Victor Almon McKusick was born in the little town of Parkman in central Maine, on October 21, 1921. He went to Tufts College in Boston from 1940 to 1943, and then received his medical degree from Johns Hopkins University in 1946. He has remained at Johns Hopkins ever since, rising from a medical student to physician-in-chief of the entire Johns Hopkins hospital and on the way creating the field of medical genetics and changing forever the way medicine is practiced. Due to his interest, energy, determination, and discoveries, McKusick is often called the Father of medical genetics.
McKusick was first interested in heart diseases, but he discovered that many of the patients he saw had family members who also had heart problems, piquing his interest in the possibility that genes might be causing these diseases. His interest in genetic disorders continued, and in 1957 he established the first Department of Medical Genetics in the country. He started studying many different diseases, including those related to heart defects, blood problems, and dwarfism. He helped found the American College of Medical Genetics and the American Board of Medical Genetics.
Soon after, McKusick realized that many physicians and scientists knew little about genetics and helped to start one of the first courses in genetics which quickly became known as the "short course in experimental mammalian genetics." This was a two-week course taught by McKusick and his colleagues from Johns Hopkins and the Jackson Laboratories, a research institute studying the genetics of mice. The course started in 1960 and was taught in Bar Harbor, near the Jackson Laboratories, in McKusick's home state of Maine. This course quickly became the most well-known and highly respected course in genetics, and brought in students, researchers, and doctors from all over the country. It remains the premier course of its kind today.
When McKusick started the field of medical genetics, there was no list of genetic diseases, nor any one place to go to find information about any of these disorders. He started keeping track of the diseases, and this led to the first edition of his book Mendelian Inheritance in Man, which was published in 1966. Even then, when computers were room-sized boxes kept behind closed doors, McKusick knew their value, and he maintained his list using one of these computers. In that first edition, McKu-sick listed 1,466 different genetic diseases. In the most current edition, over 12,000 diseases are listed. Mendelian Inheritance in Man is available on the Internet.
McKusick was one of the first to realize the potential of the Human Genome Project. In 1973 he helped to organize the first Human Gene Mapping Workshop, the predecessor of the Human Genome Project. He helped found the Human Genome Organization (HUGO) in 1988. He has won over twenty prestigious awards, including the Albert Lasker Medical Research Award in 1997, and he has received over twenty honorary degrees from colleges and universities around the world.
McKusick's accomplishments go well beyond all the papers he has written, all the books he has authored, and all the awards he has won. He has inspired two generations of medical geneticists with his dedication, rigorous scientific approach, warmth, and good humor.
see also Geneticist; Human Disease Genes, Identification of; Human Genome Project.
Jonathan L. Haines
McKusick, V. A., et al. "40 Years of the Annual Bar Harbor Course (1960-1999): APictorial History ." Clinical Genetics 55, no. 6 (1999): 398-415.
McKusick, V. A. "The Anatomy of the Human Genome: A Neo-Vesalian Basis for Medicine in the Twenty-first Century." Journal of the American Medical Association. 286 (2001): 2289-2295.
Online Mendelian Inheritance in Man. Johns Hopkins University, and National Center for Biotechnology Information. http://www.ncbi.nlm.nih.gov/entrez/Omim>.