Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Video
Divisions
Programs
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… in FDA Regulatory Oversight of NGS-Based In Vitro Diagnostics Used for Diagnosing Germline Diseases … The FTC’s …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… diseases Drew Michael, Ph.D. Molecular and biochemical diagnostics Debra Regier, M.D., Ph.D. Metabolic disorders, … Clinical Director, NHGRI Erin Strovel, Ph.D. Biochemical diagnostics Cynthia J. Tifft, M.D., Ph.D. Glycosphingolipid …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… while promoting the use of genomic approaches for clinical diagnostics and engaging basic researchers to identify the …
Fact Sheets
Genomics is the study of all of a person's genes (the genome), including interactions of those genes with each other and with the person's environment.
… already enabling medical researchers to develop improved diagnostics, more effective therapeutic strategies, …