Victor A. McKusick, University Professor of Medical Genetics at Johns Hopkins, is widely considered the founding father of the field. He founded the first medical genetics clinic at Hopkins in 1957, and in the 1960s, launched Mendelian Inheritance in Man, an annually updated catalog of human phenotypes, now published online. His studies of hereditary disorders in the Amish became a model for other studies in genetically isolated population groups. He remained a spokesman of the field throughout his career, contributed his own analyses of its historical development, and was an early advocate for the mapping of the human genome. Dr. McKusick died in July, 2008.
Victor McKusick was born in 1921 in Parkman, Maine. He attended Tufts University in Boston and in 1946 received his M.D. from Johns Hopkins University. He remained at Johns Hopkins for his entire career, becoming an Assistant in Medicine in 1947, in the cardiology unit, rising through promotion to Professor of Medicine in 1960, becoming Professor of Epidemiology in the School of Hygiene and Public Health in 1969, Chairman of the Department of Medicine 1973-85, and University Professor of Medical Genetics in 1985, the title he holds today. In 1957, he was appointed Physician-in-charge of the Joseph Earle Moore Clinic at Hopkins, and established the country's first Division of Medical Genetics within the Moore Clinic. In addition to this pioneering achievement, Dr. McKusick is probably best known for his pedigree studies of Amish communities and for creating Mendelian Inheritance in Man (MIM), the listing of known human genetic disease markers, originally produced as a mimeographed sheet in 1958, developing into a published catalog based on computerized data in 1966, and appearing in successively more detailed editions before taking its current digital form as OMIM in 1987. Dr. McKusick was the founding editor of Genomics (with Frank Ruddle), the founder-president of the Human Genome Organization, a Member of the NAS Committee on Mapping and Sequencing the Human Genome 1986-88, and Chair of the NAS Committee on DNA Technology in Forensic Science 1990-92. He received the Lasker Award in 1997 and the National Medal of Science in 2002. Dr. McKusick died in July, 2008.