Papers of Victor McKusick Added to the National Library of Medicine's Profiles in Science Web Site

Victor A. McKusick, MD The National Library of Medicine announces the release of an extensive selection from the papers of physician Victor A. McKusick (1921-2008), who received the 1997 Lasker Special Achievement Award for his lifelong work in medical genetics, on the Library's Profiles in Science® Web site. The Victor McKusick project is a collaboration with the Alan Mason Chesney Medical Archives of The Johns Hopkins Medical Institutions, the repository of his papers. With this addition, the number of prominent researchers, public health officials, and promoters of medical research whose personal and professional records are presented on Profiles has grown to twenty-eight. The site is available at

"Dr. McKusick was the driving force that moved genetics into mainstream academic and clinical medicine; he established training and research programs, fostered gene mapping projects, and created the monumental reference resource, Mendelian Inheritance in Man. He truly was the founding father of medical genetics" said Donald A. B. Lindberg, M.D., director of the National Library of Medicine.

Born and raised in rural Maine, McKusick became interested in medicine during a long hospitalization at the age of 15. He attended Tufts University, but left several credits short of graduation to enter The Johns Hopkins School of Medicine under a special accelerated wartime training program. He received his MD in 1946, and remained at Johns Hopkins for the rest of his career.

McKusick took his first step into medical genetics in 1947 during his internship, when a teenager with intestinal polyps and curious pigmented spots on his lips became his patient. Several years later, he and Dr. Harold Jeghers of Boston published a paper identifying this case and similar ones as an inherited syndrome, probably caused by a single mutant gene. Unable to train as a medical geneticist-the specialty didn't exist at the time--McKusick went on to train as a cardiologist. For many years he performed innovative studies of heart sounds and murmurs using sound spectrography, and wrote a comprehensive treatise on cardiovascular sound. He remained intrigued with the genetic aspects of disease, however, and carried out a comprehensive study of Marfan syndrome (a genetic disease that often includes heart defects) and four similar disorders, collecting patients and family histories from his own practice and from many other clinical departments at Johns Hopkins. This work produced his first book, Heritable Disorders of Connective Tissue, first published in 1956.

In 1957, McKusick established a medical genetics clinic and training program at Johns Hopkins, where he and his colleagues continued to search for, map, and identify genes responsible for thousands of inherited diseases. McKusick's work showed that understanding the genetics of such diseases could generate new ways to classify, diagnose, and treat them. The Johns Hopkins program alumni went on to establish new medical genetics departments worldwide. In 1960, McKusick organized the first Bar Harbor short course in medical genetics; held annually, the two-week course has since trained over 4,000 clinicians and educators.

Beginning in the late 1950s, McKusick and his colleagues collected inherited disease cases from the medical literature, the Johns Hopkins clinics, and field studies with the Amish and other groups. In 1966, McKusick published the first edition of his classic reference work Mendelian Inheritance in Man, a continually updated, annotated catalog of inherited disease genes (now available as the Online Mendelian Inheritance in Man (OMIM) through the National Library of Medicine.)

In 1969, McKusick was one of the first to propose mapping the entire human genome, and from 1973 to 1991 he helped organize a series of international Human Gene Mapping Workshops. Advances in gene mapping and in molecular biology made large sequencing projects practical by 1986, and McKusick played a leading role on the National Research Council committee charged with assessing the feasibility of what became the Human Genome Project. In 1988, he became founding president of the Human Genome Organization (HUGO), an international coordinating agency for the global mapping and sequencing efforts, and later served on the ethics committees for the Human Genome Project and HUGO.

Profiles in Science features correspondence, published articles, notebook excerpts, report drafts, and photographs from the Victor McKusick Papers at the Alan Mason Chesney Medical Archives of The Johns Hopkins Medical Institutions. Visitors to the site can view, for example, excerpts from McKusick's medical school notebooks, reports and correspondence relating to the establishment of HUGO, correspondence relating to the early years of the Bar Harbor course, and letters between McKusick and Walter Bodmer, Renato Dulbecco, James Watson, Nancy Wexler, and others involved in gene mapping and the Human Genome Project.

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Last reviewed: 18 February 2009
Last updated: 18 February 2009
First published: 18 February 2009
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