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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… are less able to survive cellular stress. … mitochondria, genetic condition, immune system, sequencing, children, …
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… children with the disease. These participants completed a genetic literacy survey, watched an educational video about … genome editing, study participants demonstrated higher genetic literacy levels than estimated. The NHGRI study … a clinical trial. “Designing clinical trials for curative genetic therapies requires addressing the patient communities …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… the clinical relevance or validity of genes in various genetic disorders for their use in precision medicine and … know their family history and have undergone genetic testing. The term “QT” refers to the segment of an … was described in 1957, researchers have engaged in a genetic race to identify the genes associated with long QT …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… M.D., Ph.D., senior investigator and chief of NHGRI's Genetic Disease Research Branch. "If we knock it out in mice, … factor, Pamela Schwartzberg, vaccine development, genetic disease … TCF1 (for T cell factor-1) is essential for …
The Genomics Landscape
In the January 2025 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Erin Ramos as the new director of the Division of Genome Sciences (DGSci).
… We just updated our Talking Glossary of Genomic and Genetic Terms with several new entries, including genetic architecture , long-read DNA sequencing , and … . All the best, … Mapping the relative accuracy of cross-ancestry prediction Lupi, et al. Nat. Comm. , Dec 2024, …
The Genomics Landscape
In April 6, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how NHGRI will hold a symposium on National DNA Day, April 25, highlighting relevant and interesting topics in genomics and concluding with the annual Louise M. Slaughter National DNA Day Lecture.
… researchers sampled over 300 dogs to characterize their genetic ancestry and found large, complex families of dogs living in … provided the most fundamental knowledge about the human genetic blueprint and produced a framework of knowledge for …
The Genomics Landscape
In the August 2023 edition of The Genomics Landscape, NHGRI Director Eric Green introduces incoming NHGRI DEO Director, Jennifer Troyer.
… the best, … Polygenic scoring accuracy varies across the genetic ancestry continuum Ding et al. Nature . 2023 … that, she worked as a senior scientist at NCI developing genetic and genomic technologies. Dr. Troyer completed a …
News Release
Charles Rotimi, Ph.D., was awarded the Academy Medal for Distinguished Contributions in Biomedical Science by the New York Academy of Medicine. This honor, established in 1929, recognizes investigators with sustained and impactful accomplishments in biomedical research and an interest in translating these findings to advance human health.
… Medicine honors NHGRI Scientific Director for advances in genetic epidemiology and efforts to enhance the diversity of … with a focus on the African Americans and Africans. As a genetic epidemiologist and genomics researcher, Dr. Rotimi … data from admixed groups and individuals of African ancestry has enhanced approaches to finding genomic variants …
The Genomics Landscape
In the February 2, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about the new NIH Data Management and Sharing (DMS) Policy and how it emphasizes the importance of good data management practices.
… 2022. PMC9793425 One method for studying the ancestry of a human population involves the use of DNA from … Since NHGRI launched the Talking Glossary of Genomic and Genetic Terms in 1998, the resource has received over 18 … New approach successfully traces genomic variants back to genetic disorders Notable accomplishments in genomic medicine …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… tandem repeats. These types of repeats have been linked to genetic predispositions for certain cancers, and being able … contributes to disease and inform the development of new genetic testing methods. This research was funded by the … collaborations facilitated by NHGRI. … Genomics Research Genetic carriers for sickle cell disease have higher risks of …