McKusick surprised colleagues in the late 1950s when he switched to genetics.
"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 recalled.
"But it didn't bother me. I felt certain it was going somewhere."
FOR THE RECORD - An article in yesterday's Maryland section misstated the date on which Dr. Victor A. McKusick, a geneticist at the Johns Hopkins School of Medicine, will formally receive the Japan Prize in Medical Genetics. The ceremony will take place April 23 in Tokyo.
THE SUN REGRETS THE ERROR
In the early 1960s, McKusick began studying genetic disorders among the Amish, including a form of dwarfism that is now called McKusick Type Metaphyseal Chondrodysplasia.
Also bearing his name is McKusick-Kaufman syndrome, a developmental disorder that includes congenital heart disease, a buildup of fluid in the female reproductive tract and extra fingers and toes.
McKusick's methods of analyzing genetic disorders of the Amish became a model for studying inherited conditions in isolated communities elsewhere. Many peers credit him with introducing the concept of genetics into the practice of medicine.
"Victor is a true pioneer who not only appreciated before many of his colleagues the extent to which our genetic inheritance determines sickness and health, but acted on that ... developing human genetics as a scientific discipline," said Kenneth Paigen, staff scientist and former director of the Jackson Laboratory in Maine.
David Valle, director of the McKusick-Nathans Institute of Genetic Medicine at Hopkins, said McKusick "showed the power of understanding the genetic contribution to both health and disease."
McKusick's six decades at Hopkins are the longest, uninterrupted service by a faculty member since the medical school opened in 1893. He was chief of medicine from 1973 to 1985. In 1997, he received the Albert Lasker Award for Achievement in Medical Science, sometimes referred to as the "American Nobel."
Previous winners of the Japan Prize include Dr. Donald A. Henderson, former dean of Hopkins' Bloomberg School of Public Health, who was recognized in 1988 for leading the worldwide campaign that eradicated smallpox.
Dr. Robert Gallo, director of the University of Maryland's Institute of Human Virology, won in 1988 for co-discovering the AIDS virus.
McKusick formally retired in December but spends about two-thirds of his time in the Hopkins office, where he and his staff maintain the genetics database. He carries the title of emeritus distinguished university professor of medical genetics.
jonathan.bor@baltsun.com
