Victor McKusick has died at the age of 86. He was “the father of medical genetics”.

“Today we have lost a legend,” said Edward Miller, dean of the Johns Hopkins medical faculty (LA Times). “His influence and legacy reach around the world.”

McKusick compiled one of the most comprehensive public catalogues of genes, labouring on it for over 40 years. He was a key player in the Human Genome Project (Washington Post). The Post also has an excellent Appreciation piece on him.

When he published the first collection of inherited disorders in 1966 it included 1,500 entries, says the Baltimore Sun. Mendelian Inheritance in Man is currently on its twelfth edition and in its online form contains over 20,000.

AP notes that his name lives on in the most fitting way for a great doctor, with two disorders named for him: “McKusick Type Metaphyseal Chondrodysplasia, a form of dwarfism found among the Amish; and McKusick-Kaufman syndrome, a developmental disorder marked by congenital heart disease, buildup of fluid in the female reproductive tract and extra fingers and toes”.

Image: Victor McKusick receives the Medal of Science from President Bush / National Science Foundation