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Highlights Archive

UPD 10th Anniversary

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!

Posted: May 23, 2018

83rd NHGRI Advisory Council met May 21st

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.

Posted: May 18, 2018
Eric Green

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.

Posted: May 16, 2018
Francis Collins

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.

Posted: May 16, 2018
Aerial shot of a large group of people

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 in Health Affairs.

Posted: May 08, 2018
Dan Kastner

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 2018 Samuel 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.

Posted: May 07, 2018
Gray mouse fur

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, in PLOS Biology.

Posted: May 03, 2018
Eric Green

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's The 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.

Posted: May 03, 2018
Williams-Beurin  Syndrome

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 the Atlas of Human Malformation Syndromes in Diverse Populations. By adding accurate images and clinical information of diverse people with Williams-Beuren Syndrome, healthcare providers will better recognize and diagnose the disease in non-Europeans and deliver critical, early intervention and better medical care. Results are in the May 2018 American Journal of Medical Genetics.

Posted: May 02, 2018
Lita Proctor

Dr. Lita Proctor on NOVA Wonders

If you missed NGHRI and the Smithsonian National Museum of Natural History HOT (Human Origins Today) Topic on April 27th, on Wednesday, May 2nd on NOVA Wonders on PBS, 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.

Posted: April 27, 2018
Cell Atlas

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.

Posted: April 26, 2018
10th Anniversary of GWAS Catalog

NHGRI-EBI GWAS Catalog turns 10!

The GWAS Catalog, a partnership between NHGRI and the European Bioinformatics Institute, celebrated 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!

Posted: April 26, 2018

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 answers here.

Posted: April 26, 2018
Natural World

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 here at 1:00 p.m. Eastern.

Posted: April 24, 2018
Rare Diseases

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 here at 1:00 p.m. Eastern

Posted: April 24, 2018
DNA Home Kit

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 addressing Personal 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 here at 1:00 p.m.

Posted: April 20, 2018
Francis Collins

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 NIH's efforts in innovative enterprises like the precision medicine initiative All of Us. This AMA will focus on Dr. Collins' experiences during the Human Genome Project and his vision for the future of precision medicine.

Posted: April 19, 2018
Olivier Noel

Annual National DNA Day lecture honors Congresswoman Louise M. Slaughter

For NHGRI's National DNA Day on April 25, Olivier Noel, Ph.D., founder and CEO of DNAsimple, presented "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 attended at the Lister Hill Center Auditorium at 4:00 p.m. Eastern on the NIH campus.

Posted: April 18, 2018

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. Click here to register and be part of the conversation!

Posted: April 17, 2018
Tumor Cells in Circulatory System

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 of Cell journals, this analysis empowers cancer clinicians and researchers through a comprehensive understanding of how, where and why tumors arise in humans.

Posted: April 05, 2018
Girl celebrating DNA Day

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.

Posted: April 04, 2018
Child with a magnifying glass

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.

Posted: April 02, 2018
Louise Slaughter

Remembering a genomics champion, Rep. Louise Slaughter

On March 16, 2018, 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.

Posted: March 16, 2018
Health and Wellness Expo

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.

Posted: March 08, 2018
Sickle cell

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 8 American Journal of Human Genetics.

Posted: March 08, 2018
NHGRI Director Eric Green

Developing a 2020 Vision for Genomics: NHGRI Launches New Round of Strategic Planning

This month's The 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.

Posted: March 08, 2018
Joan Brugge

The 2018 Jeffrey M. Trent Lecture in Cancer Research

NHGRI's Division of Intramural Research presented the 14th Jeffrey M. Trent Lecture in Cancer Research on March 15, 2018, 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, delivered the lecture Role of the TRPA1 Ca2+-permeable Channel in Oxidative Stress Defenses in Cancer. Video is now available.

Posted: March 06, 2018
Susan Persky

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.

Posted: March 02, 2018

NIH pilot project will match researchers to genes, gene variants of interest

The National Institutes of Health and Inova have launched a new match-making service between genes and gene variants and the researchers who study them. The Genomic Ascertainment Cohort (TGAC) project will be based in the Washington, D.C., area so that researchers can recall genotyped participants to examine the genes and gene variants that influence their phenotype.

Posted: March 01, 2018
Carolyn Hutter

Dr. Carolyn Hutter to lead NHGRI's Division of Genome Sciences

The National Human Genome Research Institute (NHGRI) has appointed Carolyn Hutter, Ph.D. the director of the Division of Genome Sciences - the NHGRI division that leads research aiming to understand the function of the human genome in health and disease, and seeks technologies that facilitate genomic discoveries. Dr. Hutter comes to the position with extensive experience leading large-scale genomics research programs.

Posted: February 20, 2018