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Monday, February 27, 2012

My Ode to Victor McKusick

A friend of mine recently got me talking about Marfans disease. It brought up my memories of my distant relative, Victor McKusick. I was the editor of our McKusick Clan publication and wrote an article about Victor at the time of his death. This is that article:

Johns Hopkins Associate Victor McKusick Wins Prestigious Japan Prize

Victor A. McKusick, M.D., University Professor of Medical Genetics at the Johns Hopkins University School of Medicine, was the 2008 recipient of the prestigious Japan Prise in Medical Genetics and Genomics, the Science and Technology Foundation of Japan announced today in Tokyo.

The sole laureate in his category that year, McKusick, widely renowned and lauded as the Father of Genetic Medicine, received a medal and fifty million yen ($470,000) at a formal presentation April 23rd in Tokyo, attended by the Japanese Emperor and national dignitaries.

Funded principally by the Matsushita Electric Industrial Co. Ltd., the Japan Prize, then in its 24th year, is awarded to living individuals worldwide whose original and outstanding achievements in science and technology are recognized as having advanced the frontiers of knowledge and served the cause of peace and prosperity for mankind, according to the foundation's description.

"I am deeply appreciative and grateful for this wonderful honor. In my view, it also honors the contributions and support of Johns Hopkins, and of my colleagues and students over many decades," said McKusick, for whom the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins was named in 1999.

"Johns Hopkins has been the proud beneficiary of Victor McKusick's pioneering talents and devotion to the advancement of science and human health for sixty-plus years. He is indeed a Hopkins legend, and it is an honor for all of us to have known him as a clinician, scientist, teacher, and colleague," noted Edward D. Miller, M.D., dean and CEO of Johns Hopkins Medicine.

David Valle, M.D., Henry J. Knott, Professor and Director of the McKusick-Nathans Institute of Genetic Medicine hailed the award as an outstanding, much-welcomed and highly deserved recognition of McKusick's seminal contributions to medical genetics.

Americans Vinton Cerf and Robert Kahn, generally credited with pioneering the Internet, shared the prize in the Information Communication Theory and Technology category. Interestingly, the transfer of McKusick's signature scientific work, Mendelian Inheritance in Man, to the Internet, made McKusick one of the earlier users of that communication technology. Two fields of science are designated each year for the prize, which is celebrated during Japan Prize Week with lectures, academic seminars, and galas in the island nation.

A native of Parkman, Maine, Victor Almon McKusick, at his death 86, grew up with his identical twin, Vincent, on a dairy farm. His parents, both former teachers, are credited with instilling education as a priority in all five of their children. Victor attended Tufts University in Massachusetts for three years before entering the Johns Hopkins University School of Medicine in 1943 without finishing his bachelors degree.

He spent his entire career at Johns Hopkins, completing internship and residency in internal medicine and training as a cardiologist with an interest in study of heart sounds and murmurs (later published as a classic text, Cardiovascular Sound in Health and Disease) and also heart defects.

Victor was led to the then-budding field of genetics when he became the first to describe the cluster of characteristics of Marfan syndrome (Abraham Lincoln is thought to have suffered from Marfan syndrome, a study in which McKusick participated) , an inherited connective tissue disease marked by unusually tall height, heat defects, and other abnormalities. His studies of inherited disorders in the Amish uncovered previously unrecognized, inherited conditions and served as a model for studies in similarly isolated populations elsewhere.

He also worked on the causes and inherent problems of dwarfism and was once named an honorary dwarf.

Studying these patients and those affected by other familial disorders triggered McKusick's determination to identify and catalog genes and chromosomes that result in multiple physical conditions. Peers around the world credit him with almost single-handedly introducing the incorporation of genetics into the practice of medicine.

In 1966, he first published his master compendium of disorders and genetic factors in disease, formerly titled Mendelian Inheritance in Man: Catalogs of Autosomal Recessive, and X-linked Phenotypes. Now known as OMIM (Online Mendelian Inheritance in Man) or simply the Catalog, it is continually updated online at http://www.ncbi.nlm.nih.gov/omim/ and is considered a bible for medical geneticists around the globe.

A key architect of the Human Genome Project and winner of the 2001 National Medal of Science, the United States' highest scientific prize, McKusick was also the recipient of the 1997 Albert Lasker Award for Achievement in Medical Science and numerous awards and honorary degrees. Victor was the founding president of The Human Genome Organization or HUGO, an international coordinating body for the human genome initiative.

McKusick was the co-founder of a course in experimental and human genetics held at the Jackson Laboratory in Bar Harbor, Maine, in its forty ninth year in 2008, and widely credited with training generations of genetic medicine practitioners and scholars. In 2004, more than 450 donors, include Nobel Laureates, contributed funds to establish the Victor A. McKusick Professorship in Medical Genetics at Johns Hopkins.

McKusick's six decades at Johns Hopkins constituted the longest uninterrupted service of any faculty member since the school opened in 1893. He served as the William Osler Professor of Medicine, chairman of the Department of Medicine, and from 1973 to 1985, physician-in-chief at the Johns Hopkins Hospital.

Among those who accompanied McKusick to Tokyo were his wife, Anne McKusick, M.D., their two sons, his twin brother, Vincent, and David Valle.

Previous winners of the Japan Prize with Johns Hopkins connections were immunologist Kimishiga Ishizaka, a faculty member in the Department of Medicine from 1970 to 1989, who won the prize in 2000; and D.A. Henderson, former dean of the Johns Hopkins Bloomberg School of Public Health, who won the prize in 1988.

Victor died of cancer on July 22, 2008.

Further information on the Japan Prize can be found at http://www.japanprize.jp/prize/prize_e1.htm  . Further information on the McKusick-Nathans Institute of Genetic Medicine can be found at  http://www.hopkinsmedicine.org/geneticmedicine/  .

News media contact: Joann Rodgers at jrodgers@jhmi.edu and Audry Huang at audrey@jhmi.edu

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