Search Results
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… Dr. Carey, professor and vice chair of the Department of Pediatrics at the University of Utah. "Seeing it all come …
The Genomics Landscape
In the September 1, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., focuses on the NHGRI History of Genomics Program's preservation of historical assets related to the field of genomics as it celebrates its 10th anniversary.
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… is built for cancer genomics. Dr. Plon, professor of pediatrics/hematology-oncology and molecular and human …
Research Training
A mentored, pre-tenure track junior faculty position during which time the incumbent designs and implements an integrated, translational research program.
… a primary care residency (e.g., internal medicine, pediatrics, etc.) We encourage applications from all …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
Event
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) held its ninth in-person meeting on February 25, 2020, in Bethesda, Maryland.
… Blain National Eye Institute Jeff Botkin Professor of Pediatrics and an Adjunct Professor of Human Genetics …
MINC
Assessing your own work environment is a starting point for deciding who will be involved, what is needed, and establishing a plan of action.
News Release
Experts discussed the gaps, challenges and opportunities in genomics at Genomic Medicine Meeting VIII: NHGRI's Genomic Medicine Portfolio, sponsored by NHGRI.
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.