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From: "Peter McCrae" <>
Subject: [W-OBITS] MCKUSICK: Victor Almon McKusick 2008
Date: Sun, 3 Aug 2008 12:48:02 +0100

Victor McKusick
Physician who demonstrated the role of genes in abnormalities such as

Last Updated: 9:12PM BST 30 Jul 2008


McKusick: championed the sequencing of the human genome Photo: AFP/GETTY
Victor McKusick , who died on July 22 aged 86, was a pioneer in the field of
genetics and showed the role that genes play in inherited diseases and
abnormalities such as Marfan syndrome and dwarfism.

Although genetic hereditability is now accepted, the genetic links between
parents and offspring were not properly established until McKusick began
investigating the matter in the 1950s.

In 1966 he published Mendelian Inheritance in Man, a catalogue of inherited
disorders that included some 1,500 entries. Today, the catalogue has more
than 20,000 entries and has become a bible for medical geneticists around
the world.

The younger of identical twins, Victor Almon McKusick was born on October 21
1921 on a dairy farm at Parkman, Maine. In 1937 he suffered a chronic
streptococcus infection and spent two months in hospital before being cured
with sulphanilamide, a newly-developed antibiotic.

The experience convinced him that he wanted to become a doctor and in 1940
he entered the Tufts University medical school. He left before graduating to
enroll at Johns Hopkins University in Baltimore, then in the forefront of
medical research.

McKusick won a fellowship at Johns Hopkins and began training as a
cardiologist, developing an interest in heart sounds and murmurs, about
which he later published a classic text, Cardiovascular Sound in Health and

His career path changed, however, when he encountered a patient with Marfan
syndrome, a genetic disorder characterised by an array of signs, including
elongated limbs and defects in the eyes, heart and blood vessels.

Abraham Lincoln is said to have been afflicted. Sufferers often die from
rupture of the aorta, the body's main artery.

In 1953 Crick and Watson had published their groundbreaking work on the
structure of DNA and in 1956 scientists established the number of human
chromosomes at 46.

McKusick surmised that the seemingly unrelated symptoms of Marfan syndrome
were produced by a defect in a single gene that disturbs the formation of
connective tissue.

In 1991 he would publish a paper identifying the gene as FBN-1, a discovery
that led to some potential new treatments now undergoing clinical trials.

In 1957 he established a medical genetics centre at Johns Hopkins. "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," he told an interviewer earlier this year.

In the 1950s and 1960s scientists lacked the techniques to do the sort of
laboratory-based genetic research which is possible now. Instead McKusick
looked for diseases that appeared to be attributable to inheritance and then
tried to prove the assertion by collecting family genealogies.

Dwarfism, which is unusually common in the genetically-isolated Amish
population, was the first disorder he studied in detail.

Although suspicious of outsiders, the Amish accepted McKusick because, as
the son of a dairy farmer born into a religious family, he had some
understanding of their interests and way of life.

His studies of the Amish served as a model for other studies of similarly
isolated populations and fired him with a determination to identify and
catalogue genetic disorders that result in multiple physical signs.

In 1968 his team mapped the gene for a blood group on chromosome 1, the
first time a gene had been identified on a non-sex chromosome.

The next year he was one of the first scientists to call for the mapping and
sequencing of the human genome. It failed to arouse interest but, in 1989,
he became the founding president of the Human Genome Organisation and
testified before congressional committees, seeking support for the Human
Genome Project.

McKusick continued to research and teach at Johns Hopkins for more than 60
years. He also edited the journal Medicine and received the American
National Medal of Science in 2001.

He is survived by his wife, Ann, and by a daughter and two sons.

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