Dr. Victor A. McKusick, the Johns Hopkins University physician who is widely regarded as the father of medical genetics, died Tuesday at his home in Baltimore. He was 86 and died of complications from cancer.
McKusick was a pioneer in linking diseases to specific genes and began the first database of gene functions, a repository that now includes more than 18,000 human genes.
The two-week course in genetics taught by McKusick and his colleagues every summer in Bar Harbor, Maine, became the best-known and most respected course in the subject, bringing in more than 4,000 students, doctors and researchers from all over the country and introducing them to an entirely new way of addressing illnesses.
"Today we have lost a legend," said Dr. Edward D. Miller, dean of the Johns Hopkins medical faculty and chief executive of Johns Hopkins Medicine. "His influence and legacy reach around the world."
McKusick trained as a cardiologist and initially specialized in heart murmurs and other distinctive sounds. Using acoustic spectography technology developed by the Bell Telephone Laboratory, he was able to describe these sounds in more detail than had ever been possible.
His career path changed, however, when he encountered a patient who was much taller than the rest of his family and suffering from a dangerous weakening of the aorta and a detached retina.
McKusick recognized the symptoms as Marfan syndrome, a disorder of the connective tissue, and began studying the condition. By 1956, he had brought together all of the available information about it, creating the first definitive description of the disorder and leading him to wonder about its cause.
Studying families with the disorder who flocked to his office, he was eventually able to isolate the gene responsible for the disorder, identifying it in a 1991 paper as FBN-1. That discovery led to some potential new treatments for the disorder that are now being studied in clinical trials.
Intrigued by his early work with Marfan, and against the advice of many of his colleagues, McKusick turned to genetics full time, establishing one of the nation's first departments of medical genetics at Johns Hopkins in 1957.
Early on, he recognized that inbred communities such as the Old Order Amish would be the best place to search for genes that cause recessive diseases -- those in which the defective gene must be inherited from both parents for the disease to manifest itself.
