Search Results
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 …
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
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 …
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 …
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 …
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 …