Victor A. McKusick
1995 Mendel Medal Recipient



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.

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





McKusick, Victor Almon, geneticist, educator, physician; b. Parkman, Maine, Oct. 21, 1921; s. Carroll L. and Ethel M. (Buzzell) McK.; m. Anne Bishop, June 11, 1949; children: Carol Anne, Kenneth Andrew, Victor Wayne. Student, Tufts Coll., 1940-43; MD, Johns Hopkins U., 1946; DSc (hon.), N.Y. Med. Coll., 1974; MD (hon.) Liverpool U., 1976; DSc (hon.), U. Maine. 1978, Tufts U., 1978, U. Rochester, 1979, Meml. U., Nfld., 1979; DMCh (hon.), U. Helsinki, 1981; D Med. Sci. (hon.), Med. U. S.C., 1979; MD (hon.), Edinburgh U., 1984; DSc (hon.), Aberdeen U., 1988, Med. Coll. Ohio, 1988, Bates Coll., 1989; PhD (hon.), Tel Aviv U., 1989; MD (hon.), Zurich (Switzerland) U., 1990; DSc (hon.), Colby Coll., 1991, U. Chgo., 1991, Mt. Sinai Sch. Medicine, 1992. Diplomate Am. Bd. Internal Medicine. Tng. in clin. medicine, lab. rsch. Johns Hopkins U./USPHS, 1946-52; instr. medicine Johns Hopkins Sch. Medicine, 1951-54, asst. prof., 1954-57, assoc. prof., 1957-60, chief divsn. med. genetics, dept. medicine, 1957-73, prof. medicine, 1960-85, prof. epidemiology, biology, 1969-78, William Osler prof. medicine, 1978 - 85, chmn. dept. medicine, 1973-85; physician-in-chief Johns Hopkins Hosp., 1973-85, Univ. prof. medical genetics, 1985--, chief div. med. genetics, 1957-73, 85-89; mem. rsch. adv. com. Nat. Found., 1959-78, med. adv. bd. Howard Hughes Med. Inst., 1967-83, com. mapping and sequencing of human genome Nat. Acad. Sci., 1986-88; pres. Internat. Med. Congress, Ltd., 1972-78; mem. Nat. Adv. Rsch. Resources Coun., 1970-74; mem. bd. sci. advisers Roche Inst. Molecular Biology, 1967-71; trustee Jackson Lab., 1979--; founding mem. Am. Bd. Med. Genetics, 1979-82; pres. 8th Internat. Congress of Human Genetics, 1991; mem. human genome adv. com. NIH, 1988-92, NIH/DOE work group on ethical, legal and societal implications of human genome project, 1990-95; co-chmn. Centennial of Johns Hopkins Hosp., 1989-90; co-founder, co-dir. ann. short course in med. and exptl. mammalian genetics, Bar Harbor, Maine, 1960--; co-founder, co-dir. European Sch. Med. Genetics Sestri Levante, 1988--; chmn. com. on DNA tech. in forensic sci. NRC/NAS, 1989-92, adv. update com., 1993-96; mem. sci. adv. bd. Celera Genomics, 1998--; founding fellow Am. Coll. Med. Genetics. Author: Heritable Disorders of Connective Tissue, 1956, 60, 66, 72, 93, Cardiovascular Sound in Health and Disease, 1958, Medical Genetics 1958-60, 1961, Human Genetics, 1964, 69, On the X Chromosome of Man, 1964, Mendelian Inheritance in Man, 1966, 68, 71, 75, 78, 83, 86, 88, 90, 92, 94, 98, Medical Genetics Self-Instruction Guide, 1993, (with others) Osler's Textbook Revisited, 1967, Genetics of Hand Malformations, 1978, Medical Genetic Studies of the Amish, 1978, A Model of its Kind, 1989, Osler's Legacy, 1990, A Century of Biomedical Science at Johns Hopkins, 1993; author, editor: Online Mendelian Inheritance in Man, 1985--; editor-in-chief Medicine jour., 1985--; founding co-editor-in-chief Genomics jour. 1987--; editor med. textbook. Recipient Disting. Achievement award Modern Medicine, 1965, John Phillips award ACP, 1972, Silver medal U. Helsinki, 1974, Gairdner Internat. award, 1977, Premio Internazionale Sanremo per le Ricerche Genetiche, 1983, Col. Saunders award March of Dimes, 1988, Disting. Alumnus award Johns Hopkins U., 1983, Alumnus Svc. award Johns Hopkins Med. Sch., 1989, Passano award, 1989, Disting. Svc. award Miami Biotech,, Winter Sympossium, 1991, Frank Bradway Rogers Info. Advancement award Med. Libr. Assn., 1991, Silver Columbus medal Comune di Genova, 1992, Maine prize (with twin), 1993, Mendel medal Villanova U., 1995, Big "M" award Maine State Soc. Washington, D.C., 1995, Coriell medal Coriell Inst., Camden, NJ, 1997, Lasker award for lifetime achievement in med. sci., 1997, City of Medicine award, Durham, NC, 1997; named to Internat. Pediatrics Hall of Fame, 1987, hon. citizen City of Genoa, 1997. Fellow AAAS (chair med. scis. sect. 1991), Am. Acad. Orthopedic Surgeons (hon.), Royal Coll. Physicians (London), Hastings Ctr., Am. Coll. Med. Genetics (hon.); mem. Nat. Acad. Sci. (James Murray Luck award 1982), Am. Philos, Soc. (v.p. 1996--), Benjamin Franklin medal for disting. achievement in scis. 1996), Am. Soc. Human Genetics (pres. 1975, Wm. A. Allan award 1977), Assn. Am. Physicians (Kober medal 1990), Am. Soc. Clin. Investigation (v.p. 1967), Human Genome Orgn. (founder pres. 1988-89), Am. Acad. Arts and Sci., Little People of Am. (hon. life), Acad. Nat. Medicine (France; corr.), Phi Beta Kappa, Alpha Omega Alpha, Johns Hopkins Club, West Hamilton St. Club, St. Andrew's Soc. Balt. Presbyterian (elder). Home: 221 Northway Baltimore MD 21218-1141 Office: Johns Hopkins Hosp Inst Genetic Medicine-Blalock 1007 600 N Wolfe St Baltimore MD 21287-0005

Who's Who in America, 2002, 56th edition. New Providence, New Jersey. Marquis Who's Who, 2001, p. 3527.

Web Links:
Victor Almon McKusick Collection
http://www.med.jhu.edu/medarchives/sgml/mckusick.html