Lives of the fellows

Victor Almon McKusick

b.21 October 1921 d.22 July 2008
MD Johns Hopkins FACP FRCP(1974)

Victor Almon McKusick was a distinguished professor of medical genetics at Johns Hopkins School of Medicine, Baltimore, Maryland. Widely known as the father of modern medical genetics, he was, in 1969, one of the pioneers of the mapping of the human genome and a strong advocate of the Human Genome Project (HGP). In its early days many thought the project impossibly ambitious but he was to live to see a working draft of the human genome released in 2000 and a complete one three years later.

Born in Parkman, Maine, USA, his father, Carroll Lee McKusick, was a high school principal turned dairy farmer and his mother, Ethel née Buzzell, had been an elementary school teacher and was the daughter of Silas Almon, who kept the general store. When he was 15 he had to spend some time in hospital with an arm infection. Before that time he had been contemplating becoming a minister, but his experiences in hospital inspired him to take up medicine. In 1940 he attended Tufts University in Medford, and, in 1943, moved to the Johns Hopkins School of Medicine as he was impressed by their excellent reputation. Regulations were relaxed during the Second World War so he was able to enrol without an undergraduate degree. Intending to work as a general practitioner when he qualified, he won the prestigious William Osler internship in internal medicine and proceeded to train as a cardiologist.

Eventually he was appointed head of the cardiovascular unit at the Baltimore Marine Hospital and studied various conditions including heart sounds, heart murmurs and heart defects. In the course of this work he became fascinated by patients suffering from rare inherited disorders such as Marfan’s syndrome which often resulted in death due to a rupture of the aorta and Peutz-Jeghers syndrome which leads to unusual skin pigmentation and a highly increased risk of intestinal cancer. He realised, correctly, that seemingly unconnected symptoms could all be associated with a single abnormal gene and, towards the end of the 1950s he decided shift the focus of his career. In an interview in 1957, the year in which he founded the Johns Hopkins division of medical genetics, McKusick said that some of his colleagues ‘thought I was committing professional suicide in leaving cardiology to concentrate on rare and unimportant genetic disorders’.

The unit, along with a similar one in Washington, was the first in the USA. At the time it was only four years after Watson and Crick had revealed the structure of the DNA molecule and one year after the discovery that the correct number of human chromosomes was 46. He continued to study, and meticulously catalogue, rare familial disorders and one particular form of dwarfism, suffered by the Amish, is now known as the McKusick-Kaufman syndrome. In 1966, he published Mendelian inheritance of man (Baltimore, Johns Hopkins University Press, 1966) which was a catalogue of all best known genes and genetic disorders. The first edition contained 1,500 entries – it has now grown to 12 editions and 20,000 entries and is available only online.

He published widely on topics including genetics, medical genetics, cardiology, internal medicine and history of medicine. Among his many books were Heritable disorders of connective tissue (St Louis, Mosby, 1956), now in its fifth edition, and Medical genetic studies of the Amish (Baltimore, Johns Hopkins University Press, 1978) which he edited. He also edited two journals, Genomics, which he founded in 1987 with Frank Ruddle, and Medicine.

Throughout his career at Johns Hopkins which stretched over six decades he held numerous prestigious academic appointments and was awarded many honours. Among them were the Gairdner award in Canada; the Albert Lasker Award for Special Achievement in Medical Science (1997); the National Medal of Science, the highest scientific honour in the US, in 2001; and the Japan Prize in Medical Genetics and Genomics (2008). He also played a leading role in the investigations as to whether Abraham Lincoln had Marfan syndrome. A member of the US Academy of Sciences, he was also founding president of the Human Genome Organisation (HUGO).

A keen photographer, he also enjoyed foreign travel.

In 1949, he married Anne née Bishop, whose father, Fred Margeson Bishop, was an optical physicist. She was also medically qualified and she became associate professor of medicine in the division of rheumatology at Johns Hopkins. When he died of cancer, Anne survived him, together with their sons, Kenneth A of Ruxton, Maryland, and the Rev Victor W of Herkimer, New York and daughter, Carol Anne of Urbana, Illinois. He was also survived by his identical twin, Vincent, who was a retired chief justice of the Supreme Court of Maine.

RCP editor

[The Times 1 August 2008; New York Times www.nytimes.com/2008/07/24/health/24mckusick.html - accessed 23 February 2015; Wikipedia http://en.wikipedia.org/wiki/Victor_A._McKusick - accessed 3 November 2008; Johns Hopkins Press Release www.hopkinsmedicine.org/Press_releases/2008/07_23_08.html - accessed 4 August 2008]

(Volume XII, page web)

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