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- Developmental Genotype-Tissue Expression (dGTEx)1
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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 … leads The Democratizing Education for Sickle Cell Disease Gene Therapy Project , a collaborative effort that aims to …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… 30 years ago. … Researchers from the Genotype-Tissue Expression Project (GTEx) consortium, an NIH Common Fund … a set of studies describing how DNA variation can alter gene expression. The group of papers, published in Science … most comprehensive catalog of genomic variants that affect gene expression produced to date. The studies focus on …
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.
… 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 … nephrolithiasis due to biallelic mutations in CYP24A , the gene encoding the 24-hydroxylase that inactivates vitamin D. …
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 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, PMID: … proteins. One of the first steps of this process, called gene expression, involves copying DNA into RNA. While this is …
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 the edited mice, expression patterns of ACE2 were similar to those in humans …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… regulatory changes in cis and trans and the evolution of gene expression in humans and chimpanzees Barr et al. Genome Biol … how he came to discover the disorder and its associated gene by genome sequencing. A study participant with VEXAS …
The Genomics Landscape
In the February 3, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the December 2021 NHGRI symposium's success in confronting the difficult pasts of eugenics and scientific racism.
… @NHGRI_Director . All the best, … The Genotype-Tissue Expression (GTEx) project generated NHGRI’s most frequently … studying the relationship between genomic variation and gene expression. Because GTEx data can be shared for general … genomics research. … Genomics Research Silencing a faulty gene may uncover clues to rare forms of ALS For skin …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… disease. All the best, … Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant … with HCFP1. These variants regulate the activity of a gene called GATA2, a gene known to be important for brain stem development. These …