ADA HAMOSH
Dr. Frank V. Sutland Professor of Pediatric Genetics at McKusick-Nathans Department of Genetic Medicine (DGM)
Professor at Johns Hopkins Bloomberg School of Public Health
Clinical Director, OMIM
After completing medical school at Georgetown University, and residency in Pediatrics, an MPH from the Bloomberg School of Public Health, followed by fellowship in clinical and biochemical genetics at Johns Hopkins Hospital, Ada Hamosh, MD, MPH, joined the faculty of the McKusick-Nathans Department of Genetic Medicine (DGM)of the Johns Hopkins University in 1992.
She became the Dr. Frank V. Sutland Chair of Pediatric Genetics there in 2007. Her lifelong interest is in genotype-phenotype correlations and the molecular basis of mendelian disorders, beginning with cystic fibrosis, but expanding to becoming Scientific Director of Online Mendelian Inheritance in Man (OMIM®) since 2002. She is clinical director of the IGM, and has brought a primary care model to genetics practice.
In addition, over the past several years, she has developed PhenoDB, a web-based tool for the collection, storage and analysis of phenotypic information, as well as variant filtering and analysis developed for the NHGRI funded Centers for Mendelian Genomics, but with broad applicability to any clinical or research lab pursuing whole exome/genome sequencing technologies.
Her dream is to integrate standardized family history, phenotyping and genomic data to enable point of care support to diagnose and manage genetic disease. In addition, she and colleagues have developed GeneMatcher, a tool to connect clinicians, researchers, and patients/families with an interest in the same gene. Because of use from submitters from 100 countries, GeneMatcher has become the premier tool to enable novel disease gene identification.
