On a frigid weekend in the winter of 2004, a medical charity held a meeting at the Yarrow Hotel in Park City, Utah, to discuss a problem. It had been nearly ten years since geneticists Irwin McLean and Frances Smith had discovered the genetic underpinnings of pachyonychia congenita, a rare and extremely painful skin disorder. But a cure was nowhere in sight.
Between runs down nearby ski slopes, several scientists threw out ideas for treating the disease. And one of them stuck. “We had decided that probably the most promising approach was gonna be siRNA-based technology,” says Sancy Leachman, a dermatologist from the University of Utah who helped organize the meeting.
Since pachyonychia congenita is an autosomal-dominant condition caused by the production of misshapen keratin 6a molecules, it seemed reasonable that knocking down the mutant gene could remedy the disorder. The disease affects approximately 5,000 people worldwide, and causes massive ...
