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 …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… - 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 … Disease Network (UDN) American College of Medical Genetics and Genomics : Find Genetic Service Providers NLM …
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.
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.
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, …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… completing a combined residency in pediatrics and medical genetics at Mount Sinai Medical Center, he was awarded a fellowship in biochemical genetics from the American College of Medical … is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics. In 2010, Dr. McGuire moved to the …
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 …
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 …