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In Memoriam: Victor McKusick, 1921-2008



Skeptical colleagues of Victor McKusick thought he was foolish to abandon a promising career in cardiology in the mid-1950s to pursue the study of genetics, which some considered little better than the medical equivalent of stamp collecting—and possibly not even a science. “But it didn’t bother me,” McKusick told The Sun earlier this year. “I felt certain it was going somewhere.”

Where genetics led, thanks to McKusick’s relentless inquiries and meticulous cataloguing, was to a whole new discipline that many scientists and clinicians believe is destined to be the driving force behind medical breakthroughs in the 21st century.

The University Professor of Medical Genetics at the Johns Hopkins University School of Medicine, one of the two distinguished Johns Hopkins geneticists for whom the McKusick-Nathans Institute of Genetic Medicine was named, and a towering international figure in genetics research, diagnosis and treatment, died on July 22 at home. He was 86. The energetic clinician-scholar—a pioneer in the pursuit of the links between inheritance and disease—died of complications due to cancer.

An early proponent of completely mapping the human genome, in 1966 McKusick created the first edition of his now classic reference Mendelian Inheritance in Man, an ever-enlarging compilation of inherited disease genes. Now in its 12th edition in print, the seminal reference also exists as OMIM, Online Mendelian Inheritance in Man, a continuously updated version on the Internet, providing a searchable database of disease genes’ locations and characteristics.

McKusick led the world in searching for, mapping and identifying genes responsible for thousands of inherited conditions, including Duchenne muscular dystrophy, achondroplasia and many other forms of dwarfism. He showed that understanding the genetics behind so-called Mendelian or single-gene diseases could lead to new methods of classifying disease and to their diagnosis and treatment. His pioneering work in Marfan syndrome set the foundation for others at Hopkins and elsewhere, who have identified not only the molecular players in those genes, but also now successful treatments.

Showered with scores of national and international prizes, honorary doctorates and accolades during a professional career spanning more than 60 years spent entirely at Johns Hopkins, he was the recipient of the 1997 Albert Lasker Award for Special Achievement in Medical Science, the 2001 National Medal of Science, and the 2008 Japan Prize in Medical Genomics and Genetics. He was the founding president of the Human Genome Organization and a member of the National Academy of Sciences.

Reflecting on McKusick’s work, Harry (Hal) Dietz III, the Victor A. McKusick Professor of Genetics and Medicine and director of the William S. Smilow Center for Marfan Syndrome Research, said, “McKusick created a legacy to medicine … so pervasive, even fundamental, that it will be difficult to pinpoint but impossible to avoid.”

For a more detailed account of McKusick’s career, see     

— Neil A.Grauer, Audrey Huang and Joann Rodgers



Johns Hopkins Medicine

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