A Genetics Pioneer Who Mapped the Inner World
Thursday, July 24, 2008
Insights from the fully transcribed human genome -- those 3 billion letters of DNA -- will drive the medical discoveries of the 21st century and probably the 22nd century as well. And yet the person most responsible for this astonishing advancement seemed fully rooted in the 19th.
Not that Victor A. McKusick was born that long ago. The "father of medical genetics," and chief advocate of the once-outlandish notion of mapping and sequencing all the human genes, was born on Oct. 21, 1921. (This was a Friday; characteristically, he had researched the date.) He was 86 when he died Tuesday at his home outside Baltimore.
In education and interests, and to a great extent in work habits and demeanor, McKusick was from an era before his birth. He was from a time when lineage, locality and history shaped people's lives in ways they don't anymore.
It seems logical that McKusick's background -- he was a farm boy who grew up within a day's walk of where all four of his great-grandfathers had been born -- was a big part of the reason he was naturally drawn to genetics, the field of biology characterized by the simple persistence of things.
Add to that the fact that McKusick was an identical twin, and the deal was clinched. He was his own anecdotal evidence, a walking embodiment of how life is a conversation between what you bring in the form of genetic endowment and what you experience as a consequence of choice and chance.
McKusick's father had had an episode of exhaustion while working as a principal and school superintendent in Vermont. He was advised to seek outdoor work as a way to calm his nerves. (Similar advice was given to Robert Frost; that is what passed for psychiatric care in Northern New England at the time.) He moved back to his home town, Parkman, Maine, (pop. 550 in those years) and became a dairy farmer. Victor and his brother, Vincent, grew up there.
Like all dairy farmers, theirs was a life of early mornings, long silences and ceaseless work. McKusick went to a one-room elementary school. His high school offered no science courses.
Early on, though, Victor decided he wanted to be a physician. He attributed his interest to a 10-week sojourn as a teenager in Boston, where he was treated for a chronic skin infection he got from haying. (It was cured with sulfanilamide, which had just arrived in the medical armamentarium).
After college and medical school, both shortened by World War II, the physician settled into an academic career at Johns Hopkins. At the time he chose medical genetics as his field of interest, the number of human chromosomes was not known for certain. (The question was resolved in 1956, as 46 -- 23 pairs, including the sex chromosomes).
Consequently, much of his research consisted not of the laboratory-based, basic-science, disease-mechanism kind that makes the reputations of famous Johns Hopkins doctors. There just wasn't the knowledge or the tools to do that in medical genetics in the '50s and '60s.
The work was much more basic. McKusick's self-appointed task was to find diseases that appeared to be attributable -- all or mostly -- by inheritance, and then to prove the assertion by collecting incontrovertible genealogies.
McKusick became famous doing this among the Amish of Pennsylvania, a community descended from a few handfuls of founding families. Although averse to contact with outsiders, they accepted him, he believes, because he displayed the taciturn straightforwardness of a dairy farmer (and knew that weather and "relations" were big topics when it came time to talk). He and his colleagues ultimately became the stewards of medical care for many of these individuals.