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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
Event
On February 23, 2023, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Next Generation of Black Leaders in Genetic Science."
… Historically Speaking: Next Generation of Black Leaders in Genetic Science ," a panel of African American biomedical … Historically Speaking: Next Generation of Black Leaders in Genetic Science … On February 23, 2023, NHGRI and the … Speaking: Next Generation of Black Leaders in Genetic Science." … On February 23, 2023, NHGRI and the …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging genomic technology … Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… NIH study finds that failing to account for mixed genetic lineages could lead to inaccuracies. … Researchers … accounting for population structure. By considering mixed genetic lineages, researchers at the National Human Genome … treated as a genetically homogenous group in large-scale genetic studies, have clear evidence of mixed genetic …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… … Factor V Leiden is the name of a specific mutation (genetic alteration) that results in thrombophilia, or an … making decisions about OCP or HRT use should take these statistics into consideration when weighing the risks and … a screening test called a coagulation screening test or by genetic testing (DNA analysis) of the F5 gene. … The …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… groups on helping families prepare for a child with a genetic condition Craig et al. J Community Genet . 2023 Apr …  In the past 10 years, the ability to screen for genetic conditions during pregnancy has improved …
Event
NHGRI hosted a webinar to provide an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for Applications (RFA-HG-20-048 and RFA-HG-20-049).
… an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for … … Online … Webinar for Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for … an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… The JHU/NIH Genetic Counseling Training Program trains students to … social, behavior and policy research in the field of genetic counseling and provides clinical rotations for students to learn directly about genetic conditions, their impact on individuals and their …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… FMO3 gene. Trimethylaminuria may be caused by a variety of genetic changes to the FMO3 gene. Not all of the functions of … experience, researchers think that different genetic mutations in FMO3 can influence the symptoms of the … (OMIM) [omim.org] An electronic catalog of human genes and genetic disorders, developed by the National Center for …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… new molecules involved in diabetes. … In a new large-scale genetic analysis, scientists have found a set of small RNA … author of the study. … About NHGRI and NIH … Large-scale genetic analysis shows microRNAs in human pancreas associated with diabetes … In a new large-scale genetic analysis, National Institutes of Health (NIH) …
Careers and Training
Frequently Asked Questions about the Genetic Counseling Training Program.
… August 21, 2024 Update: The NIH-funded Genetic Counseling Training Program is temporarily pausing … you on the current needs and challenges associated with genetic counseling while we plan to launch a new effort to … . The following questions about the JHU/NIH Genetic Counseling Training Program (GCTP) below cover …