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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 …
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 …
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 …
The Genomics Landscape
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.
… Research NHGRI's Oral History Collection: Interview with David Schlessinger Funding News Clarification: Fixed Amount …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… research across the African continent. Sarah is the David and Lyn Silfen University Professor in Genetics and …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
The Genomics Landscape
In the August 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the NHGRI Extramural Research Program and how it takes a dynamic approach to it's research portfolio to help foster groundbreaking advances in genomics.
… Effect” to Genes of Small Effect: Celebrating the Work of David Depew Funding Opportunities Small Business Innovation …
The Genomics Landscape
In the September 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details how social media provides NHGRI staff with a space to talk about their work, make genomics topics easy to understand, and show how genomics can positively affect people.
… Effect’ to Genes of Small Effect: Celebrating the Work of David Depew NHGRI 2021 Three Minute Talks (TmT) Funding …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… Genome Project launch: interviews with genomics leaders – David Bentley , Charles Rotimi , Deanna Church and Harris …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… Unit Spatially Segmented Single-cell RNA sequencing David Morse Postbaccalaureate Fellow, National Center for …