Search Results
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 …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… Chatzi*, Max Aung, Fotini Mitsinikos, Nathan Pavlovic, David Conti, Alaina Vidmar, Tanya Alderete University of …
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
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 …
For Health Professionals
The ISCC-PEG Pharmacogenomics (PGx) Project Group has developed peer-reviewed online education for healthcare practitioners to advance pharmacogenomics in clinical practice.
… Cyrine-Elaina Haidar, PharmD, BCPS, BCOP, FASHP and David Kisor, PharmD, FCP This module educates healthcare …
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 February 2020.
… 11 Mourning the Loss of Jo Messing 12 Mourning the Loss of David Hogness 13 2019 American Society of Human Genetics …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… Metabolism An article published at Genereviews.org by David Adams, M.D., Ph.D. and study clinical director Charles …
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 …