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News Release
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… Precision Medicine Research Into Practice * Dr. David R. Williams , Florence Sprague Norman and Laura Smart …
Event
NHGRI is hosting a workshop - Identifying Research Priorities to Accelerate genetic Diagnosis - on April 16-17, 2024.
… Jennifer Troyer, NHGRI 1:00 PM – Setting the Stage David Adams, NHGRI 1:15 PM – Panel Discussion David Adams, NHGRI Garry Cutting, Johns Hopkins University …
Leadership Initiatives
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… Effect” to Genes of Small Effect: Celebrating the Work of David Depew July 29, 2021 NHGRI History of Molecular …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… known from news stories and a movie in the 1980s about David, the Boy in the Bubble, who was born without a working … infections by viruses, bacteria and fungi. Because David's brother had died of the disease, doctors immediately … He lived in such isolators for nearly 13 years. David died in 1984 following an unsuccessful bone marrow …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… University of Maryland School of Medicine, Baltimore David V. Conti, Ph.D. University of Southern California, Los …
Talking Glossary
This updated version of the Talking Glossary of Genomic and Genetic Terms was made possible through the skills, expertise, advice and contributions from many individuals.
… Chris Gunter Christopher Donohue Dan Gilchrist Daphne Bell David Adams Ebony Madden Elaine Ostrander Ellen Sidransky …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… research study on lung cancer. (Cancer Genetics) 2813W. David Bernard: Functional characterization of deleterious … Chinese. (Complex Traits and Polygenic Disorders) 1816W. David R. Adams: The NIH Undiagnosed Diseases Program approach …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… . Other co-authors include: Katie Lewis, Sc.M., David Ng, M.D., Larry Singh, Ph.D., Jamila Wynter, Steven … Institute of Diabetes and Digestive and Kidney Diseases; David Cooper, Ph.D., Peter Stenson, Cardiff University, U.K.; …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
… Adya N, Orlic D, Dutra A, Anderson S, Owens J, Eckhaus M, Bodine D, and Liu PP. Chromosome 16 inversion-generated …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… Wong C, Steiner LA, Garrett LJ, Elnitski L, Gallagher PG, Bodine DM. Functional analysis of a novel cis-acting …