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Highlights Archive

Eric Green

New NHGRI grant program to support innovative genomic scientists

In the August issue of The Genomics Landscape, NHGRI Director Eric Green announces the recent launch of a new program - the NHGRI Genomic Innovator Award - that aims to assist "team science" researchers in establishing their independent careers. Also up: the 15th anniversary of The Genetics Home Reference, a National Library of Medicine (NLM) consumer health resource, and a big move for NHGRI's extramural research program.

Posted: August 09, 2018
Stacy Desine

NHGRI's Stacy Desine first postbac to win 2018 TmT competition

Every year, graduate students and postdocs at the National Human Genome Research Institute (NHGRI) and other institutes at the National Institutes of Health compete in a high-energy science communications contest called the Three-Minute Talk (TmT). For the first time in competition history, all the participating institutes agreed to allow postbacs to compete in the TmT finals. NHGRI's Stacy Desine earned first place after the finals on June 29, 2018, becoming the first postbac to win the TmT competition.

Posted: July 17, 2018
Hunting Dogs

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).

Posted: July 05, 2018
Eric Green

The NIH Undiagnosed Disease Program Celebrates its 10th Anniversary!

In the July issue of The 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.

Posted: July 05, 2018
Elaine Ostrander

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 in Nature Genetics, on DNA samples from more than 140,000 men.

Posted: June 12, 2018
Eric Green

The Cancer Genome Atlas: Charting the Course for Cancer Research

In the June issue of The 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 the All 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.

Posted: June 07, 2018
Francis Collins talks about TCGA

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, 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.

Posted: May 31, 2018
Sharpenia Patient at the Clinical Center

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 of Bangalore, India. This patient's story highlights what the NIH Clinical Center can do that's hard to do somewhere else. Using mechanistic studies and genome sequencing to inform patient care - that's unique to NIH.

Posted: May 30, 2018
criminal geneology

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 the Annals 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).

Posted: May 28, 2018
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