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®) since 2002. 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 fellowships at Johns Hopkins Hospital. Dr. Hamosh has authored over 140 papers and serves on several international committees representing genome-phenome relationships as well as phenotype ontologies, including,the ClinGen Project, the Global Alliance for Genomic Health (GA4GH), and the Human Genome Organization (HUGO). She is serving a two-year term as President of HUGO since Spring 2023.

She and colleagues developed PhenoDB (http://phenodb.org), a web-based tool for the collection, storage, and analysis of standardized phenotype and genotype data 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 16,800 submitters from 114 countries and >96,000 cases. Matches through GeneMatcher have resulted in >930 publications describing >700 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 Global Alliance for Genomics and Health (GA4GH).