Victor A. McKusick, M.D., is widely regarded as the father of medical genetics for pursuing the link between gene inheritance and disease. Currently University Professor of Medical Genetics and a namesake of the McKusick-Nathans Institute of Genetic Medicine at The Johns Hopkins University School of Medicine, McKusick led the world in searching for, identifying and mapping genes responsible for inherited conditions such as Marfan syndrome and dwarfism. An early proponent of completely mapping the human genome, in 1966 McKusick created the first edition of the reference Mendelian Inheritance in Man, an ever-enlarging compilation of inherited disease genes.

Born Oct. 21, 1921, in Parkman, Maine, McKusick and his identical twin, Vincent, grew up on a dairy farm in Maine. Both of McKusick's parents had been teachers and made education a priority for their five children. McKusick attended Tufts University from 1940 to 1943, when he entered The Johns Hopkins University School of Medicine without completing his bachelor's degree. McKusick has spent his entire career at Johns Hopkins, completing his internship and residency in internal medicine and training in cardiology at Johns Hopkins after receiving his M.D. from the medical school in 1946.

Originally interested in studying heart defects, McKusick served as Executive Chief of the cardiovascular unit at Baltimore Marine Hospital from 1948 to 1950, while progressing through the ranks in the Johns Hopkins Department of Medicine, attaining full professor status in 1960. He also holds joint professorships in Epidemiology in The Johns Hopkins University School of Public Health and in Biology at The Johns Hopkins University. In 1957, McKusick founded the Division of Medical Genetics, which he headed until 1973, when he became Osler Professor and Chairman of the Department of Medicine and Physician-in-Chief of The Johns Hopkins Hospital. He held these posts until 1985, when he was named University Professor of Medical Genetics.

McKusick's original interest in cardiology led him to medical genetics through Marfan syndrome, a disease characterized by heart defects, unusually tall height, and several other abnormalities. He began studying the inheritance patterns of Marfan and other familial diseases, eventually helping to identify the chromosomes and genes responsible for many of them. He also initiated the study of populations with relatively small gene pools, such as the Old Order Amish of Pennsylvania, as a way to identify inherited disorders and the genes responsible for them more quickly. In 1960, McKusick founded the highly regarded Short Course in Medical and Experimental Mammalian Genetics, held in conjunction with The Jackson Laboratory in Bar Harbor, Maine, each year.

In February 2001, two independent research groups reported completing drafts of the human genome, the map McKusick proposed in 1969. Now in its 12th edition in print, and consisting of 3 volumes, the seminal reference Mendelian Inheritance in Man, which McKusick continues to edit, also exists as a repeatedly updated version on the Internet (http://www.ncbi.nlm.nih.gov/omim/), providing a searchable database of everything currently known about genes' involvement with disease.

Today, the importance of recognizing and understanding the links between various genes and disease almost goes without saying in many circles, including among non-scientists. Indeed, finding a gene, and frequently even linking it to a disease, no longer makes headlines, reflecting the widespread acceptance of McKusick's fundamental approach to studying disease.

---

In 1972 McKusick received the John Phillips Award of the American College of Physicians for distinguished contributions in Internal Medicine. The recipient of numerous honorary doctorates, McKusick has also received the Gaidner International Award (1977), the William A. Allan Award of the American Society of Human Genetics (1977), the James Murray Luck Award from the National Academy of Sciences (1982) and the Sanremo International Prize for Genetic Research (1983). He has been inducted into the International Pediatrics Hall of Fame (1987) and has received the Passano Award (1989), the George M. Kober Medal (American Association of Physicians, 1990) and in 1997 received the prestigious Albert Lasker Award for Special Achievement in Medical Science. More recently, McKusick was honored with the Ellen Browning Scripps Medal and the John P. McGovern Compleat Physician Award. McKusick has served in distinguished positions on numerous advisory boards and editorial boards and within professional organizations.

--JHMI--