Search Results
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 …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
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 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 …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
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, …
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… appeared February 5, 2016, in The Journal of Molecular Diagnostics . "Finding a distinctive methylation-based …
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 …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
News Release
A two-day international gathering on genomic medicine from more than 25 countries recommended ways to improve the use of genomics in medicine.
… Gert Matthijs, Ph.D., head of the Laboratory for Molecular Diagnostics at the Center for Human Genetics at the …