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- Developmental Genotype-Tissue Expression (dGTEx)1
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News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… family.  However, when one of Emily’s relatives underwent genetic testing for an unrelated condition, they were told … the signs and symptoms. In Canada where Emily lives, genetic testing to diagnose such a condition is not part of … consist of reference genomes from people of European ancestry . This current lack of ancestral diversity may …
The Genomics Landscape
In the June 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D. details the upcoming appointment of acting NHGRI Deputy Director, Vence Bonham Jr., J.D. and what it means for the institute.
… our current natural history study on patients with a rare genetic disease, familial platelet disorder. Our goals – … themes over the five days will include direct-to-consumer genetic testing, pharmacogenomics, cancer genomics, and rare … explored how the increased genetic diversity in African ancestry populations affects strategies for disease gene …
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… therapies involving genomic modifications for dozens of genetic diseases. Speakers: Timothy Yu, M.D., Ph.D., Boston … examines the complexities of the genome — the complete genetic or hereditary material of a living organism — and … (OMHHE). This program trains postdoctoral fellows to use genetic, genomic, and pharmacogenomic approaches to advance …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… to find new therapeutic approaches for some of these genetic disorders, with the hope that these preclinical … in the lives of these patients. … The catalog of genetic skeletal disorders has more than 770 entries, each …
Profile
An interview with Meru Sadhu, an Earl Stadtman Investigator and head of the systems biology and genome engineering section within the NHGRI Intramural Research Program, where he talks about his research and why yeast have a special place in his heart.
… get such complex systems starting with the simple rules of genetic inheritance really appealed to me, and my fascination …
The Genomics Landscape
In the February 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Genome Statute and Legislation Database, which recently received a major revamp to help researchers, policy analysts, and the public more easily find state-level legislation related to genomics.
… to clinical management that incorporates patients' genetic information, medical health records, and individual … topics include employment and insurance discrimination, genetic data privacy, genetics and genomics research, and the … bodies. For instance, as federal regulation about genetic testing evolves, there has been a complementary …
The Genomics Landscape
In the October 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., introduces us to new scientific director Charles Rotimi, Ph.D., his background and prior accomplishments.
… of human disease on the African continent. As a leading genetic epidemiologist and genomics researcher with expertise …
Profile
Reflecting on his NIH career, Dr. Smith recounts his journey from researcher to program director in a conversation with NHGRI science writer Sonja Soo, Ph.D. He looks ahead to a retirement filled with traveling, spending time with friends and family, playing pickleball and brewing ale.
… about the prospects, fears, controversy and boundaries of genetic engineering. The subject of my term paper together … group developed new technologies and techniques for human genetic studies. We worked on developing methods for mapping …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… behavioral genomics.  All the best,   … Rare and common genetic determinants of metabolic individuality and their … these computational tools to recognize and classify rare genetic skin conditions . Oleg Shchelochkov, M.D. , recently … with mild and severe forms of propionic acidemia, a genetic condition that affects digestion of proteins and …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… more broadly. … Genomics Research Researchers optimize genetic tests for diverse populations to tackle health …