The NIH Undiagnosed Disease Program Celebrates its 10th Anniversary!
In the July issue ofThe Genomics Landscape, NHGRI Director Dr. Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program. Other topics include the release of NIH's new strategic plan for data science, Dr. Green's keynote talk at the eighth annual Nuka System of Care Conference, and the National Academies of Sciences, Engineering, and Medicine (NASEM) Roundtable on Genomics and Precision Health Twitter chat on understanding disparities in access to genetic and genomic services. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - July 5, 2018 Category: Genetics & Stem Cells Source Type: news

NIH researchers identify genes associated with super-athletic sport hunting dogs
In the world of canine genomics, sport hunting dogs are super athletes and terriers are plucky supermodels. NHGRI researchers reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including those with roles in endurance, heart function, blood flow and pain perception. What terriers lacked in sporty genes, they made up for in genes associated with physical attributes such as their trademark facial hair. The findings were published online in the July 3, 2018,Proceedings of the National Academy of Sciences (PNAS). (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - July 5, 2018 Category: Genetics & Stem Cells Source Type: news

NHGRI contributes to study that implicates 63 new gene variants in prostate cancer risk
Elaine A. Ostrander, Ph.D., a researcher with the National Human Genome Research Institute, contributed to a new study that has implicated 63 additional genetic variants in prostate cancer risk. Dr. Ostrander and her colleagues based their findings, published inNature Genetics, on DNA samples from more than 140,000 men. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - June 12, 2018 Category: Genetics & Stem Cells Source Type: news

The Cancer Genome Atlas: Charting the Course for Cancer Research
In the June issue ofThe Genomics Landscape, NHGRI Director Dr. Eric Green highlights the success of The Cancer Genome Atlas, as the program draws to an end. Other topics include the launch of theAll of Us Research Program, the retirement of National Institute on Deafness and Other Communication Disorders Director Dr. James Battey to NHGRI Scientific Director Dr. Dan Kastner's selection as a finalist for the 2018 Samuel J. Heyman Service to America Medals. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - June 7, 2018 Category: Genetics & Stem Cells Source Type: news

New video reflects on successes of The Cancer Genome Atlas
After more than 10 years, The Cancer Genome Atlas (TCGA) has come to a close. A multi-institution collaboration initiated and supported by NHGRI and the National Cancer Institute (NCI), TCGA has been hugely successful in its mission to catalog the genomic changes underlying multiple cancer types. This video celebrates TCGA's accomplishments with reflections from some of its contributors, including NIH Director Francis S. Collins, M.D. Ph.D., and NHGRI's Division of Genome Sciences Director Carolyn Hutter, Ph.D. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 31, 2018 Category: Genetics & Stem Cells Source Type: news

One patient's diagnostic odyssey ends at the NIH Clinical Center
A year ago, 14-year-old Rohith Lokesh spent most of his days barely walking and in a wheelchair. After cutting-edge treatment at the NIH Clinical Center this patient is winning dance contests back in his hometown. This patient's story highlights what the NIH Clinical Center can do that's hard to do somewhere else. From using mechanistic studies and genome sequencing to inform your patient care - that's unique to NIH. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 30, 2018 Category: Genetics & Stem Cells Source Type: news

Criminal genealogy searching is a valuable tool but raises important ethical concerns
NIH researchers addressed the ethics of using genealogy data to solve crimes in a timely commentary relevant to the recent arrest of the suspected Golden State Killer. In the May 29 issue of theAnnals of Internal Medicine, Ben Berkman, J.D., and his colleague highlight the need: to alert users that their data may be used in criminal investigations (informed consent), for safeguards around potential uses of genomic data (privacy) and to limit criminal genealogy to crimes where other investigative methods have failed (justice). (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 28, 2018 Category: Genetics & Stem Cells Source Type: news

The NIH Undiagnosed Diseases Program celebrates 10 years of solving medical mysteries
The Undiagnosed Diseases Program (UDP), an initiative launched by NHGRI, the National Institutes of Health (NIH) Clinical Center and the NIH Office of Rare Disease Research, is celebrating 10 years of tackling the most challenging medical cases. The program kicked off in May 2008 with the mission of offering patients with perplexing conditions the hope of a diagnosis and the therapeutic treatments. Its unique strategy applies advanced genomic medicine technologies and multi-disciplinary medical expertise to unsolved health conditions. Happy 10th Birthday, UDP! (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 23, 2018 Category: Genetics & Stem Cells Source Type: news

83rd NHGRI Advisory Council met May 21st Live-- >
The National Advisory Council for Human Genome Research met in open session on Monday, May 21st. Dr. Green presented his Director's Report, a summary of the various activities across the Institute and the field of genomics. National Institute of General Medical Sciences (NIGMS) director Jon R. Lorsch, Ph.D., presented NIH's Strategic Plan for Data Science. NHGRI staff reported on updates to the Genome Sequencing Program and the Undiagnosed Diseases Program.Video will be available shortly. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 18, 2018 Category: Genetics & Stem Cells Source Type: news

83rd Advisory Council to Meet May 21st Live
The National Advisory Council for Human Genome Research will meet in open session on Monday, May 21st. Dr. Green will present his Director's Report, a summary of the various activities across the Institute and the field of genomics. National Institute of General Medical Sciences (NIGMS) director Jon R. Lorsch, Ph.D., will present NIH's Strategic Plan for Data Science. NHGRI staff will report on updates to the Genome Sequencing Program and the Undiagnosed Diseases Program.Live webcast will resume at 1:15 p.m. Eastern. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 18, 2018 Category: Genetics & Stem Cells Source Type: news

83rd NHGRI advisory council to meet May 21stLive-- >
The National Advisory Council for Human Genome Research will meet in open session on Monday, May 21st. Dr. Green will present his Director's Report. National Institute of General Medical Sciences (NIGMS) director Jon R. Lorsch, Ph.D., will present NIH's Strategic Plan for Data Science. NHGRI staff will report on updates to the Genome Sequencing Program and the Undiagnosed Diseases Program.Watch the open session live, beginning at 10:00 a.m. Eastern. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 18, 2018 Category: Genetics & Stem Cells Source Type: news

NHGRI Director Eric D. Green receives honorary degree from Washington University in St. Louis
Washington University in St. Louis awarded an honorary Doctor of Science degree to Eric D. Green, M.D., Ph.D., director of NIH's National Human Genome Research Institute, in recognition of his contributions to the field of genomics and its application to medicine. This is the third award given to Dr. Green by Washington University. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 16, 2018 Category: Genetics & Stem Cells Source Type: news

NHGRI celebrates National DNA Day with a round-up of genomics experts on Reddit Science
To commemorate the 15th anniversary of the completion of the Human Genome Project, NHGRI celebrated this year's National DNA Day with a Reddit Science "Ask Me Anything" (AMA) Series, sharing genomics expertise to explain the importance of genomics in our everyday lives. NHGRI kicked off the event on Friday, April 20, 2018, with National Institutes of Health (NIH) director, Francis Collins, M.D., Ph.D. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 16, 2018 Category: Genetics & Stem Cells Source Type: news

Genomic databases weakened by lack of non-European populations
Precision medicine will largely be built on vast troves of genomic information, but diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from Partners Healthcare/Harvard Medical School and the National Institutes of Health. They found significantly fewer studies of African, Latin American and Asian ancestral populations compared to European populations in two public databases. Findings were published online May 7 inHealth Affairs. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 8, 2018 Category: Genetics & Stem Cells Source Type: news

NHGRI Scientific Director Dan Kastner selected as finalist for 'Oscar' of government service
Dan Kastner, M.D., Ph.D., scientific director of NIH's National Human Genome Research Institute, has been selected as a finalist for the 2018Samuel J. Heyman Service to America Medals ("Sammie's"). He received this honor for identifying a new class of rare genomic diseases and treatments to alleviate suffering for thousands of patients in the United States and around the world. On May 8, the Partnership for Public Service will honor the 27 finalists. Medal recipients will be announced October 2 at a Washington, D.C., gala. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 7, 2018 Category: Genetics & Stem Cells Source Type: news

NHGRI Scientific Director Dan Kastner nominated for 'Oscar' of government service
Dan Kastner, M.D., Ph.D., scientific director of NIH's National Human Genome Research Institute, has been nominated as a 2018Samuel J. Heyman Service to America Medal ("Sammie's") finalist. He received theSammie's nomination for identifying a new class of rare genomic diseases and treatments to alleviate suffering for thousands of patients in the United States and around the world. On May 8, the Partnership for Public Service will honor the 27 finalists. Medal recipients will be announced October 2 at a Washington, D.C., gala. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 7, 2018 Category: Genetics & Stem Cells Source Type: news

NIH researchers link graying hair and the immune system
Researchers at the National Institutes of Health and the University of Alabama have discovered a connection between the genes that contribute to hair color and the genes that control the body's immune system. This new mouse study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.They published their findings May 3, 2018, inPLOS Biology. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 3, 2018 Category: Genetics & Stem Cells Source Type: news

Human Genome Project receives Thai 2017 Prince Mahidol Award
On January 31, 2018, the Human Genome Project (HGP) received a distinct and historic honor - the 2017 Prince Mahidol Award in the Field of Medicine. NHGRI Director, Dr. Eric Green, traveled to Bangkok, Thailand, to accept this prestigious award on behalf of the HGP. This month'sThe Genomics Landscape recounts the award event, as well as including information on the NHGRI budget, an editorial by Dr. Green penned to his daughter Abbey and a report on National DNA Day events. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 3, 2018 Category: Genetics & Stem Cells Source Type: news

Williams-Beurin syndrome added to Atlas of Human Malformation Syndromes in Diverse Populations
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to theAtlas of Human Malformation Syndromes in Diverse Populations. By adding highly accurate images and clinical information of diverse people with Williams-Beuren Syndrome, healthcare providers will better recognize and diagnose the rare disease in non-Europeans and deliver critical, early interventions and better medical care. Results are published in the May 2018 issue of theAmerican Journal of Medical Genetics. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - May 2, 2018 Category: Genetics & Stem Cells Source Type: news

Dr. Lita Proctor on NOVA Wonders
If you missed NGHRI and the Smithsonian National Museum of Natural HistoryHOT (Human Origins Today) Topic on April 27th, you can learn more on Wednesday, May 2nd onNOVA Wonders on PBS (check your local listings). NHGRI program director in the Division of Genome Sciences, Lita M. Proctor, Ph.D., who spoke on "Your Microbiome is a Part of this Microbial Planet" at the One Species Theatre is featured in the program. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 27, 2018 Category: Genetics & Stem Cells Source Type: news

Your microbiome is part of this microbial planet
Join us for a stimulating discussion as NGHRI partners with the Smithsonian's National Museum of Natural History (NMNH) for theirHOT (Human Origins Today) Topic public forum series. This National DNA Day event will take place today, Friday, April 27th, from 4:00 - 5:00 p.m. This year's speaker is NHGRI's own program director in the Division of Genome Sciences, Lita M. Proctor, Ph.D. Dr. Proctor's discussion topic is "Your Microbiome is a Part of this Microbial Planet". Attend at One Species Theater, Hall of Human Origins. Admisssion is free. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 27, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: The wonderful world of microbes!
The final Reddit AMA in the National DNA Day AMA series will be about all things microbes! Join us April 27th and learn about how microbes live everywhere and are linked to everything we do. The Rob Dunn Lab aims to tell the stories of the small microbes - whether on our bodies, in our bellies, under our beds or in our backyards - that humans interact with every day. This AMA describes tackling the unknown with the help of the public through citizen science research. Read all the questions and answershere. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 26, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: The Human Cell Atlas
On Thursday, April 26, the Human Cell Atlas Organizing Committee and Reddit Science will discuss "The Human Cell Atlas". Cells are the most fundamental unit of life, yet we know surprisingly little about them. A complete understanding of human cells could give us a unique "ID card" for each cell type, a three-dimensional map of how cell types work together to form tissues, and provide insight into how changes in the map underlie health and disease. Ask your questions about The Human Cell Atlas and join the conversation at 1:00 p.m. Eastern. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 26, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: The wonderful world of microbes!
The final Reddit AMA in the National DNA Day AMA series will be about all things microbes! Join us April 27th and learn about how microbes live everywhere and are linked to everything we do. The Rob Dunn Lab aims to tell the stories of the small microbes - whether on our bodies, in our bellies, under our beds or in our backyards - that humans interact with every day. This AMA describes tackling the unknown with the help of the public through citizen science research. Join the conversation at 1:00 p.m. Eastern. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 26, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: The Human Cell Atlas
On Thursday, April 26, the Human Cell Atlas Organizing Committee and Reddit Science will discuss "The Human Cell Atlas". Cells are the most fundamental unit of life, yet we know surprisingly little about them. A complete understanding of human cells could give us a unique "ID card" for each cell type, a three-dimensional map of how cell types work together to form tissues, and provide insight into how changes in the map underlie health and disease. Ask your questions about The Human Cell Atlas and join the conversation at 1:00 p.m. Eastern. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 26, 2018 Category: Genetics & Stem Cells Source Type: news

NHGRI-EBI GWAS Catalog turns 10!
The GWAS Catalog, a partnership between NHGRI and the European Bioinformatics Institute,celebrates its 10th anniversary on April 28. The Catalog is a curated resource of published genetic variation studies related to human health and disease, giving researchers a tool to investigate the impact of common variants on complex disease. As of March 13, the GWAS Catalog contained 4,971 published studies. Four published papers from the GWAS Catalog team have over 3,000 citations. Happy Anniversary, GWAS Catalog! (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 26, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: Ask a genetic counselor
On April 25th, the official date for National DNA Day, join Reddit and the National Society of Genetic Counselors and learn more about genetic counseling. Genetic counselors help people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. They interpret family and medical histories, educate about inheritance, testing and prevention, and promote informed choices. Join the conversationhere at 1:00 p.m. Eastern (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 24, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: Ask a genetic counselor
On April 25th, the official date for National DNA Day, join Reddit and the National Society of Genetic Counselors and learn more about genetic counseling. Genetic counselors help people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. They interpret family and medical histories, educate about inheritance, testing and prevention, and promote informed choices. Join the conversation at 1:00 p.m. Eastern (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 24, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: Ancient DNA and Conservation Genomics
On April 24th, the Smithsonian Conservation Biology Institute Center for Conservation Genomics will hold a Reddit AMA about how they use genomics and ancient DNA to better understand our natural world's past, present and future. Institute scientists apply genetic theory and methods to learn about the evolutionary and life histories of animals, understand the importance of genetic variation to their survival, and identify ways to sustain them in human care and in the wild. Starts livehere at 1:00 p.m. Eastern. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 24, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: Ancient DNA and Conservation Genomics
On April 24th, the Smithsonian Conservation Biology Institute Center for Conservation Genomics will hold a Reddit AMA about how they use genomics and ancient DNA to better understand our natural world's past, present and future. Institute scientists apply genetic theory and methods to learn about the evolutionary and life histories of animals, understand the importance of genetic variation to their survival, and identify ways to sustain them in human care and in the wild. Starts live at 1:00 p.m. Eastern (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 24, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: Personal Genetics and You
On Monday, April 23, Reddit and National DNA Day will hold an "Ask Me Anything" (AMA) session with representatives from personal genetics companies addressingPersonal Genetics and You. Fifteen years after the completion of the Human Genome Project, we can take a detailed look at our genome as easily as ordering a kit online, spitting into a tube or swabbing the inside of your cheek and sending it to a lab. At-home genetic testing is growing and can offer different aspects about what makes you, you! Find out what you can learn from testing your genome at home. The talk startshere at 1:00 p.m. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 20, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: Personal Genetics and You
On Monday, April 23, Reddit and National DNA Day will hold an "Ask Me Anything" (AMA) session with representatives from personal genetics companies addressingPersonal Genetics and You. Fifteen years after the completion of the Human Genome Project, we can take a detailed look at our genome as easily as ordering a kit online, spitting into a tube or swabbing the inside of your cheek and sending it to a lab. At-home genetic testing is growing and can offer different aspects about what makes you, you! Find out what you can learn from testing your genome at home. The talk starts at 1:00 p.m. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 20, 2018 Category: Genetics & Stem Cells Source Type: news

Reddit AMA: Dr. Francis Collins and the future of precision medicine
Former NHGRI Director Dr. Francis Collins, now director of the National Institutes of Health (NIH), earned a reputation as a gene hunter at the University of Michigan and led the successful completion of the Human Genome Project in 2003. Now, Dr. Collins manages the NIH's efforts in building innovative enterprises like the precision medicine initiativeAll of Us. This AMA will focus on Dr. Collins' experiences during the Human Genome Project and his vision for the future of precision medicine. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 19, 2018 Category: Genetics & Stem Cells Source Type: news

Annual National DNA Day lecture to honor Congresswoman Louise M. Slaughter
For NHGRI's National DNA Day on April 25, Olivier Noel, Ph.D., founder and CEO of DNAsimple, will present "Bench to Bedside to Business: A Talk on Startups in Science" for the newly named Louise M. Slaughter National DNA Day lecture, which honors the late Congresswoman. The media and the public are invited to attend at the Lister Hill Center Auditorium on the NIH campus. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 18, 2018 Category: Genetics & Stem Cells Source Type: news

Strategic Planning 'Virtual' Town Hall
On May 4th, from 12:00 p.m. - 1:30 p.m. Eastern, NHGRI will host a 'Virtual' Town Hall to kick off a new round of strategic planning to establish a '2020 vision for genomics.' Join us to provide feedback about the proposed elements of the strategic planning process itself, as well as current and future opportunities in genomics research and applications. Clickhere to register and be part of the conversation! (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 17, 2018 Category: Genetics & Stem Cells Source Type: news

NIH completes in-depth genomic analysis of 33 cancer types
Researchers funded by the National Institutes of Health (NIH) have completed a detailed analysis from a dataset containing molecular and clinical information on over 10,000 tumors from 33 forms of cancer. Known as the Pan-Cancer Atlas, and published as a collection of 27 papers across a suite ofCell journals, this analysis empowers cancer clinicians and researchers through a comprehensive understanding of how, where and why tumors arise in humans. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 5, 2018 Category: Genetics & Stem Cells Source Type: news

DNA Day 2018: Celebrate 15 ways genomics now influences our lives
On April 5th, NHGRI will launch the '15 for 15' Celebration to honor the 15th anniversary of the Human Genome Project's completion. Beginning April 5th, and each business day leading up to National DNA Day on April 25th, NHGRI will reveal one of 15 topics that illustrate the genomic developments made since the end of the Human Genome Project and emphasize the importance of genomics in people's lives. Learn how you can participate and celebrate 15 years of National DNA Day. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 4, 2018 Category: Genetics & Stem Cells Source Type: news

NHGRI joins USA Science and Engineering Fest
NHGRI will participate in the 2018 USA Science and Engineering Festival in Washington, D.C., April 7-8, 2018! Featuring hands-on genetics and genomics activities, NHGRI staff will also promote the 15th anniversary of National DNA Day, an annual celebration of the completion of the Human Genome Project in 2003. Visit the DNA Day team at Booth 1105-I in the Walter E. Washington Convention Center Saturday, April 7, from 10:00 a.m. - 6:00 p.m., and Sunday, April 8, from 10:00 a.m. - 4:00 p.m. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - April 2, 2018 Category: Genetics & Stem Cells Source Type: news

Remembering a genomics champion, Rep. Louise Slaughter
Today, Rep. Louise M. Slaughter (D-N.Y.), author of the Genetic Information Nondiscrimination Act of 2008 (GINA), passed away at the age of 88. Rep. Slaughter was a strong advocate for genomics research, and her work on GINA helped create protections against genetic discrimination in employment and health insurance. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - March 16, 2018 Category: Genetics & Stem Cells Source Type: news

DNA Day and NHGRI at NBC 4 Health and Wellness Expo
NHGRI is headed to the Nation's capitol for the NBC 4 Health and Fitness Expo. NHGRI will feature hands-on genetics and genomics activities to promote National DNA Day, an annual celebration of the completion of the Human Genome Project in 2003. Visit the DNA Day team at Booth #7040 in the Walter E. Washington Convention Center (Halls D& E) on Saturday, March 10, from 9:00 a.m. - 5:00 p.m., and Sunday, March 11, from 9:00 a.m. - 4:00 p.m. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - March 8, 2018 Category: Genetics & Stem Cells Source Type: news

Researchers pinpoint origin of sickle cell mutation
NHGRI researchers used whole genome sequence data to pinpoint the single origin of the sickle cell mutation to the "wet" period of the Sahara 7,300 years ago. The mutation causes blood hemoglobin to be crescent shaped, reducing its ability to carry oxygen. Charles N. Rotimi, Ph.D., study co-author and NHGRI senior investigator, said the finding overturns previous theories that the mutation arose in multiple locations. This will help clinicians redefine sickle cell subgroups and treat patients more effectively, said lead author Daniel Shriner, Ph.D. Read more in the March 8American Journal of Human Genetics. (Sour...
Source: NHGRI Homepage Highlights - March 8, 2018 Category: Genetics & Stem Cells Source Type: news

Developing a 2020 Vision for Genomics: NHGRI Launches New Round of Strategic Planning
This month'sThe Genomics Landscape features stories about NHGRI's new round of strategic planning to establish a 2020 vision for genomics; NHGRI's participation in the Americal Association for the Advancement of Science (AAAS) Annual Meeting Family Science Days; a new genomics resource for American Indian and Alaska Native Communities and new NIH Common Fund Programs such as the Human BioMolecular Atlas Program (HuBMAP) and the Somatic Cell Genome Editing program. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - March 8, 2018 Category: Genetics & Stem Cells Source Type: news

The 2018 Jeffrey M. Trent Lecture in Cancer Research
NHGRI's Division of Intramural Research will present the 14th Jeffrey M. Trent Lecture in Cancer Research on March 15, 2018, 12:00 - 1:00 p.m., at the Lipsett Amphitheater, Building 10 (Clinical Center), on the National Institutes of Health Bethesda campus. Joan Brugge, Ph.D., co-director, Ludwig Center at Harvard Medical School, will deliver the lectureRole of the TRPA1 Ca2+-permeable Channel in Oxidative Stress Defenses in Cancer. Video of this event will be available soon. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - March 6, 2018 Category: Genetics & Stem Cells Source Type: news

NIH researchers highlight virtual reality research on Reddit
Virtual Reality (VR) is a rapidly expanding area in tech and gaming. Now it's also playing an important role in medicine and health, expanding opportunities for researchers, clinicians and patients. Simulated experience can reduce stress, help doctors practice surgical techniques or allow medical students a way to practice their bedside manner in virtual scenarios. On February 23, NHGRI hosted a Reddit "Ask Me Anything" (AMA) with NIH researchers who use VR to study a host of research questions. Read our recap here. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - March 2, 2018 Category: Genetics & Stem Cells Source Type: news

Survey shows broad support for national precision medicine study
A recent survey designed to measure public attitudes about the Precision Medicine Initiative (PMI) Cohort Program has shown that most respondents were willing to participate in this nationwide research. The PMI Cohort Program is a longitudinal research effort that aims to engage 1 million or more U.S. participants to help improve prevention and treatment of disease. The results were published online August 17 inPLOS ONE. NHGRI's David Kaufman, Ph.D., led the research. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 18, 2016 Category: Genetics & Stem Cells Source Type: news

Seeking: Director, Division of Genome Sciences
The National Human Genome Research Institute a component of the National Institutes of Health (NIH) and the Department of Health and Human Services (DHHS), is seeking exceptional candidates for the position of Director, Division of Genome Sciences. The ideal candidate will have the knowledge and expertise to lead NHGRI's funding for extramural research and training that is aimed at advancing the understanding of the structure and function of genomes and their implications for biology and disease etiology. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 17, 2016 Category: Genetics & Stem Cells Source Type: news

Sardinian dog genome reveals a shared ancestral homeland with humans
The genetic origins of a fierce Sardinian dog (also called Fonni's dogs for the city of the same name) mirror recent studies that also traced the genetic origins of human Sardinians to the Middle East and Hungary, according to scientists at the National Human Genome Research Institute. Sequencing the whole genome of Fonni's dogs revealed clues about the migration of humans to the area. Findings were reported August 12 in the journalGenetics. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 15, 2016 Category: Genetics & Stem Cells Source Type: news

From Bedside Back to Bench: Bringing Genomic Medicine Full Circle
August is a quiet month in D.C., but once the fall begins, our heads will spin with important events: the last Fiscal Year 2016 meeting of the National Advisory Council for Human Genome Research, developments from the Precision Medicine Initiative and all the latest news in genomics! This issue ofThe Genomics Landscape features NHGRI's ninth Genomic Medicine Meeting, highlights a meeting with Israeli research leaders and provides an opportunity to comment on new guiding principles for DNA sequencing-based clinical tests. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 9, 2016 Category: Genetics & Stem Cells Source Type: news

New tools to determine copy number variations raise questions about reproducibility
Copy number variations (CNVs) - large segments of DNA that have been duplicated or deleted - play a role in disease susceptibility and drug response. New tools exist that examine the prevalence of CNVs in the protein-coding part of the genome, but their accuracy remains unknown. A new study from NHGRI investigators looks at the reproducibility of the results from the most current tools and finds that further improvements are necessary. The research was published in the August 8 edition ofGenome Medicine. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 9, 2016 Category: Genetics & Stem Cells Source Type: news

How much does it cost to sequence a genome?
A question often posed to NHGRI staff is "How much does it cost to sequence a human genome?" This is timely, as human genome sequencing expands from research tool to major clinical diagnostic test. To help everyone understand the cost, NHGRI recently developed a summary and infographic calledThe Cost of Sequencing a Human Genome to clarify how the cost of generating a human genome sequence is calculated. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 4, 2016 Category: Genetics & Stem Cells Source Type: news