Victor McKusick: Cardiologist who pioneered the clinical study of genetic diseases

Victor McKusick founded the clinical study of genetic diseases and was a leading instigator of the Human Genome Project, serving as the founding president of the Human Genome Organisation from 1988 to 1991. In his six-decade career he published a compendium of all known human genes which is now available free online, with over 20,000 entries. He laid down the basis of relating symptoms to genetic mutations, the scientific infrastructure of genetic research, and established the journal Genomics. He mapped the genes for Duchenne muscular dystrophy and several forms of dwarfism.

Two mutations bear his name, both of which are found in the Amish community: McKusick metaphyseal chondrodysplasia, a form of dwarfism, and McKusick-Kaufman syndrome, consisting of congenital heart disease, extra digits and sex organ malformations.

It all came about because, as a young cardiologist, he recognised that seemingly unrelated symptoms in certain heart patients formed a pattern. Marfan syndrome consists of heart abnormalities, excessively long, lean body shape, thin fingers, and sometimes defects of the lungs, eyes, and the membrane surrounding the spinal cord. He was intrigued that what he rightly presumed was a single faulty gene could cause widely different abnormalities.

This was in the early 1950s and soon after Watson and Crick had unravelled the structure of DNA. McKusick decided to devote his career to medical genetics in preference to cardiology. His colleagues thought he was committing professional suicide.

Initially, when there were few techniques for studying genetics, he focused on diseases that ran in families, particularly among the Old Order Amish of Pennsylvania.

McKusick's parents were teachers who became dairy farmers in Maine, New England. He had an identical twin brother, Vincent, who was to become chief justice of the Maine supreme court. The boys got their early education at a village school. Their parents were church-going, and Victor planned to become a Presbyterian minister. But at 15 he suffered a spreading infection of his arm and spent 10 weeks in hospital, where he was cured by one of the new sulphonamide drugs, and at that point decided to become a doctor.

He entered medical school at Tufts University in Massachusetts in 1940. Around this time he read an article in Time magazine about four of America's greatest physicians, all alumni of Johns Hopkins. Hopkins only took graduates into their medical school but in 1942, with the Second World War on, they relaxed their rules to take a handful of students from other medical schools including McKusick, who was to stay there for the whole of his working life. He had intended a career in general practice but won a training fellowship in cardiology, and progressed rapidly through the ranks.

In 1966 McKusick published the first edition of Mendelian Inheritance in Man, a compendium of 1,500 human inherited disorders. It went into 12 print editions and is now published, free, on the internet, and has over 20,000 entries.

McKusick founded a genetics course at the Jackson Laboratory in Bar Harbor, Maine, that is an essential rite of passage for aspiring geneticists. He received an Albert Lasker Award in 1997, as well as 21 honorary degrees from around the world. In 2001 he was awarded the United States National Medal of Science. He was the author or co-author of a dozen books on genetics and medical history, and published 500 research papers.

McKusick had a rich and self-deprecating humour, and described himself as a congenital encyclopaedist. He said of the Human Genome Project, "I feel I have a tiger by the tail. I don't dare let go. It'll eat me up." "Victor was an outstanding medical geneticist," said Sir Walter Bodmer. "He had an enormous influence on the field, including his strong support for the Human Genome Project. He and his wife Anne were most friendly people, and in Victor McKusick's death, I feel I have lost a real friend."

Caroline Richmond

Victor Almon McKusick, physician, geneticist and cardiologist: born Parkman, Maine 21 October 1921; Head of the Cardiovascular Unit, Baltimore Marine Hospital 1948-50; Professor of Medical Genetics, John Hopkins University School of Medicine 1957-73, William Osler Professor of Medicine 1973-85, University Professor of Medical Genetics 1985-2007; Founding President, Human Genome Organisation 1988-91; married 1949 Anne Bishop (two sons, one daughter); died Towson, Maryland 22 July 2008.