Search Results
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Mitochondrial diseases, metabolic disorders and cardio-genetic diseases Carlos Ferreira, M.D. Skeletal dysplasias, … Melissa Merideth, M.D., MPH Gynecologic aspects of genetic and metabolic diseases Drew Michael, Ph.D. Molecular … Program, Training Programs, Physicians, Metabolic Genetic Disorders, Rare Genetic Disorders, Newborn Screening …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… this analogy often applies when trying to identify genomic variants associated with phenotypes in large-scale sequence … that scientists will find both rare and common genomic variants that contribute to health and disease.  Enabling … included a new name: the Talking Glossary of Genomic and Genetic Terms . First launched in 1998, the talking glossary …
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 … Facial recognition software helps diagnose rare genetic disease …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… scanning markers across the genomes of many people to find genetic variations associated with a particular disease. … complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. Once new genetic associations are identified, researchers can use the …
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 … is a lack of evidence about the relationship between gene variants and diseases. A special issue of Human Mutation , …  A healthcare provider consults with a patient about her genetic test results. Image Credit: Darryl Leja, NHGRI …
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, … Researchers study enhanced genetic animal model of Down syndrome …
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, … genetically complex diseases that are caused by many variants. The GSP will also develop methods, tools, and …
News Release
The Genetic Counseling Training Program, a collaborative program between the National Institutes of Health and Johns Hopkins University, will be undergoing program planning and development that will reshape training of genetic counselors across the career spectrum.
… The NIH-funded Genetic Counseling Training Program , a master’s degree … NIH to conduct strategic planning and reshape training of genetic counselors across the career spectrum. Currently … program will finish in December 2026. “The NIH-funded Genetic Counseling Training Program has been wildly …
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. …
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 … Speaking: Next Generation of Black Leaders in Genetic Science." …