Dr. Victor A. McKusick, a Johns Hopkins professor widely considered the father of medical genetics, has been awarded the prestigious Japan Prize in Medical Genetics and Genomics and the $470,000 that goes with it.
McKusick, one of the leading figures at the medical school, was recognized for more than a half-century of work deciphering and cataloging inherited disorders, and for laying the foundation for what became the Human Genome Project.
"I'm terribly excited about it. It's not small potatoes, obviously, as we would say in Maine," said McKusick, 86, who grew up on a dairy farm there with his identical twin, Vincent, and his parents, who were both educators.
In 1966, McKusick published the first edition of Mendelian Inheritance in Man, a compendium of inherited disorders that had 1,500 entries in that printing. The book went through 12 editions, the last published in 1998, before going online. It has 20,000 entries and is continually updated.
Paralleling and in some ways driving the growth of the genetics research field, the catalog at first contained only inherited disorders but eventually covered normal traits such as eye color, along with the thousands of genes whose functions have become known as a result of the genome project.
"Today, researchers and clinicians around the world are sharing the fruits of Dr. McKusick's labors, which have become indispensable to the world of medical genetics," the Science and Technology Foundation of Japan wrote in a statement announcing the prize yesterday.
McKusick will receive his award Wednesday at the National Theater in Tokyo. Two other American scientists, Vinton Gray Cerf and Robert Elliot Kahn, will share the Japan Prize for Information Communication Theory and Technology.
Cerf, vice president and Chief Internet Evangelist of Google Inc., and Kahn, chairman and chief executive officer of the Corporation for National Research Initiatives, are recognized for their contributions to the creation of the Internet.
McKusick attended Tufts University in Massachusetts before entering the Johns Hopkins University School of Medicine in 1943 without finishing his undergraduate degree. He also completed a residency in internal medicine at Hopkins and began his medical career as a cardiologist.
He developed an early interest in the sounds of the heart. That triggered a curiosity about genetics when he went on to describe the problems associated with Marfan syndrome, an inherited disorder of the connective tissue. People born with the disease have a weak aorta prone to rupture, along with tall stature and vision problems.
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."
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.