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Highlights Archive

Dr. Eric Green (middle) at the council meeting

85th NHGRI Advisory Council met Feb. 11th

The National Advisory Council for Human Genome Research met in open session on Monday, February 11th. Dr. Eric Green presented his Director's Report, a summary of the various activities across the Institute and the field of genomics. The Council heard presentations about other initiatives underway in the genomics research community, updates from two of its working groups, and reports from staff on current and future developments for NHGRI research programs. Video of the event is now available.

Posted: February 10, 2019
Eric Green

Bill Gahl Steps Down as NHGRI Clinical Director to Pursue Research

In this month's issue of The Genomics Landscape, NHGRI Director Dr. Eric Green recognizes Dr. Bill Gahl's signature professional achievements during his tenure as NHGRI Clinical Director. Other topics include the NIH Undiagnosed Diseases Network being featured in the New York Times; the video recording from the 'From Genome to Phenotype' Worhsop is now available; and the National DNA Day Essay Contest is open through March 8, 2019.

Posted: February 07, 2019
Artificial DNA

NIH's new automated tool-set detects disease-causing genes in undiagnosed patients

Researchers with the National Institutes of Health Undiagnosed Disease Program have developed a powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically accomplished by computers - with no human interpretation or bias - and takes about three hours per exome, an individual's protein-coding genes.

Posted: February 05, 2019
Chuck Venditti with MMA patient

Patients and their families work with NIH researchers to advance MMA research

Dr. Chuck Venditti, a senior investigator in the National Human Genome Research Institute, is working with the largest group of people affected by methylmalonic acidemia (MMA). The disease impairs an individual's ability to break down and process protein in their food. As a result, toxic acids can build up in the bloodstream and cause serious health problems. Dr. Venditti and his dedicated research team will soon begin clinical trials to test several new genomic treatments.

Posted: February 04, 2019
Student writing an essay

The 2019 National DNA Day Essay Contest is open!

Geared to students in grades 9-12 worldwide, the American Society of Human Genetics DNA Day Essay Contest celebrates National DNA Day by asking students to examine, question, and reflect on important concepts in genetics. This year's question asks students if a medical provider should disclose a patient's medical information to close relatives after receiving a diagnosis. Deadline: March 8, 2019 at 5:00 p.m. U.S. Eastern Time. Winners will be announced on National DNA Day, Thursday, April 25, 2019.

Posted: January 24, 2019

NHGRI Strategic Planning Workshop

On January 22-24, NHGRI will host a workshop - From Genome to Phenotype: Genomic Variation Identification, Association, and Function in Human Health and Disease - to seek input from a range of scientific perspectives on one of the central issues in human genomics - relating genomic variation to phenotype. This workshop is one of a series of activities devoted to strategic planning for NHGRI. Watch the live webcast.

Posted: January 22, 2019
Eric Green

Mourning the Loss of an NIH Giant, NIAMS Director Steve Katz

In the January 2019 issue of The Genomics Landscape, NHGRI Director Dr. Eric Green honors the legacy of long-time Director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Stephen (Steve) I. Katz, M.D., Ph.D. after he passed away in December 2018. Other topics include research supplements to promote diversity in health-related research and the recently-published workshop report for the Genomic Medicine XI Meeting: Research Directions in Genomic Medicine Implementation.

Posted: January 10, 2019
William Gahl

After 16 years, Dr. Gahl steps down as NHGRI intramural clinical director to focus on research

William A. Gahl, M.D., Ph.D., has stepped down as clinical director of NHGRI's Division of Intramural Research (DIR). Dr. Gahl has nurtured and promoted clinical research in the NHGRI DIR since 2002. He also founded and has directed the NIH Undiagnosed Diseases Program since 2008. Dr. Gahl will continue his research in NHGRI's Medical Genetics Branch and Human Biochemical Genetics Section. NHGRI Scientific Director Dan Kastner, M.D., Ph.D., will serve as acting clinical director while NHGRI launches a major search for Dr. Gahl's replacement.

Posted: January 03, 2019
Sickle Cells

Sickle cell disease community is hopeful that genome editing will rechart course of the disease

In the first study of its kind, NHGRI researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease. Study participants expressed overall optimism about participating in human genome editing clinical trials, but were concerned about treatment risks and transparency of the research enterprise, according to the findings published December 24 in Genetics in Medicine.

Posted: January 03, 2019
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 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
Scientific Data Management

Providing access to genomic summary results

The National Institutes of Health has updated its Genomic Data Sharing Policy to again allow unrestricted access to genomic summary results for most of the studies it supports. These summary results come from analyzing pooled genomic data from multiple individuals together to generate a statistical result for the entire dataset. Such information can be a powerful tool for helping researchers determine which genomic variants potentially contribute to a disease or disorder. Read the blogpost co-authored by NHGRI Director Eric Green

Posted: November 01, 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