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Neurology Today:
doi: 10.1097/01.NT.0000337655.37033.1e
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Medical Geneticist Victor A. McKusick Dies

STUMP, ELIZABETH

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Victor Almon McKusick, MD, renowned worldwide as the father of modern human medical genetics, died on July 22 due to complications from cancer. He was 86 years old.

Dr. McKusick, University Professor of Medical Genetics at Johns Hopkins University School of Medicine in Baltimore, MD, was awarded the Japan Prize in Medical Genomics and Genetics — considered the Nobel Prize of Japan — in April by the Science and Technology Foundation of Japan.

Dr. McKusick graduated from the Johns Hopkins University School of Medicine in 1946, joined the cardiology medical faculty the next year, and was the longest-serving faculty member in the school's history with over 60 years tenure. He served as director of the Division of Medical Genetics from 1957 to 1975 and physician-in-chief of the Johns Hopkins Hospital from 1973 to 1985, and remained active as a genetics professor until last year.

Thomas Bird, MD, professor of medicine, neurology, and medical genetics at the University of Washington in Seattle, WA, praised Dr. McKusick as a pioneer and giant in medical genetics, whose work has influenced all fields of medicine. “He was especially influential in emphasizing the role of genetics in every type of neurological disease, promoting the human genome project, cataloging thousands of genetic disorders, and training and educating a new generation of genetic-savvy physicians,” he said. “I was struck by a phrase he coined more than 30 years ago to describe the world that fascinated him: ‘The morbid anatomy of the human genome.’ He will be greatly missed.”

Dr. McKusick's interest in Marfan syndrome, a genetic connective tissue disease in which major arteries are weakened and heart problems may ensue, led to his research in genetics. He was a leader in mapping the location of genes on chromosomes and relating gene location to diseases, including Marfan syndrome and dwarfism.

Figure. DR. VICTOR A...
Figure. DR. VICTOR A...
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In 1957 Dr. McKusick established the first training program in medical genetics in the US at Johns Hopkins, devoted to the study and management of inherited diseases and predispositions. In the 1960s, he performed studies on the Old Order Amish — an inbred community that keeps diligent genealogical records — which enabled him to trace rare recessive disorders and classify previously unrecognized, genetic diseases.

These findings are incorporated into his most famous work, Mendelian Inheritance in Man, a vast compilation of human genes and genetic disorders (1966). The catalogue, now known as OMIM (Online Mendelian Inheritance in Man) and maintained online, contains descriptions of all known genes.

Dr. McKusick is known for his early recognition of the significance of mapping the entire human genome. He helped found and served as the first president (1988–1990) of the Human Genome Organization, an international group established to encourage mapping and sequencing the human genome.

©2008 American Academy of Neurology

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