With patient visits along the way, [Dr. Edward Kasarskis and Debby Taylor would] be tracing, in reverse, the path of the families’ ALS-causing genetic mutation back to one of its sources near the Cumberland Gap. The region is thick with myth — and, consequently, tourists, who come to hike and inspect dioramas of their forebears wending through an opening in the mountains to settle the Western frontier. The researchers’ interest is a little different: This corner of Appalachia runs thicker with a particular form of inherited ALS than almost anywhere else.
…[Kasarskis] hopes that his [family tree]-guided road trips might yield a treatable target, something to take advantage of these advances. After every expedition, he and Taylor drive whatever blood they’ve managed to collect — if any — back to Lexington, to biochemist Haining Zhu’s lab.
First, they’re looking at the FUS gene, which can, in concert with each person’s clinical history, tell the team [if the person could have ALS]. Later, Zhu plans to widen his scope. He’s hoping to find other snippets of DNA that modify how the body deals with that genetic error in FUS, determining whether or not someone gets the disease. “If it’s environmental, then it’s a totally different ballgame,” said Zhu. “That’s much more difficult to figure out. So we’re operating under the hypothesis that there is a genetic factor.”
Read full, original post: An Appalachian odyssey: Hunting for ALS genes along a sprawling family tree