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Event
On October 25-29, 2022, 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.
… Rare Disease Phenotyping: What is Next? Board No. PB3237 David Adams Convention Center, South Exhibit Hall 3:00 p.m. — … in the All of Us Research Program Board No. PB2109 David Schlueter Convention Center, South Exhibit Hall 3:00 … of coding variants, from benchtop to desktop David Adams Convention Center, Petree C/West Building 5:15 …
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 …
Research Funding
CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care.
… of Washington Gail Jarvik, Peter Tarczy-Hornoch, David Veenstra, Stephanie Fullerton, Deborah Nickerson … into decision support. Outcomes and Measures Chairs: David Veenstra and Stacy Gray Mission: Coordinate …
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 …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… “The difference is night and day,” said Jojo’s father, David. “Looking at the girl she was before and how she is …
Research at NHGRI
CRGGH develops a comprehensive staff and training program that uses genomic approaches to study human health and to reduce/eliminate health disparities.
… Laboratory Service and University of the Witwatersrand David R. Williams, M.P.H., Ph.D. Florence & Laura Norman …
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
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 …
The Genomics Landscape
In the August 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes the recipients for the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor given by the U.S. Government to outstanding scientists and engineers who are beginning their independent research careers.
… awardee funded by NHGRI’s Extramural Research Program, Dr. David Yu Zhang , is the Ted Law Jr. Assistant Professor in …
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 …