A Genetics Pioneer Who Mapped the Inner World

Some of McKusick's colleagues viewed his research as the medical equivalent of stamp collecting. A few wondered if it was even science.

But McKusick perceived that the future of medicine -- and immense insight into the molecular gears and switches that are the science of life -- lay in the direction he was heading. If getting there required going house to house, examining babies, asking about grandparents, and talking about silage, he was more than happy to do it.

When he proposed, in the late 1960s, that all the human genes be mapped to the individual chromosomes in their own specified order, it was an idea that seemed preposterous, difficult and boring -- exactly what a medical researcher didn't want for a career goal.

In truth, it was that for a while.

McKusick, never a laboratory scientist, left the arduous work of gene-mapping to others. Back then, mapping a gene -- when it was possible -- took years. (Today, it pours out of an automated sequencer and computer in weeks).

Instead, he continued to look for heritable diseases and created a catalogue of what he and others found. He became the historian and compiler of mankind's emerging genome, which of course is itself a history and compilation of thousands of biological events, both successful and not.

"He was the one on the planet who held the faith and who thought that it was actually worthwhile to map the genes," Peter Goodfellow, a distinguished English geneticist, said last year.

McKusick testified before congressional committees, seeking support for the Human Genome Project. He would pull sequential editions of his catalogue, "Mendelian Inheritance in Man," from an L.L. Bean canvas bag and stand them up on the table. Each was thicker than the last. They stood as visual witnesses to the slow accretion of knowledge.

Genetics and genomics are not all of life. (After all, McKusick's identical twin became a lawyer, not a doctor). But for the moment, they are the future of medicine.

Victor McKusick was one of the first to know it.