Victor McKusick, who founded the field of medical genetics at Johns Hopkins University, died on Tuesday, July 22, at his home outside Baltimore. He was 86 years old.
"Victor's vision is reflected in his early recognition of the inherent value to medicine of mapping the human genome," said Aravinda Chakravarti, director of the McKusick-Nathans Institute in a 2002
statement. "His contributions to the practice of genetics in medicine are thus seminal, phenomenal and ageless."
McKusick was working as a cardiologist at Johns in the 1950s, when he encountered a patient with a serious defect in his aorta. He noticed that the man had other symptoms, such as being unusually tall compared to his family and having a dislocated eye lens, both tell-tale signs of Marfan syndrome. As he started treating other Marfan patients, he began tracking the patterns of inheritance of the disease.
He founded the Division of Medical Genetics, a clinic and research center at Johns Hopkins in 1957 to further his studies of Marfan's Syndrome and other genetic conditions. "Some of my colleagues thought I was committing professional suicide," by leaving cardiology to work rare diseases, McKusick told the
Baltimore Sun earlier this year. McKusik headed the division of medical genetics until 1973, when he was named the Osler Professor and Chairman of the Department of Medicine and Physician-in-Chief of The Johns Hopkins Hospital. In 1985, he became the University Professor of Medical Genetics. He retired from the university in December, 2007 -- he was Hopkins' longest-tenured faculty member, according to the
LA Times.
He was a staunch proponent of sequencing the human genome and testified before Congress for continued funding of the Human Genome Project, according to the
Washington Post. His 480 publications were cited over 21,000 times according to ISI Web of Science. He won the 1997 Lasker Award for Special Achievement in Medical Science, the 2002 National Medal of Science and the Japan prize for Medical Genomics and Genetics this year.