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 Tuesday in Towson, Maryland — after complications from cancer.
McKusick, whose work explored the links between genetics and disease, won the top U.S. scientific prize in 2001.
"Today we have lost a giant," said Johns Hopkins Medicine dean and chief executive officer Edward D. Miller. "He spent virtually all of his incredible career at Hopkins, but his influence and legacy reach around the world."
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. Officials said he became professor of medical genetics in 1985 and remained active in that role until last year.
As a young man, McKusick planned to enter the ministry, but changed his mind after suffering from a severe Streptococcus infection in his armpit in 1937. He first attended Johns Hopkins as a medical student in 1943.
McKusick trained as a cardiologist, but an encounter with a tall patient with an inherited disorder called Marfan syndrome altered the course of his career.
He devoted his career to 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 for the most part on rare, unimportant conditions, and so forth," McKusick said in an interview earlier this year with The (Baltimore) Sun.
In 1966, McKusick published the first edition of Mendelian Inheritance of Man, with 1,500 entries on inherited disorders. Now the publication 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. The sequence was completed in 2001. He also helped establish the journal Genomics.
McKusick and his colleagues taught a two-week course in genetics each summer in Bar Harbor, Maine. It became the most respected course in the subject, attracting in more than 4,000 students, doctors and researchers.
Two disorders carry his name: 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.
