Gene Detective

Sarah Topol '04 helps a research team discover a genetic link to heart disease

It's not often that a college student's summer job becomes part of a groundbreaking medical discovery and leads to an appearance on 60 Minutes II. But that's what happened to Sarah Topol '04, who worked at the Cleveland (Ohio) Clinic Cardiovascular Research Coordinating Center during the summer after her first year at Kenyon. The center, called C5 for short, had done a study on sibling pairs who had suffered heart attacks and was expanding it to include those siblings' extended families.

As the study coordinator, Topol worked ten to twelve hours a day, six days a week, tracking down family members all over the country. "It was like a cross between being a detective and feeling like a telemarketer," she says. "I think I made at least a thousand phone calls." She returned to the job during winter break of her sophomore year and the following summer.

The research came to fruition in November 2003, when the C5 team announced that it had identified the first gene confirmed as a cause of coronary heart disease in humans. The discovery was based on a methodical genetic study of twenty-one members of an Iowa family plagued for generations by coronary artery disease and heart attacks. The problem, it turned out, was a "deletion mutation" that resulted in plaque buildup on coronary-artery walls, according to Dr. Eric J. Topol, chairman of the Department of Cardiovascular Medicine at the Cleveland Clinic and the clinic's provost-and Sarah's father. Dr. Topol says it's unlikely that many other families have the exact same genetic mutations. Instead, researchers will seek to pinpoint other mutations involving the same gene.

In the wake of the announcement, CBS's 60 Minutes II flew the Topols, daughter and father, to Buffalo Center, Iowa, where they met members of the family central to the discovery. The resulting program, which aired in December 2003, showed the Topols with more than one hundred members of the extended family, which includes about two hundred and forty members overall. The experience has led Sarah, an anthropology major, to consider a career in public health.