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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment … - The Gene Doctors Videos American Society of Human Genetics - Rare Disease Diagnosis Through Sequencing & Bioinformatics Hands-On Activity NIH - Genetics Home Reference Resources for Healthcare Providers …
EDUCATION
The Talking Glossary features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute.
… Loading... … Talking Glossary of Genomic and Genetic Terms … The Talking Glossary features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Hutchinson, who first described the disease in 1886, and Dr. Hastings Gilford who did the same in 1904. As … treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed … NIH Fact Sheet: Progeria Medline Plus: Progeria Genetics Home Reference: Hutchinson-Gilford progeria syndrome …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… The Medical Biochemical Genetics Fellowship Program is a one-year fellowship program … trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism. … Like the Medical Genetics Residency Program, this program is unparalleled in …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… new efforts for all of NIH to support equity, diversity, and inclusion in science, with the ultimate goal to end … field of genomics. …  Postgraduate training in medical genetics has been a cornerstone of clinical training at the … training programs spanning various aspects of medical genetics and genomics. These programs offer trainees a …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… (NHGRI), part of the National Institutes of Health, and their collaborators, have successfully used facial … March 23, 2017, in the American Journal of Medical Genetics , is to help healthcare providers better recognize … M.D., M.P.H., a medical geneticist in NHGRI's Medical Genetics Branch . "Even experienced clinicians have …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… information (generally ancestry, some health traits and health risks) from a saliva sample. Ordering and return … insurance to cover the cost of testing. MedlinePlus Genetics gives an overview of DTC-GT for patients. 1   … are encouraged to consider genetic counseling or other genetics professionals if DTC-GT results show they are a …
Event
On December 7, 2022, NHGRI will host a webinar to discuss key findings from the Human Genetics and Genomics Workforce Survey Report.
… the majority identify as U.S. citizens (73.3%) and their race, ethnicity or ancestry as white (67%). The top … to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report . The panelists … … Virtual … New report examines diversity in the human genetics and genomics workforce … On December 7, 2022, 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.
… animal model of Down syndrome to the standard model and found the updated version to be more similar to the … in mice. “A mouse model that more precisely captures the genetics of Down syndrome has important implications for … in humans. A mouse model that more precisely captures the genetics of Down syndrome has important implications for …