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Dr. Victor A. McKusick - 1995

Dr. Victor A. McKusick - 1995

Dr. Victor A. McKusick is University Professor of Medical Genetics at The Johns Hopkins University and Physician at The Johns Hopkins Hospital in Baltimore, Maryland. He received his M.D. degree from The Johns Hopkins University School of Medicine in 1946, where he has been a member of the faculty continuously since 1947. Previously, he served as Director of the Division of Medical Genetics, The William Osler Professor and Director of the Department of Medicine, and Physician-in-Chief at The Johns Hopkins Hospital.

Dr. McKusick is widely credited with placing genetics in the mainstream of clinical medicine. Among his most noteworthy contributions to the field of medical genetics--the study and management of inherited diseases and predispositions--is his concept of Mendelian disorders in connective tissues. His special interest in mapping gene locations on chromosomes and relating those gene locations to human disease was spurred when, as a young cardiologist, he had a number of patients with Marfan syndrome, an inherited disorder in which the aorta becomes dialated and sufficiently weakened to allow an aneurysm to develop. In Heritable Disorders of Connective Tissues, first published in 1956 (5th edition 1993), he brought together for the first time scattered information about this broad class of disorders.

Dr. McKusick's contributions to the field of cardiology are incorporated in his monograph Cardiovascular Sound in Health and Disease (1958). By adapting the sound spectography method of the Bell Telephone Laboratory, which he called spectral phonocardiography, he discovered that he was able to describe heart sounds and murmers in more detail than had previously (or since) been possible.

Dr. McKusick's work in inbred communities, especially the Old Order Amish, as sources for the detection of rare recessive disorders, contributed significantly to the delineation and classification of genetic disease. This aspect of his work was incorporated in what has become known as "McKusick's Catalog," the encyclopedic Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes, first published in 1956 and containing over 3,600 entries (10th edition 1992).

Dr. McKusick is a founder and first president (1988-1990) of the Human Genome Organization [HUGO], which was established to encourage and coordinate international cooperation in the effort to map and sequence the human genome. The capabilities that arise out of that project will be a resource for studies of gene structure and function and will promote research into the genetic aspects of human disease. Mapping the human genome will increase our ability to predict, understand, and eventually prevent or cure human disease.

Dr. McKusick is a member of several scientific, professional and learned societies. Among these are the American Society of Clinical Investigation, the American Association for the Advancement of Science, the Association of American Physicians, the American Clinical and Climatological Association, the American Society of Human Genetics, and the National Academy of Sciences. He is also a Fellow of the American College of Physicians, the American Academy of Arts and Sciences, and the Royal College of Physicians of London. He is the recipient of several honorary degrees and his other awards include the Gairdner International Award for contributions to the development of the field of clinical genetics, the William A. Allan Award of the American Society of Human Genetics, the James Luck Award of the National Academy of Sciences, the San Remo International Prize for Genetic Research Medal of the Comune di Genova, the Silver Medal of the University of Helsinki, and the Silver Columbus. The author or co-author of some fifteen classic reference works in medical genetics, he is also the editor-in-chief of Medicine and co-editor-in-chief of Genomics, as well as an associate editor of several other publications.

Dr. Victor A. McKusick died Tuesday, July 29, 2008 at his home in Baltimore. He was 86. Read The New York Times obituary.

Mendel Medal Presentation Program, January 28, 1995. Villanova University, Villanova, Pennsylvania.