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News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… the U.S. Food and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in … One of the new sickle cell treatments uses the CRISPR gene-editing system, a first for humans in the U.S. NIH … The Democratizing Education for Sickle Cell Disease Gene Therapy Project , a collaborative effort that aims to help …
Staff
Dr. Philip Shaw was an investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
… Next we use these heritable brain phenotypes for both gene discovery (through GWAS) and gene understanding. Translational studies: We are attempting … National Human Genome Research Institute. … Philip Shaw, gene-environment interactions, attention deficit …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… out of the lysosome. Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to … aciduria type III, HPS-2, HPS-3 and HPS-9. The gene responsible for HPS-9, PLDN encodes pallidin, a member … identified NBEAL2 as the gray platelet syndrome (GPS) gene. GPS platelets have no alpha granules, which store …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to see a 20-minute preview of the “Ken Burns presents The Gene: An Intimate History” documentary. Specifically, on Feb. … and feature patient voices … Special preview of “The Gene” documentary at 2020 AAAS Annual Meeting … NHGRI to host … in Genomic Science (CEGS), Rare Disease Day, The Gene, South by Southwest … In the January 2020 edition of The …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… Food and Drug Administration (FDA), which approved two gene therapies for the treatment of sickle cell disease. … region of the angiotensin-converting enzyme 2 (ACE2) gene, which encodes the cellular receptor for SARS-CoV-2. In … Data Science Research NIH statement on new FDA-approved gene therapies for sickle cell disease NHGRI searches for new …
The Genomics Landscape
In the July 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes the inaugural class of the ASHG-NHGRI Genomics and Public Service Fellowship Program.
… best, … Effect of genomic and cellular environments on gene expression noise Hong, et al. Genome Biol. , 2024 May, … proteins. One of the first steps of this process, called gene expression, involves copying DNA into RNA. While this is … for targeting genome editing, such as that used for gene therapy. This research was funded in part by the NIH with a …
Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… Krystyna Keller Postbaccalaureate Fellow, Koehly Lab Gene Expression & Bioinformatics for Prenatal Therapy in Down Syndrome Sarah E. Lee Postdoctoral Fellow, … Fellow, Health Disparities Unit Cardiac Strain in the GENE-FORECAST Albert Barrera Postbaccalaureate Fellow, …
The Genomics Landscape
In the July 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., emphasizes the importance of the Technology Transfer Office and its mission to manage all the legal negotiations that help to protect federally funded research from being unduly exploited, while also giving that research avenues to reach patients through the commercialization of promising advances.
… with her then-boss Richard Maraia in studying a gene on human chromosome 7. This led to a publication on … the commercialization of promising advances, such as gene therapies, pharmaceutical drugs, novel technologies, … search by scientific area. … Genomics Research Gene therapy for rare eye disease safe but lacks efficacy in early …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Tractography Correlate with Clinical Outcomes Following Gene Therapy for GM1 Gangliosidosis: New Biomarker for …
Careers and Training
The Health Disparities Unit (HDU) in the Social and Behavioral Research Branch (SBRB) of the National Human Genome Research Institute (NHGRI) is recruiting a postdoctoral fellow interested in the study of the intersection of genomics, social determinants of health and health inequities.