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Highlights Archive

Eric Green

'Genomics2020': Taking Stock

In the December issue of The Genomics Landscape, NHGRI Director Dr. Eric Green recaps progress from NHGRI strategic planning process events in 2018. Other topics include: Examining How Race, Ethnicity, and Ancestry Data Are Used in Biomedical Research; the Workshop to Increase Access and Utilization of ENCODE Data; and a collection of papers on "Genomics and the Human Genome Project" that was recently published in a special issue of the Journal of the History of Biology.

Posted: December 06, 2018
An electron micrograph showing abnormally shaped and structured mitochondria in the liver of a mutant mouse that models methylmalonic acidemia. Image credit: Patricia M. Zerfas, NIH Office of Research Services.

Elevated hormone flags liver problems in mice with methylmalonic acidemia (MMA)

NHGRI researchers have discovered a hormone in a mouse study that can be used immediately to can help doctors predict how severely patients with the rare disease methylmalonic acidemia are affected and when to refer them for liver transplants. The findings, published December 6 in JCI Insight, also might shed light on more common disorders such as fatty liver disease, obesity and diabetes.

Posted: December 04, 2018
Doctor and genetic data

FDA recognizes NHGRI's ClinGen, dataset that ties genetic variants to disease

For the first time, the Food and Drug Administration has formally recognized a public dataset of genetic variants and their relationship to disease to help accelerate the development of reliable genetic tests. Genetic test makers, including those using next-gen sequencing, can use genetic variant information in the Clinical Genome Resource (ClinGen) to support clinical validity in premarket submissions to FDA. ClinGen is administered by the National Human Genome Research Institute, part of the National Institutes of Health, and is available via ClinVar.

Posted: December 04, 2018
Andy Baxevanis

NHGRI's Dr. Andy Baxevanis named Fellow of the American Association for the Advancement of Science

Andy Baxevanis, Ph.D., a senior scientist leading the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of the American Association for the Advancement of Science (AAAS). Dr. Baxevanis was recognized for his distinguished contributions to the field of comparative genomics, particularly for using computational approaches to study the molecular innovations driving diversity in early animal evolution.

Posted: November 27, 2018
Mongolian Genomes

NHGRI joins international team to sequence Mongolian genomes

North Asians, including Mongolians and other Siberian ethnic groups, may be more closely related to Eastern and Northern Europeans - including the people of Finland - than previously thought, according to a new genomics study in Nature Genetics. The international team of researchers, including those from the National Human Genome Research Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing genetic variation data.

Posted: November 05, 2018

New technique promising for a more accurate genome sequence

Researchers at the National Institutes of Health (NIH) and the United States Department of Agriculture (USDA) have developed a new technique that will aid in a more accurate reconstruction of genomes, specifically in determining the sections of the genome that come from each parent. This new technique, published in the journal Nature Biotechnology, will allow researchers to identify further complexity within any type of genome - from plants to humans - and provide more precise reference genomes in researcher databases than are currently available.

Posted: October 22, 2018
William Gahl and Charles Rotimi

Drs. William A. Gahl and Charles N. Rotimi elected into the National Academy of Medicine

The National Academy of Medicine welcomed two NHGRI senior investigators, William A. Gahl, M.D., Ph.D., and Charles N. Rotimi, Ph.D. Recognized as one of the highest honors scientists can receive, members elect new recruits based on their accomplishments in advancing medical science. As a medical geneticist, Dr. Gahl focuses on rare metabolic disorders and the discovery of new genomic diseases. Dr. Rotimi probes the genomic causes of disease and health disparities in a cultural context.

Posted: October 13, 2018
Eric Green

NIH programs shed light on gene variants and their connections to health and disease

NIH's Clinical Genome Resource (ClinGen) and ClinVar programs are addressing a major barrier to incorporating genomic medicine into healthcare, which is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation, published on Oct. 12, highlights the broad array of advances made through these programs, which work in concert to advance knowledge connecting human genomic variation to human health.

Posted: October 12, 2018
Eric Green

Dr. Dan Kastner honored as Federal Employee of the Year

In the October issue of The Genomics Landscape,, NHGRI Director Dr. Eric Green highlights the Partnership for Public Service honoring Dr. Dan Kastner as the Federal Employee of the Year. Other topics include: the new Omics Nursing & Science Education Network (ONSEN) web-based resource, the new ASHG-NHGRI Genomics & Public Policy and Genetics Education & Engaement fellows, and the retirement of Human Micorbiome Project leader, Dr. Lita Proctor.

Posted: October 04, 2018
Charles Rotimi

NHGRI's Dr. Charles Rotimi named a 2018 Quartz Africa Innovator

Charles Rotimi, Ph.D., director of NHGRI's Center for Research on Genomics and Global Health, has been named one of the Quartz Africa Innovators of 2018. Each year, this news editorial features 30 African leaders making an impact on their communities, countries and ultimately the continent. Dr. Rotimi was recognized for his work in understanding the information coded in our DNA to shed light on human migration history within and outside of Africa.

Posted: October 03, 2018
Dan Kastner

NHGRI Scientific Director Dan Kastner Named 2018 Federal Employee of the Year

Dan Kastner, M.D., Ph.D., was named the Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program, known as the "Sammies." Dr. Kasnter is recognized for his work in identifying an entire new class of rare genetic diseases and treatments to alleviate suffering for thousands of patients in the U.S. and around the world.

Posted: October 02, 2018
Undiagnosed Diseases Map

The NIH Undiagnosed Diseases Network expands

The NIH Common Fund has expanded the Undiagnosed Diseases Network (UDN) from seven to 12 clinical sites, increasing the geographical distribution of the nationwide network and the number of people with access to a UDN clinical site. The new awards are part of the second phase of the project aimed at improving and accelerating the diagnosis of rare and undiagnosed conditions. The UDN has diagnosed more than 200 cases since opening to applications in 2015.

Posted: September 24, 2018
Diverse group of people

NIH leaders call consensus on use of race and ethnicity data in biomedical research

The use of racial and ethnic categories in biomedical research is part of a complex and sometimes contentious conversation about how science and society talk about human variation. In a commentary published September 24 in the Journal of the American Medical Association, NIH leaders have called on the scientific community to develop and adopt consensus practices for the use of race, ethnicity, social determinants of health, and ancestry data in study design, interpretation of results, publications and medical care.

Posted: September 24, 2018

84th NHGRI Advisory Council to meet Sept. 24th

The National Advisory Council for Human Genome Research will meet in open session on Monday, September 24th. Dr. Green will present his Director's Report, a summary of the various activities across the Institute and the field of genomics. University of Utah's Professor of Pediatrics, Jeff Botkin, M.D., M.P.H., will present the Genomics and Society Working Group Report. NHGRI staff report on updates to the Human Genome Reference Program and Genomic Medicine Working Group Activities in 2018.

Posted: September 23, 2018
Diverse group of people

Perspective discusses the importance diversity in research to help further precision medicine

The scientific and ethical benefits of incorporating health information from diverse and underrepresented populations in genomic medicine are described in a Perspective by co-authors Dr. Lucia A. Hindorff and Mr. Vence L. Bonham, NIH's National Human Genome Research Institute, and Dr. Lucila Ohno-Machado, University of California, San Diego. Their recommendations for incorporating diversity into the evidence base for genomic medicine appeared in the Sept. 13, 2018 issue of Future Medicine. Read the Q&A with Dr. Ohno-Machado.

Posted: September 14, 2018
Eric Green

Educational Videos Use Poetry, Dance, Animation and Storytelling to Teach Elements of Genomics

The September issue of The Genomics Landscape highlights five new educational videos that were unveiled as a part of the '15 for 15' celebration to commemorate the 15th annivarsary of the completion of the Human Genome Project. Also highlighted: the new NHGRI-funded Analysis, Visualization, and Informatics Lab-space (AnVIL) initiative, the passing of Professor Bongani Mayosi, and the recent launch of the All of Us Research Hub.

Posted: September 06, 2018
Genomic Medicine 11 art

Genomic Medicine XI: Research Directions in Genomic Medicine Implementation

Join us on September 6, 2018, for the live webcast of the Genomic Medicine XI: Research Directions in Genomic Medicine Implementation meeting. Speakers will: summarize the current status of genomic medicine implementation research; identify obstacles to genomic medicine implementation and how to overcome them; define where clinical implementation of genomic medicine could or should be 5-10 years from now and how to get there; and inform the NHGRI strategic planning process regarding genomic medicine.

Posted: September 04, 2018
Nursing professionals

NIH institutes create online Omics Nursing Science & Education Network (ONSEN)

NHGRI, NINR and NCI have created a new website, the Omics Nursing Science & Education Network (ONSEN). Omics is the field of research focused on genomics, metabolomics, proteomics and the microbiome. Initiated from the nursing research genomics community, the website includes a searchable database of Omics projects and aims to foster collaborations among investigators in all disciplines. The website also provides opportunities to identify research mentors and pre/post-doctoral opportunities in Omics.

Posted: September 04, 2018
Thanksgiving Dinner

My Family Health Portrait (MFHP) has a new home

Starting September 6, 2018, My Family Health Portrait (MFHP) is moving to the Centers for Disease Control and Prevention's Public Health Genomics Knowledge Base (PHGKB) website. For more than a decade, the tool has been hosted by NHGRI, allowing users to create a family health history to identify inheritance patterns across family members and manage personal disease risk. The My Family Health Portrait tool was developed by NHGRI, the CDC, and other partners.

Posted: August 31, 2018
The image shows an exaggerated immune response in the gut in a mouse model of Activated PI3 Kinase Syndrome, which is associated with increased production of antibodies against both gut bacteria and self (autoantibodies and autoimmunity).

Researchers develop mouse model for study of human immunodeficiency disease

NHGRI and NIAID researchers developed a new mouse model of a human immunodeficiency disease caused by mutations to the gene PI3-kinase delta. Treating these mutant mice with broad antibiotics prevented both the hyper-reactivity of their lymphocytes (white blood cells that are part of the immune system) and the generation of a wide range of autoantibodies. The findings, published in Nature Immunology, have broad implications for a people with immunodeficiencies and autoimmune conditions.

Posted: August 21, 2018
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