Ada Hamosh MD, MPH is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Department of Pediatrics and the McKusick-Nathans Institute of Genetic Medicine (IGM), Johns Hopkins University School of Medicine, and professor in the Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health. Since 2002, she has been Clinical Director of the IGM and Scientific Director of OMIM (Online Mendelian Inheritance in Man®), a catalog of human genes and genetic disorders created by Dr. Victor A. McKusick. This database is still authored and edited at Johns Hopkins and is available at https://omim.org. A premier clinical and molecular biological resource, OMIM attracts over 10,000 unique users per day.
Dr. Hamosh earned a BA degree from Wesleyan University, a medical degree from Georgetown University, and an MPH degree from the Johns Hopkins University. She did her training in Pediatrics and Clinical and Biochemical Genetics at Johns Hopkins Hospital. The molecular basis of Mendelian disorders and the genetic basis of variability within single gene disorders have been the core of her professional interests in both OMIM and research. Clinically, her interests are similarly broad, although she has particular expertise in the diagnosis and management of inborn errors of metabolism. Her educational interests focus on the integration of genetics into general clinical practice as well the education of geneticists.
Dr. Hamosh began her genetics career studying cystic fibrosis and served as the coordinator of the CF genotype-phenotype consortium. She has authored over 70 publications on a wide range of topics. Dr. Hamosh served as the chair of the Maryland State Advisory Council on Hereditary and Congenital Disorders from 2001-2009. She has is a founding member of the Human Variome Project and serves on its Phenotyping committee, as well as the International Consortium of Human Phenotype Terminologies (ICHPT). She serves on genome-phenome working group of the International Rare Disease Research Consortium (IRDiRC) and is an advisor to the ClinGen Project. In addition, she is a member of the GEUVADIS consortium. She is the Chair of the Phenotype Review Committee of the Baylor-Hopkins Center for Mendelian Genomics, as well as that of the community portal, serving all 3 Centers. In that capacity, she and colleagues have recently developed a research software tool for use in whole exome/genome projects, called PhenoDB, which is freely available for download at https://phenodb.net.
In addition to her work, Ada is devoted to her husband, Hal Dietz, MD, the Victor A. McKusick Professor of Medical Genetics and her daughter, Nina Dietz.
