Victor McKusick; Genetics Pioneer

Victor A. McKusick catalogued genes.
Victor A. McKusick catalogued genes. (Must: John Hopkins School Of Medicine - Must: John Hopkins School Of Medicine)
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By Patricia Sullivan
Washington Post Staff Writer
Thursday, July 24, 2008; Page B06

Victor A. McKusick, 86, a Johns Hopkins University physician-scientist considered the founding father of medical genetics, died July 22 of cancer at his home in Towson, Md.

Dr. McKusick spent more than four decades compiling one of the world's most comprehensive public catalogues of genes. He was among the very first, in 1969, to urge the scientific establishment to map the human genome.

His " Mendelian Inheritance in Man," begun in 1966 and now in its 12th edition in print with a searchable and continually updated online database, has become an essential reference for medical geneticists and researchers.

"Sometimes I feel like Sir James Murray must have felt while he was grubbing away at writing the Oxford English Dictionary," Dr. McKusick once said. "He managed to complete the first 17 letters before he died."

His role in demonstrating the genetic basis of diseases and disorders has resulted in multiple medical breakthroughs.

He established the Division of Medical Genetics at Johns Hopkins, a first-of-its-kind clinic and research center, in 1957. Researchers soon identified the location on the X chromosome of a handful of genes, including those for hemophilia and colorblindness.

By 1959, other researchers discovered the extra chromosome in Down syndrome, which strongly connected a chromosome to its effect on an individual's medical condition. In 1968, Dr. McKusick's team mapped the gene for a blood group on chromosome 1, the first gene pinned to a non-sex chromosome.

Nowadays, finding a gene and linking it to a disease no longer makes headlines, reflecting the widespread acceptance of Dr. McKusick's fundamental approach.

"I like to say that the arrangement of genes on chromosomes is part of the microanatomy," Dr. McKusick told the Johns Hopkins Magazine in 2000. "Just as the gross anatomy in the Middle Ages was important to medicine, every [medical] specialty now uses mapping genes for diseases."

He was showered with international awards, including the 1997 Albert Lasker Award, the 2001 National Medal of Science and the 2008 Japan Prize in Medical Genomics and Genetics. His study of the genetics of dwarfism earned the 6-foot-2 scientist honorary membership in Little People of America, a support group for dwarfs and midgets.

Dr. McKusick co-founded a highly regarded course in genetics at the Jackson Laboratory in Bar Harbor, Maine, that since 1960 has trained more than 4,000 aspiring geneticists.

Victor Almon McKusick and his identical twin, Vincent, were born Oct. 21, 1921, in Parkman, Maine, and grew up on a dairy farm.

At 15, Victor McKusick developed strep infections in his left armpit and right elbow and spent 10 weeks in Massachusetts General Hospital, where he was cured by antibiotics. From then on, he knew he wanted to be a doctor. His twin became chief justice of Maine's Supreme Judicial Court.

Dr. McKusick attended Tufts University, leaving without a degree to enroll early in the Johns Hopkins University School of Medicine, where he spent the rest of his career. In 1949, he married fellow doctor Anne Bishop, an assistant professor in the Johns Hopkins division of rheumatology.

Initially drawn to cardiology, he soon turned to the study of a relatively rare inherited disorder, Marfan syndrome. His fascination started with one unusually tall patient, with a dangerous weakening of the aorta and a detached retina. Dr. McKusick made his first breakthrough by discovering that the complex group of Marfan symptoms all stemmed from a single inherited gene.

Other patients with Marfan syndrome sought him out, and Dr. McKusick began keeping meticulous records of the inheritance patterns of the syndrome and other diseases that ran in families.

"Some of my colleagues thought I was committing professional suicide because I had a reputation in cardiology and was shifting over to focus for the most part on rare, unimportant conditions and so forth," Dr. McKusick told the Baltimore Sun. "But it didn't bother me. I felt certain it was going somewhere."

He began looking at other groups of people with relatively limited gene pools, such as the Old Order Amish families in Pennsylvania. He uncovered 10 new inherited disorders and went on to search, map and identify genes responsible for thousands of other inherited conditions.

He climbed the ranks at Hopkins, leading the medical genetics division he'd founded until 1973, when he became chairman of the Department of Medicine and physician-in-chief of Johns Hopkins Hospital.

He held those posts until 1985, when he was named university professor of medical genetics.

In addition to his wife and brother, survivors include three children, Carol Anne McKusick of Urbana, Ill., Kenneth Andrew McKusick of Ruxton, Md., and the Rev. Victor Wayne McKusick of Herkimer, N.Y.

Dr. McKusick proposed mapping the human genome in 1969 at a conference in The Hague on birth defects.

"It took a little nerve," he said later, because nobody then had the tools to do the job. "I'm a congenital encyclopedist. I enjoy keeping on top of all the information. Also, I feel I have a tiger by the tail. I don't dare let go: It'll eat me up."

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