Having trained in cardiology, he encountered families with Marfan syndrome and conceived that understanding the pleiotropic effects of a single gene affecting one element of connective tissue would reveal the basic defect. He became interested in the clinical and genetic aspects of the various heritable disorders of connective tissue and published his first book, Heritable Disorders of Connective Tissue, in 1956.
McKusick excelled in the clinical nosology of genetic disorders. Some viewed his research as medical stamp collecting and wondered if it was even science. But Victor perceived that the future of medicine—and insight into the molecular mechanisms that underlie disease—would be through medical genetics. He did not limit himself to descriptive studies. Collaborating with basic scientists, he helped define the biochemical and molecular defects in many disorders. He was especially effective in working across specialties and across basic science and clinical lines. His ultimate goal may have been reached in Marfan syndrome, with Hal Dietz, the first McKusick Professor at Johns Hopkins, finding a potential pharmacologic therapy for the aortic disease—clinical genetics at its best.
