Ada Hamosh

Ada Hamosh MD, MPH, the Dr. Frank V. Sutland Professor of Genetic Medicine at the Johns Hopkins University School of Medicine and the Scientific Director of Online Mendelian Genetics in Man (OMIM®) since 2002. A clinical and biochemical geneticist, Dr. Hamosh has authored over 140 papers and serves on several international committees representing genotype-phenotype relationships as well as phenotype ontologies, including, the ClinGen Project, the Monarch Disease Ontology, the Global Alliance for Genomic Health (GA4GH), and the Human Genome Organization (HUGO). She served as President of HUGO from 2023-2025. She is the Co-Director of the National Organization for Rare Disorders (NORD) Johns Hopkins-Kennedy Krieger Rare Disease Center of Excellence and the GA4GH Rare Disease Community of Interest.

She and colleagues developed PhenoDB (http://phenodb.org), a web-based tool for the collection, storage, and analysis of standardized phenotype and genotype data and GeneMatcher (http://genematcher.org), a website to enable matches of clinicians and researchers with an interest in the same gene. GeneMatcher includes over 19,100 submitters from 115 countries and >100,000 cases. Matches through GeneMatcher have resulted in >1000 publications describing >820 novel disease genes.