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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program2
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 … normal. However, within a year, their growth rate slows and they soon are much shorter and weigh much less than … treatment of progeria, the discovery of the underlying genetics of this model of premature aging may help to shed …
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.
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… iron absorption. If correctly diagnosed, HH is easily and effectively treated, but if untreated, it can lead to … HH, the mechanism for regulating iron absorption is faulty and the body absorbs too much iron. Over time - several years … 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 … trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism. … Like … not be seen in a more typical biochemical genetics program and it is one of the few programs that emphasizes clinical …
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 … advance this goal. As we navigate our way through winter and the continuing pandemic, I would — as I have in previous … field of genomics. … Postgraduate training in medical genetics has been a cornerstone of clinical training at the …
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 … to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The disease, 22q11.2 deletion syndrome … March 23, 2017, in the American Journal of Medical Genetics , is to help healthcare providers better recognize …
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 of results for DTC-GT typically does not involve … insurance to cover the cost of testing. MedlinePlus Genetics gives an overview of DTC-GT for patients. 1 …
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 … employed respondents include genetic counseling, research and academia. Women made up the majority of respondents … to discuss the key findings from a recently released Human Genetics & Genomics Workforce Survey Report . The panelists …
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 … develop more precise treatments to improve learning and memory in people with Down syndrome. Scientists found … in mice. “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.
… As the heat rises and the summer arrives, you might be looking for some indoor … NHGRI workshop entitled “Future Directions in Genomics and Health Equity.” The goal of the workshop was to identify … to help users better understand the basics of genomics and genetics. While reformatted and expanded a few times over the …