A Global Database For Disease Research

摘要

Just before Christmas in 1994, Sharon Terry's two children were diagnosed with pseudoxanthoma elasticum, or PXE-a rare, sometimes debilitating genetic disease that hardens elastic tissues, often affecting skin around the neck and joints. Poring over papers at medical libraries, she found the available research was unlikely to point to a cure for Elizabeth, then 7, and Ian, then 5. "This is really a disjointed field that has no systematic way of studying diseases," she says. Terry, a former campus minister, has spent the past two decades trying to change that. Since 2004 she's headed the Genetic Alliance, a Washington (D.C.)-based nonprofit network linking patient groups and researchers. According to the National Institutes of Health, 6,800 rare illnesses afflict up to 30 million Americans. Scientists working on cures struggle with limited data. Recruiting patients is the biggest expense of medical trials, making up nearly a third of the cost, says consulting firm Cutting Edge Information.