,\" says \u003ca href=\"https://www.ncoa.org/centerforbenefits/about-the-center/\" target=\"_blank\" rel=\"noopener\">Brandy Bauer\u003c/a>, associate director at the Center for Benefits Access at the National Council on Aging. If you decide to go ahead and switch, she says, it is wise to sign up for a new plan before terminating your current policy.[contextly_sidebar id=\"t6VA7YIl0My5E1I6mIhIw1XmFGiwNdrT\"]\u003c/p>\n\u003cp>\u003cstrong>Q: I did not enroll in Medicare Part B when I turned 65 because I already have a regular plan that covers everything. I was told that the insurer would keep paying as usual, but now the company says it will pay only part and that I have to buy Medicare Part B. I didn't want to pay for two policies. Is there anything I can do to avoid that?\u003c/strong>\u003c/p>\n\u003cp>From your description, it's hard to know exactly what's going on, but we can make educated guesses. Typically, when people turn 65, it makes sense to sign up for Medicare unless they or their spouse are working and getting health insurance from an employer. For others, at age 65, Medicare typically becomes their primary insurer and any other coverage they have becomes secondary, filling in gaps in Medicare coverage.\u003c/p>\n\u003cp>If you have an individual policy that you bought on the health insurance exchange, and decide to hang on to it instead of signing up for Medicare, your premiums and other costs could be higher than they would be on Medicare, depending on your income.\u003c/p>\n\u003cp>But if you're not receiving employee coverage and you don't enroll in Medicare Part B, you could be subject to a permanent \u003ca href=\"https://www.medicare.gov/your-medicare-costs/part-b-costs/penalty/part-b-late-enrollment-penalty.html\" target=\"_blank\" rel=\"noopener\">late enrollment penalty\u003c/a> of 10 percent of the policy's premium for every 12 months that you could have signed up for Part B but didn't.\u003c/p>\n\u003cp>You could also owe a premium penalty for not signing up for a Part D prescription drug plan. (Most people don't owe any premium for Medicare Part A, so there's no penalty for late sign-up.)\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>Your best move now may be to call 800-Medicare or visit your local \u003ca href=\"https://www.medicare.gov/contacts/#resources/ships\" target=\"_blank\" rel=\"noopener\">state health insurance assistance program\u003c/a> to help sort out your coverage issues, including whether to drop your current coverage and sign up for Medicare Part B and Part D.\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2018 Kaiser Health News. To see more, visit \u003ca href=\"http://www.kaiserhealthnews.org/\" target=\"_blank\" rel=\"noopener\">Kaiser Health News\u003c/a>.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=Genetic+Tests+Can+Hurt+Your+Chances+Of+Getting+Some+Types+Of+Insurance&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\n","blocks":[],"excerpt":"Federal law keeps insurers from using genetic test results when pricing and issuing health insurance. But the tests might keep you from being able to get life insurance or a long-term-care policy.","status":"publish","parent":0,"modified":1533650118,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":24,"wordCount":1020},"headData":{"title":"Genetic Tests Can Hurt Your Chances Of Getting Some Types Of Insurance | KQED","description":"Federal law keeps insurers from using genetic test results when pricing and issuing health insurance. But the tests might keep you from being able to get life insurance or a long-term-care policy.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"443829 https://ww2.kqed.org/futureofyou/?p=443829","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/08/07/genetic-tests-can-hurt-your-chances-of-getting-some-types-of-insurance/","disqusTitle":"Genetic Tests Can Hurt Your Chances Of Getting Some Types Of Insurance","source":"Health","nprByline":"Michelle Andrews, KHN","nprImageAgency":"Science Photo Library RF/Getty Images","nprStoryId":"636026264","nprApiLink":"http://api.npr.org/query?id=636026264&apiKey=MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004","nprHtmlLink":"https://www.npr.org/sections/health-shots/2018/08/07/636026264/genetic-tests-can-hurt-your-chances-of-getting-some-types-of-insurance?ft=nprml&f=636026264","nprRetrievedStory":"1","nprPubDate":"Tue, 07 Aug 2018 09:08:00 -0400","nprStoryDate":"Tue, 07 Aug 2018 09:00:18 -0400","nprLastModifiedDate":"Tue, 07 Aug 2018 09:08:23 -0400","path":"/futureofyou/443829/genetic-tests-can-hurt-your-chances-of-getting-some-types-of-insurance","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>Taking a genetic test in your 20s or 30s could, indeed, affect your ability to get long-term-care insurance later — or at least the price you'll pay. And people who are considering enrolling in Medicare \u003cem>after\u003c/em> age 65 would do well to read the fine print of the sign-up rules. Readers have insurance questions on these topics this month, and we have answers:\u003c/p>\n\u003cp>\u003cstrong>Q: Can getting a genetic test interfere with being able to buy long-term-care insurance in the future? If you do get a plan, can the insurer drop you after you find out the results of a genetic test?\u003c/strong>\u003c/p>\n\u003cp>In general, long-term-care insurers \u003ca href=\"https://www.npr.org/sections/health-shots/2018/07/11/627287642/has-genetic-privacy-been-strained-by-trumps-recent-aca-moves\" target=\"_blank\" rel=\"noopener\">can indeed use genetic test results\u003c/a> when they decide whether to offer you coverage. The federal Genetic Information Nondiscrimination Act does prohibit insurers from asking for or using your genetic information to make decisions about whether to sell you \u003cem>health\u003c/em> insurance or how much to charge you. But those privacy protections don't apply to long-term-care policies, life insurance or disability insurance.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>When you apply for a long-term-care policy, the insurer is permitted to review your medical records and ask you questions about your health history and that of your family. It's all part of the underwriting process to determine whether to offer you a policy and how much to charge.\u003c/p>\n\u003cp>If the insurer asks you whether you've undergone genetic testing, you generally must disclose it, even if the testing was performed through a direct-to-consumer site like 23andMe, says Catherine Theroux, a spokeswoman for \u003ca href=\"https://www.limra.com/News_Center/\" target=\"_blank\" rel=\"noopener\">LIMRA\u003c/a>, an insurance industry trade group.\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>\"You need to release any medically relevant information,\" she says.\u003c/p>\n\u003cp>Some states provide extra consumer protections related to genetic testing and long-term-care insurance, says \u003ca href=\"https://www.law.gwu.edu/sonia-m-suter\" target=\"_blank\" rel=\"noopener\">Sonia Mateu Suter\u003c/a>, a law professor at George Washington University who specializes in genetics and the law. But most follow federal law.\u003c/p>\n\u003cp>If you get genetic testing after you have a policy, the results can't affect your coverage.\u003c/p>\n\u003cp>\"Once the policy has been underwritten and issued, the insurer doesn't revoke the policy if new medical information comes to light,\" Theroux says.\u003c/p>\n\u003cp>\u003cstrong>Q: Can I switch Medigap insurance companies midway through the year? I found a less expensive policy.\u003c/strong>\u003c/p>\n\u003cp>It depends. Under federal law, when people turn 65 and first enroll in Medicare Part B they have a six-month window to sign up for a \u003ca href=\"https://www.medicare.gov/supplement-other-insurance/medigap/whats-medigap.html\" target=\"_blank\" rel=\"noopener\">Medigap plan\u003c/a> — a commercial policy that picks up some of the out-of-pocket costs for services that Medicare doesn't cover. (\u003ca href=\"https://www.medicare.gov/what-medicare-covers/part-a/what-part-a-covers.html\" target=\"_blank\" rel=\"noopener\">Medicare Part A covers\u003c/a> hospitalization, and \u003ca href=\"https://www.medicare.gov/what-medicare-covers/part-b/what-medicare-part-b-covers.html\" target=\"_blank\" rel=\"noopener\">Medicare Part B covers\u003c/a> outpatient services.) During that six-month period, insurers have to accept enrollees, even if they have health problems.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>If you're still within that six-month period now and you want to switch plans, go right ahead.\u003c/p>\n\u003cp>But if you're past the six-month window, under federal law, insurers are required to sell you a plan only in certain circumstances — such as if you lose your retiree coverage or Medicare Advantage plan. If you don't meet the criteria, insurers can decline to cover you or charge you more for preexisting medical conditions.\u003c/p>\n\u003cp>Many states have provided more robust protections, however. Three states — Connecticut, Massachusetts and New York — have year-round open enrollment and require insurers to offer coverage. And Maine requires a one-month \"guaranteed issue\" open-enrollment period every year.\u003c/p>\n\u003cp>Some states guarantee current policyholders a chance to switch Medigap plans at certain points during the year. Other states have \u003ca href=\"https://www.kff.org/medicare/issue-brief/medigap-enrollment-and-consumer-protections-vary-across-states/\" target=\"_blank\" rel=\"noopener\">additional qualifying events\u003c/a> that allow people to switch Medigap plans, according to data from the Kaiser Family Foundation.\u003c/p>\n\u003cp>\"The first thing the person should do is check with her state insurance department to find out her rights related to buying a Medigap plan,\" says \u003ca href=\"https://www.ncoa.org/centerforbenefits/about-the-center/\" target=\"_blank\" rel=\"noopener\">Brandy Bauer\u003c/a>, associate director at the Center for Benefits Access at the National Council on Aging. If you decide to go ahead and switch, she says, it is wise to sign up for a new plan before terminating your current policy.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>\u003cstrong>Q: I did not enroll in Medicare Part B when I turned 65 because I already have a regular plan that covers everything. I was told that the insurer would keep paying as usual, but now the company says it will pay only part and that I have to buy Medicare Part B. I didn't want to pay for two policies. Is there anything I can do to avoid that?\u003c/strong>\u003c/p>\n\u003cp>From your description, it's hard to know exactly what's going on, but we can make educated guesses. Typically, when people turn 65, it makes sense to sign up for Medicare unless they or their spouse are working and getting health insurance from an employer. For others, at age 65, Medicare typically becomes their primary insurer and any other coverage they have becomes secondary, filling in gaps in Medicare coverage.\u003c/p>\n\u003cp>If you have an individual policy that you bought on the health insurance exchange, and decide to hang on to it instead of signing up for Medicare, your premiums and other costs could be higher than they would be on Medicare, depending on your income.\u003c/p>\n\u003cp>But if you're not receiving employee coverage and you don't enroll in Medicare Part B, you could be subject to a permanent \u003ca href=\"https://www.medicare.gov/your-medicare-costs/part-b-costs/penalty/part-b-late-enrollment-penalty.html\" target=\"_blank\" rel=\"noopener\">late enrollment penalty\u003c/a> of 10 percent of the policy's premium for every 12 months that you could have signed up for Part B but didn't.\u003c/p>\n\u003cp>You could also owe a premium penalty for not signing up for a Part D prescription drug plan. (Most people don't owe any premium for Medicare Part A, so there's no penalty for late sign-up.)\u003c/p>\n\u003cp>\u003c/p>\n\u003cp>Your best move now may be to call 800-Medicare or visit your local \u003ca href=\"https://www.medicare.gov/contacts/#resources/ships\" target=\"_blank\" rel=\"noopener\">state health insurance assistance program\u003c/a> to help sort out your coverage issues, including whether to drop your current coverage and sign up for Medicare Part B and Part D.\u003c/p>\n\u003cdiv class=\"fullattribution\">Copyright 2018 Kaiser Health News. To see more, visit \u003ca href=\"http://www.kaiserhealthnews.org/\" target=\"_blank\" rel=\"noopener\">Kaiser Health News\u003c/a>.\u003cimg src=\"https://www.google-analytics.com/__utm.gif?utmac=UA-5828686-4&utmdt=Genetic+Tests+Can+Hurt+Your+Chances+Of+Getting+Some+Types+Of+Insurance&utme=8(APIKey)9(MDAxOTAwOTE4MDEyMTkxMDAzNjczZDljZA004)\">\u003c/div>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/443829/genetic-tests-can-hurt-your-chances-of-getting-some-types-of-insurance","authors":["byline_futureofyou_443829"],"categories":["futureofyou_452","futureofyou_1","futureofyou_73","futureofyou_1064"],"tags":["futureofyou_1015","futureofyou_61","futureofyou_419","futureofyou_35"],"collections":["futureofyou_1094"],"featImg":"futureofyou_443830","label":"source_futureofyou_443829"},"futureofyou_443403":{"type":"posts","id":"futureofyou_443403","meta":{"index":"posts_1591205157","site":"futureofyou","id":"443403","score":null,"sort":[1531854049000]},"guestAuthors":[],"slug":"potential-dna-damage-from-crispr-seriously-underestimated-study-finds","title":"Potential DNA Damage From CRISPR ‘Seriously Underestimated,’ Study Finds","publishDate":1531854049,"format":"standard","headTitle":"KQED Future of You | KQED Science","labelTerm":{},"content":"\u003cp>From the earliest days of the CRISPR-Cas9 era, scientists have known that the first step in how it \u003ca href=\"https://www.statnews.com/2018/04/04/how-crispr-works-visualized/\">edits genomes\u003c/a> — snipping DNA — creates an unholy mess: Cellular repairmen frantically try to fix the cuts by throwing random chunks of DNA into the breach and deleting other random bits. \u003ca href=\"https://www.nature.com/articles/Nbt.4192\" target=\"_blank\" rel=\"noopener\">Research\u003c/a> published on Monday suggests that’s only the tip of a Titanic-sized iceberg: CRISPR-Cas9 can cause significantly greater genetic havoc than experts thought, the study concludes, perhaps enough to threaten the health of patients who would one day receive \u003ca href=\"https://www.statnews.com/2018/02/21/crispr-sickle-cell-clinical-trials/\">CRISPR-based therapy\u003c/a>.[contextly_sidebar id=\"y9TqAZzR84fJHw52DmhRAZZb04jkzjxD\"]\u003c/p>\n\u003cp>The results come hard on the heels of two \u003ca href=\"https://www.statnews.com/2018/06/11/crispr-hurdle-edited-cells-might-cause-cancer/\">studies\u003c/a> that identified a related issue: Some CRISPR’d cells might be missing a key anti-cancer mechanism and therefore be able to initiate tumors.\u003c/p>\n\u003cp>The DNA damage found in the new study included deletions of thousands of DNA bases, including at spots far from the edit. Some of the deletions can silence genes that should be active and activate genes that should be silent, including cancer-causing genes.\u003c/p>\n\u003cp>The DNA chaos that CRISPR unleashes has been “seriously underestimated,” said geneticist Allan Bradley of England’s Wellcome Sanger Institute, who led the study. “This should be a wake-up call.”\u003c/p>\n\u003cp>Leading CRISPR companies scrambled to play down the latest threat to what they hope will be a multibillion-dollar business \u003cstrong>— \u003c/strong>and to their stock prices, but investors reacted with alarm. Within the first 20 minutes of when the study was released, the three publicly traded CRISPR companies lost more than $300 million in value, and it was downhill from there: CRISPR Therapeutics ended down 8.6 percent, Editas Medicine fell 7 percent, and Intellia Therapeutics lost nearly 10 percent.\u003c/p>\n\u003cp>[ad fullwidth]\u003c/p>\n\u003cp>The companies questioned whether the CRISPR-caused DNA damage reported in the new study applied to the kind of cells they’re planning to CRISPR. They emphasized that if genomic scrambling is at all common then it should also be seen in earlier forms of genome-editing such as \u003ca href=\"https://www.statnews.com/2017/11/30/crispr-talens-gene-editing/\">zinc fingers and TALENs\u003c/a> (but apparently isn’t). And they insisted they’re on the case.\u003c/p>\n\u003cp>“We’re not Pollyannaish about this,” said geneticist Tom Barnes, chief innovation officer at Intellia. For its mouse experiments, Intellia analyzes edited genomes for collateral damage both near the editing target and tens of thousands of DNA letters away, he said, but “we have not seen any [cancer-causing] transformation of these cells, even with all the edits we’ve introduced.”[contextly_sidebar id=\"X3REPdHlQY5Hjsf4rQxCF5iuUbyNXJ8K\"]\u003c/p>\n\u003cp>In a statement, Editas spokeswoman Cristi Barnett said the possibility of genetic chaos from CRISPR is “an interesting topic” that the company “actively examine[s].” The reported DNA havoc, she said, is not “specifically problematic in our work to make CRISPR-based medicines.” CRISPR Therapeutics did not respond to requests for comment.\u003c/p>\n\u003cp>Academic scientists were less dismissive of the new study, in Nature Biotechnology. One leading CRISPR developer called it “well-done and credible,” “a cautionary note to the [genome-editing] community,” and consistent with other research showing that the DNA cuts that CRISPR makes, called double-stranded breaks, “can induce the types of genomic DNA rearrangements and deletions they report.” He asked not to be identified so as not to jeopardize business relationships with genome-editing companies.\u003c/p>\n\u003cp>But just as critics of last month’s studies asked why, if CRISPR’d cells can initiate cancer, no CRISPR’d mice had turned up with tumors, so scientists raised similar questions about the new genomic havoc finding: Why don’t scientists see it when they analyze the DNA of CRISPR’d cells?\u003c/p>\n\u003cp>“You find what you look for,” said Bradley. “No one is looking at the impact [of these DNA changes] on downstream genes.”\u003c/p>\n\u003cp>And few studies conduct full-out genome sequencing of CRISPR’d cells. Moreover, scientists typically search for one form of the collateral damage the Sanger study found — deletions of thousands of DNA bases (the double helix’s famous A’s, T’s, C’s, and G’s) — using a standard technique called PCR, which makes millions of DNA copies. But to work, PCR must attach to a “binding site” on DNA; CRISPR sometimes deletes that binding site, said Bradley, whose team used a different technique to analyze the double helix for collateral damage from CRISPR.\u003c/p>\n\u003cp>The Sanger scientists didn’t set out to find collateral DNA damage from CRISPR. As they investigated how CRISPR might change gene expression, a “weird thing” showed up, Bradley said: The target DNA was accurately changed, but that set off a chain reaction that engulfed genes far from the target. The scientists therefore changed course.[contextly_sidebar id=\"dkt97iGOrAQULIvrxP1t89Dkl2rYRsky\"]\u003c/p>\n\u003cp>When they aimed CRISPR at different targets in mouse embryonic stem cells, mouse blood-making cells, and human retinal cells, “extensive on-target genomic damage [was] a common outcome,” they wrote in their paper. In one case, genomes in about two-thirds of the CRISPR’d cells showed the expected small-scale inadvertent havoc, but 21 percent had DNA deletions of more than 250 bases and up to 6,000 bases long.\u003c/p>\n\u003cp>Since therapeutic uses of CRISPR would edit the genomes of billions of cells in, say, a patient’s liver, even rare DNA damage “makes it likely that one or more edited cells … would be endowed with an important [disease-causing] lesion,” the scientists wrote.\u003c/p>\n\u003cp>Nature Biotechnology took a year to publish the paper, after asking Bradley numerous variations of “are you sure?” and “did you consider this?” and asking him to run additional experiments, Bradley said. The results all held up.\u003c/p>\n\u003cp>The one U.S. \u003ca href=\"https://clinicaltrials.gov/ct2/show/NCT03399448\" target=\"_blank\" rel=\"noopener\">clinical trial\u003c/a> using CRISPR’d cells began recruiting patients this year. It will use CRISPR to make immune cells, removed from patients with any of four types of cancer, attack telltale molecules on the tumor cells’ surface. Asked what genome analysis he plans to do, lead investigator Dr. Edward Stadtmauer of the University of Pennsylvania said, “We are doing extensive testing of the final cellular product as well as the cells within the patient.”\u003c/p>\n\u003cp>The possibility of adverse consequences from CRISPR’d cells has caused some company officials to argue that if, say, their therapy cures a child of a devastating disease, but increases her risk of cancer, that might be an acceptable trade-off.\u003c/p>\n\u003cp>That argument may well prevail. In 2003, however, when a boy in a gene therapy trial in France \u003ca href=\"https://www.nejm.org/doi/full/10.1056/NEJM200301163480314\" target=\"_blank\" rel=\"noopener\">developed leukemia\u003c/a> because the repair gene landed in the wrong place in his genome and activated a cancer-causing gene, it shut down gene therapy development on both sides of the Atlantic for years.\u003c/p>\n\u003cp>[ad floatright]\u003c/p>\n\u003cp>\u003cem>This\u003ca href=\"https://www.statnews.com/2018/07/16/crispr-potential-dna-damage-underestimated/\" target=\"_blank\" rel=\"noopener\"> story\u003c/a> was originally published by STAT, an online publication of Boston Globe Media that covers health, medicine, and scientific discovery.\u003c/em>\u003c/p>\n\n","blocks":[],"excerpt":"Leading CRISPR companies scrambled to play down the latest threat to what they hope will be a multibillion-dollar business.","status":"publish","parent":0,"modified":1531933835,"stats":{"hasAudio":false,"hasVideo":false,"hasChartOrMap":false,"iframeSrcs":[],"hasGoogleForm":false,"hasGallery":false,"hasHearkenModule":false,"hasPolis":false,"paragraphCount":22,"wordCount":1198},"headData":{"title":"Potential DNA Damage From CRISPR ‘Seriously Underestimated,’ Study Finds | KQED","description":"Leading CRISPR companies scrambled to play down the latest threat to what they hope will be a multibillion-dollar business.","ogTitle":"","ogDescription":"","ogImgId":"","twTitle":"","twDescription":"","twImgId":""},"disqusIdentifier":"443403 https://ww2.kqed.org/futureofyou/?p=443403","disqusUrl":"https://ww2.kqed.org/futureofyou/2018/07/17/potential-dna-damage-from-crispr-seriously-underestimated-study-finds/","disqusTitle":"Potential DNA Damage From CRISPR ‘Seriously Underestimated,’ Study Finds","source":"Hope/Hype","nprByline":"Sharon Begley\u003cbr />STAT","path":"/futureofyou/443403/potential-dna-damage-from-crispr-seriously-underestimated-study-finds","audioTrackLength":null,"parsedContent":[{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003cp>From the earliest days of the CRISPR-Cas9 era, scientists have known that the first step in how it \u003ca href=\"https://www.statnews.com/2018/04/04/how-crispr-works-visualized/\">edits genomes\u003c/a> — snipping DNA — creates an unholy mess: Cellular repairmen frantically try to fix the cuts by throwing random chunks of DNA into the breach and deleting other random bits. \u003ca href=\"https://www.nature.com/articles/Nbt.4192\" target=\"_blank\" rel=\"noopener\">Research\u003c/a> published on Monday suggests that’s only the tip of a Titanic-sized iceberg: CRISPR-Cas9 can cause significantly greater genetic havoc than experts thought, the study concludes, perhaps enough to threaten the health of patients who would one day receive \u003ca href=\"https://www.statnews.com/2018/02/21/crispr-sickle-cell-clinical-trials/\">CRISPR-based therapy\u003c/a>.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>The results come hard on the heels of two \u003ca href=\"https://www.statnews.com/2018/06/11/crispr-hurdle-edited-cells-might-cause-cancer/\">studies\u003c/a> that identified a related issue: Some CRISPR’d cells might be missing a key anti-cancer mechanism and therefore be able to initiate tumors.\u003c/p>\n\u003cp>The DNA damage found in the new study included deletions of thousands of DNA bases, including at spots far from the edit. Some of the deletions can silence genes that should be active and activate genes that should be silent, including cancer-causing genes.\u003c/p>\n\u003cp>The DNA chaos that CRISPR unleashes has been “seriously underestimated,” said geneticist Allan Bradley of England’s Wellcome Sanger Institute, who led the study. “This should be a wake-up call.”\u003c/p>\n\u003cp>Leading CRISPR companies scrambled to play down the latest threat to what they hope will be a multibillion-dollar business \u003cstrong>— \u003c/strong>and to their stock prices, but investors reacted with alarm. Within the first 20 minutes of when the study was released, the three publicly traded CRISPR companies lost more than $300 million in value, and it was downhill from there: CRISPR Therapeutics ended down 8.6 percent, Editas Medicine fell 7 percent, and Intellia Therapeutics lost nearly 10 percent.\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>The companies questioned whether the CRISPR-caused DNA damage reported in the new study applied to the kind of cells they’re planning to CRISPR. They emphasized that if genomic scrambling is at all common then it should also be seen in earlier forms of genome-editing such as \u003ca href=\"https://www.statnews.com/2017/11/30/crispr-talens-gene-editing/\">zinc fingers and TALENs\u003c/a> (but apparently isn’t). And they insisted they’re on the case.\u003c/p>\n\u003cp>“We’re not Pollyannaish about this,” said geneticist Tom Barnes, chief innovation officer at Intellia. For its mouse experiments, Intellia analyzes edited genomes for collateral damage both near the editing target and tens of thousands of DNA letters away, he said, but “we have not seen any [cancer-causing] transformation of these cells, even with all the edits we’ve introduced.”\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>In a statement, Editas spokeswoman Cristi Barnett said the possibility of genetic chaos from CRISPR is “an interesting topic” that the company “actively examine[s].” The reported DNA havoc, she said, is not “specifically problematic in our work to make CRISPR-based medicines.” CRISPR Therapeutics did not respond to requests for comment.\u003c/p>\n\u003cp>Academic scientists were less dismissive of the new study, in Nature Biotechnology. One leading CRISPR developer called it “well-done and credible,” “a cautionary note to the [genome-editing] community,” and consistent with other research showing that the DNA cuts that CRISPR makes, called double-stranded breaks, “can induce the types of genomic DNA rearrangements and deletions they report.” He asked not to be identified so as not to jeopardize business relationships with genome-editing companies.\u003c/p>\n\u003cp>But just as critics of last month’s studies asked why, if CRISPR’d cells can initiate cancer, no CRISPR’d mice had turned up with tumors, so scientists raised similar questions about the new genomic havoc finding: Why don’t scientists see it when they analyze the DNA of CRISPR’d cells?\u003c/p>\n\u003cp>“You find what you look for,” said Bradley. “No one is looking at the impact [of these DNA changes] on downstream genes.”\u003c/p>\n\u003cp>And few studies conduct full-out genome sequencing of CRISPR’d cells. Moreover, scientists typically search for one form of the collateral damage the Sanger study found — deletions of thousands of DNA bases (the double helix’s famous A’s, T’s, C’s, and G’s) — using a standard technique called PCR, which makes millions of DNA copies. But to work, PCR must attach to a “binding site” on DNA; CRISPR sometimes deletes that binding site, said Bradley, whose team used a different technique to analyze the double helix for collateral damage from CRISPR.\u003c/p>\n\u003cp>The Sanger scientists didn’t set out to find collateral DNA damage from CRISPR. As they investigated how CRISPR might change gene expression, a “weird thing” showed up, Bradley said: The target DNA was accurately changed, but that set off a chain reaction that engulfed genes far from the target. The scientists therefore changed course.\u003c/p>\u003cp>\u003c/p>\u003cp>\u003c/p>\n\u003cp>When they aimed CRISPR at different targets in mouse embryonic stem cells, mouse blood-making cells, and human retinal cells, “extensive on-target genomic damage [was] a common outcome,” they wrote in their paper. In one case, genomes in about two-thirds of the CRISPR’d cells showed the expected small-scale inadvertent havoc, but 21 percent had DNA deletions of more than 250 bases and up to 6,000 bases long.\u003c/p>\n\u003cp>Since therapeutic uses of CRISPR would edit the genomes of billions of cells in, say, a patient’s liver, even rare DNA damage “makes it likely that one or more edited cells … would be endowed with an important [disease-causing] lesion,” the scientists wrote.\u003c/p>\n\u003cp>Nature Biotechnology took a year to publish the paper, after asking Bradley numerous variations of “are you sure?” and “did you consider this?” and asking him to run additional experiments, Bradley said. The results all held up.\u003c/p>\n\u003cp>The one U.S. \u003ca href=\"https://clinicaltrials.gov/ct2/show/NCT03399448\" target=\"_blank\" rel=\"noopener\">clinical trial\u003c/a> using CRISPR’d cells began recruiting patients this year. It will use CRISPR to make immune cells, removed from patients with any of four types of cancer, attack telltale molecules on the tumor cells’ surface. Asked what genome analysis he plans to do, lead investigator Dr. Edward Stadtmauer of the University of Pennsylvania said, “We are doing extensive testing of the final cellular product as well as the cells within the patient.”\u003c/p>\n\u003cp>The possibility of adverse consequences from CRISPR’d cells has caused some company officials to argue that if, say, their therapy cures a child of a devastating disease, but increases her risk of cancer, that might be an acceptable trade-off.\u003c/p>\n\u003cp>That argument may well prevail. In 2003, however, when a boy in a gene therapy trial in France \u003ca href=\"https://www.nejm.org/doi/full/10.1056/NEJM200301163480314\" target=\"_blank\" rel=\"noopener\">developed leukemia\u003c/a> because the repair gene landed in the wrong place in his genome and activated a cancer-causing gene, it shut down gene therapy development on both sides of the Atlantic for years.\u003c/p>\n\u003cp>\u003c/p>\u003c/div>","attributes":{"named":{},"numeric":[]}},{"type":"component","content":"","name":"ad","attributes":{"named":{"label":"floatright"},"numeric":["floatright"]}},{"type":"contentString","content":"\u003cdiv class=\"post-body\">\u003cp>\u003c/p>\n\u003cp>\u003cem>This\u003ca href=\"https://www.statnews.com/2018/07/16/crispr-potential-dna-damage-underestimated/\" target=\"_blank\" rel=\"noopener\"> story\u003c/a> was originally published by STAT, an online publication of Boston Globe Media that covers health, medicine, and scientific discovery.\u003c/em>\u003c/p>\n\n\u003c/div>\u003c/p>","attributes":{"named":{},"numeric":[]}}],"link":"/futureofyou/443403/potential-dna-damage-from-crispr-seriously-underestimated-study-finds","authors":["byline_futureofyou_443403"],"categories":["futureofyou_1062","futureofyou_73"],"tags":["futureofyou_103","futureofyou_94","futureofyou_17","futureofyou_1275","futureofyou_830","futureofyou_61"],"collections":["futureofyou_1097","futureofyou_1094"],"featImg":"futureofyou_443405","label":"source_futureofyou_443403"}},"programsReducer":{"possible":{"id":"possible","title":"Possible","info":"Possible is hosted by entrepreneur Reid Hoffman and writer Aria Finger. 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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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