Search Results
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… substantially different prognostic outcomes. Therefore, diagnostics based on DNA methylation patterns may provide …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
News Release
The Telomere-to-Telomere (T2T) Consortium has generated the first truly complete sequence of a human Y chromosome - the final human chromosome to be fully sequenced.
… relevant genomic variants can help us design better diagnostics in the future.” In addition to the complete Y …
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.