Wiskott-Aldrich Syndrome: Molecular Pieces Slide Into Place

Extract

When the News last reported on Wiskott-Aldrich Syndrome 3 years ago, the mood among scientists who study this rare condition could be summed up in one sentence: Boy, have we got a lot of work to do. It was a refrain heard throughout science as advances in analyzing DNA helped researchers find scores of disease genes — including the WAS gene in 1994 — with few clues about what the genes actually do in cells.

Like so many other “positionally cloned” genes, the WAS gene looked like nothing scientists had seen before. Database searches came up empty in linking it to a known gene family, a clue sometimes helpful in chasing down a gene's function, and scientists in just 2 years of study already had tallied 115 mutations from patient samples, meaning they would have to characterize the health effects of not one, but many, frequent alterations. As Hans Ochs, M.D., a long-time WAS researcher at the University of Washington School of Medicine, told the News, “Right now, we are feeling our way through. It is like marching through the woods without a trail yet.”