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
