Victor McKusick

Victor McKusick was an American physician and medical geneticist at Johns Hopkins widely credited as the founder of medical genetics as a clinical discipline. In 1966 he published Mendelian Inheritance in Man, the first comprehensive catalog of known human genes and the genetic disorders associated with them, which he continued to expand and update throughout his career; the catalog was later made available online in 1987 as Online Mendelian Inheritance in Man, and by the time of McKusick death it contained nearly nineteen thousand entries. McKusick carried out extensive genetic studies of the Old Order Amish population of Pennsylvania, whose relatively closed breeding population and detailed genealogical records let him identify and characterize rare inherited conditions including Ellis-van Creveld syndrome and cartilage-hair hypoplasia. He founded the Division of Medical Genetics at Johns Hopkins in 1957, served as its Physician-in-Chief and William Osler Professor of Medicine from 1973 to 1985, and became the founding president of the Human Genome Organization in 1989, helping steer the international effort to map the human genome. He received the Lasker Award in 1997 among numerous other honors for his role in establishing medical genetics.