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News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … Content … Facial recognition software helps diagnose rare genetic disease … NHGRI researchers have successfully used …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… of Health are establishing which genes and genomic variants play a role in human disease, enabling their use in …  A healthcare provider consults with a patient about her genetic test results. Image Credit: Darryl Leja, NHGRI … epilepsy and RASopathies; the latter is a group of rare genetic conditions that include Noonan syndrome, …
Event
On December 7, 2022, NHGRI will host a webinar to discuss key findings from the Human Genetics and Genomics Workforce Survey Report.
… primary areas of work for employed respondents include genetic counseling, research and academia. Women made up the …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model … NHGRI senior historian. “As cognitive treatments based on genetic models become more feasible in the future, …  … About NHGRI and NIH … Researchers study enhanced genetic animal model of Down syndrome … NIH researchers …
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… to use genome sequencing to identify genes and genomic variants underlying human inherited disease across its full … spectrum, including rare diseases likely to be due to rare variants with strong effects (Mendelian), and common, … (Professor in Cell and Molecular Biology, Center for Genetic Medicine and Surgery) Northwestern University Andy …
News Release
Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.
… new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically … a menu of techniques to detect potentially harmful gene variants. Researchers found, on average, 6.6 faulty genes in … then investigated which of these potentially bad gene variants contributed to the patients' undiagnosed diseases. …
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 … differences between individuals’ genomes, known as genomic variants , and polygenic risk scores are tools for assessing …
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 …
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.
… Carrier Screening … 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. … Genetic Testing, Genetic Disorder, Alleles, Inheritance, …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… DNA sequencing now allows us to test for specific genomic variants in an unborn baby using a small sample of a pregnant … can be a stressful time, and for many years prenatal genetic testing has required invasive procedures with … the field. Less than a decade ago, women seeking prenatal genetic testing, such as for a condition like Down syndrome, …