Victor McKusick, widely regarded as the father of medical genetics, died on Tuesday, July 22, of complications due to cancer. He was 86 years old.

McKusick's colleagues remember him as a prodigious yet unassuming man of science and medicine. "I've never really known anybody who achieved so much and worked so hard as Dr. McKusick," Vincent Gott, McKusick's long-time collaborator at Johns Hopkins, told The Scientist. "He was absolutely brilliant and yet very soft spoken and understated."

McKusick spent his whole professional career at Johns Hopkins in Baltimore. He was awarded the Albert Lasker Award for Special Achievement in Medical Science in 1997 and the National Medal of Science in 2002 for his contributions to the field of medical genetics.

In 1942, McKusick entered medical school at Johns Hopkins before finishing his bachelor's degree (Hopkins relaxed that prerequisite to combat waning enrollment during World War II)....

McKusick became interested in studying the link between genes and disease as a cardiologist in the late 1940s as he examined patients with Marfan syndrome, a genetic disease that affects connective tissues throughout the body, including in the heart. Through the 1950s, McKusick saw many Marfan patients, compiled inheritance records for the disease, and established a Marfan clinic at Johns Hopkins in 1955. He increasingly saw patients with other genetic conditions and in 1957 founded the Division of Medical Genetics at Hopkins, a clinic and research facility that he headed until 1973. 

"Some of my colleagues thought I was committing professional suicide" by leaving cardiology to work on rare diseases, McKusick told the Baltimore Sun earlier this year. 

As he continued to treat patients and conduct research, McKusick published a compendium of genetic information entitled Mendelian Inheritance in Man (MIM) in 1966. This catalogue of genes and genetic conditions is the central reference book for inherited diseases, and the electronic version Online Mendelian Inheritance in Man (OMIM), launched in 1995, is updated on a monthly basis.

Reed Pyeritz, who was a resident under McKusick and is now chief of the medical genetics division at the University of Pennsylvania, told The Scientist that McKusick's success resulted from his work ethic. "A lot of what he was able to accomplish," said Pyeritz, "occurred because he just worked so darn hard." At a conference four or five years ago where Pyeritz was asked to introduce McKusick, he said he made the mistake of referring to him as "Professor Emeritus." When McKusick took the stage, said Pyeritz, he assured the audience that he was not emeritus, even though he had cut his hours at Johns Hopkins in half. "I only work 12 hours a day now," McKusick said, according to Pyeritz.

Harry Dietz, professor in the McKusick-Nathans institute of Genetic Medicine (named for McKusick and late Hopkins Nobel laureate Daniel Nathans in 1999) and a collaborator of McKusick's in the 1980s and 1990s, told The Scientist that though he was extremely focused on research, McKusick maintained a connection with his patients. "[McKusick's patients] truly believed that they were the most important people in his life," Dietz said. But McKusick went further, using his clinical interactions to inform his scientific work, according to Dietz, also an investigator at the Howard Hughes Medical Institute. "He was uniquely adept at making the connection between the life experiences and clinical presentation of a patient and the basic mechanisms of the disease he was trying to study."

Following on from his work identifying and mapping genes responsible for Marfan syndrome, McKusick studied the genetic causes of dwarfism and other disorders, focusing extended research on the genetic disorders within Amish groups in Pennsylvania.

Years before the human genome was actually mapped, McKusick encouraged researchers to begin the project. "He stimulated the whole concept of a human genome project," said Dietz. "He was the loudest voice saying, "Yes, this is going to be worth our while," Dietz added. "Wresting order from chaos is not an overstatement for what he did for science," he said.

McKusick is survived by his wife Anne and three children, as well as his twin brother, Vincent.

Bob Grant and Edyta Zielinska

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