Ada Hamosh MD, MPH, the Dr. Frank V. Sutland Professor of Pediatric Genetics, is the Clinical Director of the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine, and the Scientific Director of Online Mendelian Genetics in Man (OMIM®). 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 genetics fellowship at Johns Hopkins Hospital. Dr. Hamosh has authored over 130 papers ranging from genotype-phenotype correlations in cystic fibrosis, to natural history studies in NKH, to novel disease gene discoveries, and new treatments for rare Mendelian disorders. She serves on several international committees representing genome-phenome relationships as well as phenotype ontologies, 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 Centers for Mendelian Genomic 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 14,000 submitters from 99 countries and more than 65,000 cases. Matches through GeneMatcher have resulted in over 570 publications describing over 420 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.