Search Results
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
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 …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
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.
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… the training of medical genomicists for rare disease diagnostics using next-generation sequencing analysis. The … around the world and to further advance rare disease diagnostics and new disease discovery. …
News Release
Micro-sized technologies are among the approaches researchers will use to develop high quality, low cost DNA sequencing technology.
… current flowing through the graphene. Caerus Molecular Diagnostics, Inc., Mountain View, California $701,000 over …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
News Release
NIH lost a key member of its broader genomics team when Robert Blakesley, Ph.D., director of the NISC sequencing group at NIH, retired on Dec. 31, 2015.
… develop an automated DNA sequencing machine for medical diagnostics. "That hooked me. At the time, Fred Sanger and …
Event
A 10-part seminar series in 2021 that focuses on the “Bold Predictions for Human Genomics by 2030” that are described in NHGRI’s “Strategic Vision for Improving Human Health at the Forefront of Genomics.”