'Father of medical genetics'

Professor explored inherited diseases

Dr. Victor A. McKusick 1921-2008

July 24, 2008|By Chris Emery | Chris Emery,SUN REPORTER

Dr. Victor A. McKusick, a Johns Hopkins professor who pioneered the study of medical genetics and spent his career exploring how patients' genes predisposed them to medical disorders, died of cancer Tuesday at his home in Towson. He was 86.

Often referred to as the "father of medical genetics," Dr. McKusick was widely credited with helping establish the scientific link between inheritance and disease.

His meticulous research into rare genetic disorders - an intellectual pursuit he was discouraged from exploring as a young cardiologist - led to modern methods of classifying and treating inherited diseases.

"Today we lost a giant," Dr. Edward D. Miller, dean and chief executive officer of Johns Hopkins Medicine, said yesterday in a prepared statement. "He spent virtually all of his incredible career at Hopkins, but his influence and legacy reach around the world."

Dr. McKusick's life was spent studying genetic variation, but he entered the world in 1921 as a case of genetic similitude with an identical twin brother, Vincent. They grew up on a Maine dairy farm run by their parents, who were former school teachers.

He entered Tufts University in 1940, but ended his undergraduate studies early in 1943 to start at the Johns Hopkins University School of Medicine. He married Dr. Anne Bishop, another Hopkins physician, in 1949.

Dr. McKusick trained as a cardiologist and served as the executive chief of the cardiovascular unit at Baltimore Marine Hospital, but an encounter with a single patient altered the course of his career.

While examining a patient with Peutz-Jeghers syndrome, a rare inherited disease that puts patients at high risk of developing intestinal cancer and causes odd skin pigmentation, Dr. McKusick became curious about how a single genetic mutation led to problems in various organs.

He began carefully documenting the symptoms associated with another genetic disorder, Marfan syndrome, which causes people to develop unusually tall, lean bodies, along with heart defects and other abnormalities.

In the late 1950s, just a few years after DNA was discovered, he decided to devote his career to medical genetics.

"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 said in an interview earlier this year.

In rare disorders, however, Dr. McKusick found a clear window into patients' DNA. He studied a range of diseases that ran in families, including dwarfism and disorders associated with the Old Order Amish of Pennsylvania - a group with an unusual degree of genetic uniformity.

In the process, he developed a system for attributing diseases to certain genetic mutations by cataloging the symptoms they caused.

"The techniques we have now weren't around back then, so he studied disorders where the [genetic link] was very obvious," said David Valle, director of the eponymous McKusick-Nathans Institute of Genetic Medicine at Hopkins. "Now, of course, we are seeing genetics move into all aspects of medicine. In that way he contributed to all the advances we see today."

In 1966, Dr. McKusick published the first edition of Mendelian Inheritance of Man, a compendium of inherited disorders that included 1,500 entries. Now published online after 12 print editions, it has grown to more than 20,000 entries.

"He was fantastic at finding patients with multiple problems," Valle said. "There was no rare condition that was caused by a mutation of a particular gene that Victor wasn't interested in."

Two disorders carry his name: McKusick type metaphyseal chondrodysplasia, a form of dwarfism found among the Amish; and McKusick-Kaufman syndrome, a developmental disorder marked by congenital heart disease, buildup of fluid in the female reproductive tract and extra fingers and toes.

Dr. McKusick also played a key role in laying the scientific infrastructure for modern genetics research, helping establish the Human Genome Project and the influential journal Genomics.

In 1960, he was co-founder of the Short Course in Medical and Experimental Mammalian Genetics. Referred to simply as the "Short Course," the educational program is held yearly at Jackson Laboratory, in Bar Harbor, Maine, and is considered a rite of passage for aspiring medical geneticists.

"His impact was huge, both from his own research contributions and from his very extensive community activities," said Kenneth Paigen, staff scientist and former director of the Jackson Laboratory.

Dr. McKusick served as the chief of medicine at Hopkins from 1973 to 1985. He retired in December, having won numerous awards during a career at Hopkins that spanned six decades. Among the most prestigious were the Albert Lasker Award for Achievement in Medical Science, which he received in 1997, and the Japan Prize in Medical Genetics and Genomics, which he won in January.

A memorial service will be held at 2 p.m. Aug. 2 at the Second Presbyterian Church of Baltimore at 4200 Saint Paul St.

In addition to his wife and brother, he is survived by a daughter, Carol A. McKusick of Urbana, Ill.; and two sons, Kenneth A. McKusick of Ruxton and the Rev. Victor W. McKusick of Herkimer, N.Y.

chris.emery@baltsun.com

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