Dr Victor A McKusick, a key architect of the Human Genome Project and a winner of the National Medal of Science, has died. He was 86.
Officials at Johns Hopkins University, where McKusick was a professor of genetics, said he died in Towson, Maryland, after complications from cancer.
McKusick, whose work explored the links between genetics and disease, won the top US scientific prize in 2001.
McKusick founded the Johns Hopkins Division of Medical Genetics in 1957 and in 1973 became chairman of its department of medicine and physician-in-chief of The Johns Hopkins Hospital.
He became professor of medical genetics in 1985 and remained active in that role until last year. He had trained as a cardiologist, but an encounter with a tall patient with a disorder called Marfan syndrome altered the course of his career. He studied medical genetics in the late 1950s, a few years after DNA was discovered.
"Some of my colleagues thought I was committing professional suicide because I had a reputation in cardiology and was shifting over to focus on rare, unimportant conditions, and so forth," McKusick said in an interview earlier this year.
In 1966, he published the first edition of Mendelian Inheritance of Man, with 1500 entries on inherited disorders. Now it has grown to more than 20,000 entries.
McKusick was one of the first to propose the human genome map in 1969 and helped establish the Human Genome Project. He also helped establish the journal Genomics.
Each summer he conducted a two-week course in genetics, which attracted more than 4000 students and doctors.
Two disorders carry his name - McKusick Type Metaphyseal Chondrodysplasia, a form of dwarfism found among the Amish; and McKusick-Kaufman syndrome, a disorder marked by congenital heart disease, build-up of fluid in the female reproductive tract and extra fingers and toes.
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