Victor McKusick, 86, Dies; Medical Genetics Pioneer
July 24, 2008
Dr. Victor A. McKusick, a cardiologist who went on to become a founder of medical genetics and helped make the discipline a central part of medicine, died on Tuesday at his home in Baltimore. He was 86.
The cause was complications of cancer, said officials of the Johns Hopkins University School of Medicine, where Dr. McKusick had worked for more than 60 years, including a period as physician in chief.
Dr. McKusick was also an early proponent of completely mapping the human genome, 34 years before the feat was achieved in 2003. He influenced the training of the vast majority of medical geneticists through his textbooks, which cataloged thousands of genetic disorders.
Victor Almon McKusick was born on a dairy farm in Parkman, Me., on Oct. 21, 1921. His parents were teachers. He attended grammar school in a one-room schoolhouse, and he had the same teacher for seven of the eight years.
As a child, he had planned to become a minister. Then, at 15, he developed a spreading streptococcal infection of his arm and had to spend 10 weeks in a hospital while receiving a sulfa drug, one of the first antibiotics. That experience led him to medicine.
After attending Tufts University from 1940 to 1943, he entered the Johns Hopkins medical school without receiving his bachelor’s degree.
He had intended to return to Maine to go into general practice. But he won a prestigious fellowship, and while training as a cardiologist he became fascinated by patients with unusual inherited disorders.
In 1957, Dr. McKusick established a medical genetics clinic, the same year that Dr. Arno G. Motulsky started a similar clinic at the University of Washington. They are believed to be the first medical genetics clinics in this country. It was only four years after the discovery of the structure of the DNA molecule by James Watson and Francis Crick, and one year after scientists had established that the correct number of human chromosomes was 46, a finding that helped genetics begin to flourish.
Dr. McKusick, a spry man known for his jolly sense of humor, said in an interview that in 1957 some of his colleagues “thought I was committing professional suicide in leaving cardiology to focus on rare and unimportant genetic disorders.”
Today, there are more than 100 accredited clinical genetics units in North America, with thousands of trainees.
In studying genetic disorders, Dr. McKusick kept meticulous records of the inheritance patterns and clinical features of many syndromes.
As a cardiologist in the early 1950s, Dr. McKusick became fascinated with Marfan’s syndrome, an inherited disorder in which affected patients show an array of signs, including long arms and legs and dislocated eye lenses. They often died of a rupture of the aorta, the body’s main artery.
Dr. McKusick theorized, correctly, that all of these seemingly unrelated findings were because of the action of a single abnormal gene that disturbs the formation of connective tissue.
He also studied the medical histories of members of the Old Order Amish of Pennsylvania to identify genes responsible for their inherited disorders.
Dwarfism, which was unusually common in the Amish population, was the first one that he studied in detail. He then went on to discover previously unrecognized inherited disorders.
As an avid historian of a field he helped define, Dr. McKusick told students that if they wanted to get on top of a topic, they needed to learn its course of development.
Also in the 1950s, Dr. McKusick was intrigued by genetic maps of the fruit fly and began to think seriously about a genetic map for humans. In studying links between inheritance and disease, Dr. McKusick began mapping genes on human chromosomes. And in a lecture on a landmark study in genetics at a meeting at the Hague in 1969, he made a bold proposal: he said that the time was ripe to map all the human genes as a way of understanding the basic derangements in birth defects.
“In part, the proposal reflected the exuberant mind-set that followed the first moon landing,” Dr. McKusick wrote in an autobiographical paper.
But the audience’s reaction was flat, Dr. Joseph Goldstein said in presenting him with an Albert Lasker Award in 1997 for special achievement in medicine. Dr. McKusick was the founding president of HUGO, the Human Genome Organization, a coordinating group for international genome mapping and sequencing programs, and a member of the National Academy of Sciences. He received the Gairdner award in Canada in 1977; the National Medal of Science, the United States’ highest scientific honor, in 2001; and the Japan Prize in Medical Genetics and Genomics this year.
He is survived by his wife, Anne, a rheumatologist at Johns Hopkins; two sons, Kenneth A. of Ruxton, Md., and the Rev. Victor W. of Herkimer, N.Y.; a daughter, Carol Anne of Urbana, Ill.; and his identical twin, Vincent, a retired chief justice of the Supreme Court of Maine.