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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
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… Resources for Hereditary Hemochromatosis Information Genetics Home Reference: Hemochromatosis Hemochromatosis.org …
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 … with inborn errors of metabolism. … Like the Medical Genetics Residency Program, this program is unparalleled in … that might not be seen in a more typical biochemical genetics program and it is one of the few programs that …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… 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 … Merideth, M.D., M.P.H. (Clinical and Medical Biochemical Genetics) and Robert Hufnagel. M.D., Ph.D. (Laboratory …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… 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 … M.D. , atlas co-creator and chief of NHGRI's Medical Genetics Branch . "Early diagnoses means early treatment …
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.
… 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 … may consider seeing a prenatal genetic counselor or other genetics professional to discuss the results of their DTC-GT, …
Event
On December 7, 2022, NHGRI will host a webinar to discuss key findings from the Human Genetics and Genomics Workforce Survey Report.
… 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 … will host a webinar to discuss key findings from the Human Genetics and Genomics Workforce Survey Report. … On December …
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.
… 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 …
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.
… to help users better understand the basics of genomics and genetics. While reformatted and expanded a few times over the … of remote-learning resources to help make genomics and genetics more accessible and understandable to a wide array … and Functional Genomics Branch and head of the Microbial Genetics Section, was recently elected to the National …
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.
… degree program has been educating students in human genetics, genetic counseling, public policy, research …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… guidelines developed by the American College of Medical Genetics and Genomics (ACMG). ClinGen has collected … website . … NHGRI and the American Society for Human Genetics (ASHG) are committed to training professionals who … Towards that end, the two organizations sponsor 16-month Genetics & Education  and Genetics & Public Policy …