Search Results
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… of Skin Microbes in Healthy People and in People With Skin Conditions Gaucher's Disease Genetic Studies of Lysosomal …
News Release
NIH and Inova Health are launching The Genomic Ascertainment Cohort, a pilot project that will examine gene and gene variant influence on phenotypes.
… is established, NIH and Inova researchers will predict conditions that specific genes or gene variants might produce … gene variant influence, gene variants and disease conditions, gene variants and traits, Leslie Biesecker M.D. … …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… precision health, Josh Denny, ClinGen, congenital heart conditions, Centers of Excellence in Genomic Science (CEGS), …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
Educational Resources
Homozygous is a genetic condition where an individual inherits the same alleles for a particular gene from both parents.
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… vertebrate embryology, inborn errors of metabolism, and neurogenetic disorders. … Projects performed at the …
Research Funding
The following are research areas of interest that have been identified by the participating NIH institutes and centers (ICs). Program Officer contact information is also included.
… and findings that can be applied across many diseases and conditions. Projects focused on a single disease or disorder … the ethical, legal, and social implications of: aspects of neurogenetic research with human participants, such as … misconception, including for rare genetic diseases; neurogenetic research with human nervous system tissue; …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… of two cases lost to follow-up as keys to solving these conditions. (Clinical Genetics and Dysmorphology) 2571W. Joan …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… genotype-first approach uncovers new links to genetic conditions. … National Institutes of Health researchers have … uncovered new relationships between genes and clinical conditions, broadened the traits and symptoms associated with … and first author of the paper. Typically, to treat genetic conditions, researchers first identify patients who are …