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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."
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… it is recommended that you work with a medical or genetics professional to contact the laboratories for further … in the United States. Children's Hospital Colorado Biochemical Genetics Lab Phone: 720-777-6711 Contact: Lab Client Services …
Media Advisory
On December 7, 2022, the National Human Genome Research Institute will host a webinar to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report.
… This past month, the American Society of Human Genetics (ASHG) released the Human Genetics and Genomics Workforce Survey Report, which lays a … to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report. The panelists …
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.
… disparities often stem from systemic discrimination, not genetics, these false results are a way that inequitable …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… Prenatal Genetic Diagnostic Tests Australia's Centre for Genetics Education - Overview of Prenatal Testing CBS News: … NLM - Genetic Testing Registry American Society of Human Genetics - Prenatal Cell-Free DNA Screening Infographics … Clinicians - A Guide to Genomic Test Results for Non-Genetics Providers American Society of Human Genetics - …
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.
… ancestry should be re-evaluated. “By reading population genetics papers, we realized that the pattern of genetic … catalogs of human genomic variation. By reading population genetics papers, we realized that the pattern of genetic …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… developing abnormal blood clots. Information courtesy of: Genetics Home Reference … 12. Additional Resources for Factor V Leiden Thrombophilia Genetics Home Reference: Factor V Leiden Thrombophilia Genetics Home Reference: F5 gene The American Heart …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.