Full Name
Ada Hamosh
Job title
Johns Hopkins University School of Medicine
Speaker bio
Ada Hamosh MD, MPH, the Dr. Frank V. Sutland Professor of Pediatric Genetics, is the Clinical Director of the McKusick-Nathans Institute Department of Genetic Medicine at Johns Hopkins University School of Medicine, the Scientific Director of Online Mendelian Genetics in Man (OMIMĀ®), and the Co-Chair of the Phenotype Review Committee of Baylor-Hopkins Centers for Mendelian Genomics (CMG), a U.S. National Human Genome Research Institute-funded project to identify the genes responsible for known and novel Mendelian disorders. Dr. Hamosh received her BA in Biology from Wesleyan University, MD from Georgetown University, and MPH from Johns Hopkins School of Hygiene and Public Health. She completed a pediatrics residency and clinical and clinical biochemical fellowship at Johns Hopkins Hospital. Dr. Hamosh has authored over 100 papers and serves on several international committees representing genome-phenome relationships as well as phenotype ontologies, including IRDiRC (the International Rare Disease Research Consortium), the Human Variome Project, now called Global Variome, the ClinGen Project, GA4GH (Global Alliance for Genomic Health), and the Human Genome Organization (HUGO).

She and colleagues developed PhenoDB (http://phenodb.org), a web-based tool for the collection, storage, and analysis of standardized phenotype and genotype data for use in the CMG project that is freely available to all for clinical and research use, and GeneMatcher (http://genematcher.org), a website to enable matches of clinicians and researchers with an interest in the same gene. GeneMatcher includes over 8000 submitters from 88 countries and more than 35,000 cases. Matches through GeneMatcher have resulted in over 244 publications describing over180 novel disease genes. GeneMatcher is a founding member of the Matchmaker Exchange (MME). Dr. Hamosh serves on the Steering Committee of the MME and represents it on the Steering Committee of the GA4GH.