Impossible

Things

Through­the­Looking­­

Glass­ With­FSH­Dystrophy­

Researchers

“There’s no use trying,” [Alice] said: “one can’t believe impossible things.”

“I daresay you haven’t had much practice,” said the Queen.

— Through the Looking-Glass,
and What Alice Found There,
by Lewis Carroll, 1871
Illustrations by John Tenniel

by Margaret Wahl

In 1990, Sara Winokur was a doctoral student in the laboratory of John Wasmuth, a professor of biological chemistry and a prominent researcher in genetics at the University of California at Irvine.

It was an exciting time in genetics. The genes that, when mutated (flawed), cause diseases, were rapidly being identified. Among the first, in 1986, had been one for Duchenne muscular dystrophy.

By late 1990, researchers knew that something on chromosome 4 was going wrong in people with facioscapulohumeral dystrophy

(FSHD), a type of MD that showed a preference for the facial, shoulder and upper arm muscles.

Winokur recalls Wasmuth’s enthusiasm for finding the FSHD gene. (Wasmuth died unexpectedly in 1995 at the age of 49.)

“This is a great project for you,” he told her, “because now it’s been mapped to chromosome 4. In another three or four years, you’ll know what the mutation is, what the gene is and what the problem is.”

“I thought it sounded great,” Winokur says. “So I started to work on the project.

“Here it is [more than] 15 years

­ 28­Quest