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News Release
CCGO awards exome sequencing to NIH intramural investigators
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
Staff
Carolina Galarreta Aima, M.D.
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
For Health Professionals
ISCC-PEG Archives
Archives of ISCC-PEG webinars, articles, case studies and more.
… History. In collaboration with American Academy of Pediatrics and the American Academy of Otolaryngology-Head …
News Release
NHGRI researchers and collaborators identify Noonan syndrome in diverse people
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
Staff
Oleg A. Shchelochkov, M.D.
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… an associate investigator at NHGRI. After his early pediatrics training at the University of Iowa and genetics … was a tenure-track assistant professor within the Pediatrics Department and Division of Genetics at the …
The Genomics Landscape
NIH Undiagnosed Disease Program Celebrates 10th Anniversary
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
Funding for Research Training
Loan Repayment Program (LRP)
A program designed to recruit and retain highly qualified health professionals into biomedical or biobehavioral research careers.
News Release
Cancer drug reduces pain, improves symptoms in people with Proteus Syndrome
A repurposed cancer drug appears to reduce the severity of lesions and pain experienced by people with Proteus syndrome
News Release
Decades after rare disease diagnosis, family and physician hail genomic breakthrough
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
American Society of Human Genetics – A Vision for the Future
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.