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
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.
Victor Almon McKusick Collection