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The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… a grant from the NHGRI Extramural Research Program to David Reich, Ph.D. , who is a faculty member at Harvard …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… exists in the mitochondria. This work was led by NHGRI’s David Bernard and Darren Walsh, a graduate student at Dublin …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… new, mutations causing Mendelian disease," said co-author David Valle, M.D., director of the McKusick-Nathans Institute …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… , Durham, North Carolina; Principal Investigators: David B. Goldstein, Ph.D, and Vandana Shashi, M.D. Stanford …
Event
NHGRI workshop seeking scientific perspectives for relating genomic variation to human phenotype.
… Health and Disease Panel: Barbara Stranger Anshul Kundaje David Valle Moderator: Michael Boehnke 4:45 - 5:30 p.m. Topic …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… $11.6 million, four years Principal Investigators: David Valle, M.D. (Johns Hopkins University) and James …
Event
On March 13-14, 2017, the National Human Genome Research Institute (NHGRI) in partnership with the Foundation for the National Institutes of Health (FNIH) hosted a strategic visioning meeting for a proposed GLEE Initiative.
… Discovery World Cindy Encarnacion St. Louis Science Center David Evans National Science Teachers Association (NSTA) Jim … North Carolina School of Medicine Matt Ferber Mayo Clinic David Flannery American College of Medical Genetics (ACMG) …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… expands the phenotypic spectrum of disease. PB3464 David Bernard Vitamin B12-deficient mice lacking the … Gene Therapy Education for Patient Communities. PB2369 David Adams Development of a comprehensive framework for …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… Among the featured researchers are Bill Gahl, M.D., Ph.D., David Adams, M.D., Ph.D., and Cyndi Tifft, M.D., Ph.D., among …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… in the Inborn Errors of Vitamin B12 (cobalamin) Metabolism David S. Rosenblatt, M.D. 10:30 - 10:45 a.m. High-Dose B12 … M.D., Ph.D., Senior Investigator, NHGRI Panelists: David S. Rosenblatt, Harvey Levy, Marzia Pasquali, Martina …