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News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
Statement
NHGRI Director, Eric Green, M.D, Ph.D., provides remarks for the May 10, 2023 media briefing about the new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available.
National Advisory Council for Human Genome Research
The Director's Report-Related Documents contain links to materials supplemental to Dr. Eric Green's Director's Report presentation to the National Advisory Council for Human Genome Research in May 2023.
Leadership Initiatives
The 2021 NHGRI Action Agenda for a diverse genomics workforce is an ambitious set of goals and objectives to enhance the representation individuals from diverse backgrounds including those from underrepresented groups in the genomics workforce. The Action Agenda: Progress Report and Implementation Plan details the programs and projects that have been enacted since its release.
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
Infographic
An infographic that explains why we need a new human pangenome reference.
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
For Health Professionals
The ISCC-PEG Project Groups have developed resources, presentations for national meetings, and published articles and abstracts.