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.
Terry’s latest project is Registries for All Diseases, an online database where patients and scientists can share information that might lead to treatments. Reg4All links clinical data, including about 30,000 tissue samples, with patients’ responses to medical history surveys. It encourages respondents to volunteer personal details of their experiences with a disease that can be cross-referenced to draw connections that a conventional study would miss. “Sharon’s approach to research from the beginning has always been from the perspective of the person, from the consumer, from the patient, from the family member,” says Kelly Edwards, a bioethics professor at the University of Washington and an adviser to Genetic Alliance.
In the early days, Terry and her husband, a fire protection engineer, worked with medical interns at their home. She recalls one of their children asking, “Could you stop putting ovaries next to the ice cream in the refrigerator?” Since conducting the first DNA tests searching for PXE’s cause in a borrowed Boston lab, Terry has authored scores of peer-reviewed papers and served on dozens of medical councils, boards, and committees. She shares a patent for discovering the PXE gene. In December, French drugmaker Sanofi (SNY) awarded Reg4All a $300,000 grant.
During its first two weeks online in March, her site registered thousands of people from 46 states and 39 countries. Terry says she hopes Reg4All will encourage more medical volunteers. “It offers up the possibility for people to feel engaged with medical research,” says Margaret Anderson, executive director of FasterCures, which is trying to accelerate breakthroughs. There’s still no cure for PXE, but Terry has helped recruit about 40 patients for a new treatment’s first double-blind clinical trial, at Mount Sinai Hospital in New York. One of them is her daughter Elizabeth, now 25. “Most people don’t realize that they could be part of the solution for anything,” Terry says. “When they walk into Walgreens or CVS, the stuff on the shelves got there because somebody participated in some trial.”