Search Results
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… 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 …
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 …
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.
… Pooling datasets from multiple studies enhances the statistical power of the resulting analyses, thereby … 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 …
Funding Opportunities
Funding Opportunities for Investigator-Initiated Research in Computational Genomics and Data Science
The Computational Genomics and Data Science Program Announcements (PARs) invite applications for investigator-initiated research efforts fostering innovation in computational genomics, data science, statistics, bioinformatics, and data visualization and exploration.
… INST CAN RESEARCH Evaluation and Development of Statistical Methods for Data Harmonization in Molecular … and Mouse HG012784 RAY, DEBASHREE JOHNS HOPKINS UNIVERSITY Statistical methods for identifying pleiotropy between … ANDREW D UNIVERSITY OF OREGON Deep learning for population genetics HG010774 ZACHAREWSKI, TIMOTHY R MICHIGAN STATE …
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 …