UCI Sleuth Glad Science Got Its Gene : Research: Specialist in human genetic diseases spent eight years on case of Huntington’s culprit. He joins colleagues at victory press conference.
UC Irvine Prof. John Wasmuth once described his eight-year search for the gene that causes Huntington’s disease as a fascinating “detective story,” one that would some day end in success.
“Oh sure,” he said, the gene “will be found. I used to say, in a year, in a year. . . . I thought it would be found by now.”
Tuesday he was finally proved right.
Wasmuth joined colleagues from around the country who had cooperated in an extraordinary collaborative effort to locate the gene. The press conference announcing the discovery was held at Massachusetts General Hospital, site of the laboratory of James F. Gusella, who actually found the gene.
Wasmuth, who acknowledged that competition helped spur the science, said before the press conference that he “didn’t feel envy at all” that it was Gusella who discovered the elusive gene on chromosome 4. “Just as long as it was someone within the six” research teams from nine institutions that worked on the search, he said. “We’ve worked too hard and too close” for jealousy.
Wasmuth, 46, was doing research in human genetic diseases when he was invited to meetings of the Santa Monica-based Hereditary Disease Foundation. He decided after a 1985 session to enlist his UCI lab in the Huntington’s quest.
In 1983, Gusella found the first genetic marker for the disease, a gene that does not cause the malady but was known to be somewhere close to whatever gene was the culprit. In later years, Wasmuth’s lab found another marker.
In all, the Huntington’s Disease Collaborative Research Group included 58 scientists. One of them, Rita Shiang of UCI, joined Wasmuth in Boston for the press conference.
Wasmuth said that about 10 people at UCI worked on the Huntington’s research over the years. One, Michael Altherr, worked in Wasmuth’s lab for about five years, leaving six months ago to take over a lab of his own at Los Alamos National Laboratory. “He was extraordinarily excited and a little disappointed he left six months before the gene was found,” Wasmuth said.
Also missing out on the trip to Boston was Wasmuth’s wife, Judy, a real estate agent. The press conference was rescheduled and she was unable to change her plans.
Wasmuth’s other major research project involves 11 full-time researchers and a part-timer at UCI, where he has taught and done research for more than 13 years.
That is known as the Human Genome Project, a $3-billion, 10-year international attempt at providing a “map” of all the 50,000 to 100,000 genes that make up the human genome, the genetic inheritance contained in every human cell.
Science is filled with stories of discoveries made by searchers who went back and redid someone else’s work, learning that the original scientist overlooked the culprit, just went right past it without realizing the answer was right there. Wasmuth said he was happy that did not happen this time.
“No one made any stupid mistakes along the way,” he said. There was “not a thing we could have done to speed (the discovery) up along the way, nothing we could have done differently.”
