UK researchers track genetic trail of ALS, one version of which is more common around Cumberland Gap than anywhere else
Two University of Kentucky researchers are on the genetic trail of amyotrophic lateral sclerosis, better known as ALS or Lou Gehrig’s disease. Their detective story has not reached its end, but it is told in fascinating fashion by Eric Boodman of Stat, the medicine-and-science publication of The Boston Globe.
The story is based around the Cumberland Gap, where Kentucky meets Tennessee and Virginia. “This corner of Appalachia runs thicker with a particular form of inherited ALS than almost anywhere else,” Boodman reports, and its chief tracker is Dr. Edward Kasarskis, the neurologist who discovered the cluster, beginning with one family in 1993. A family member on her deathbed told him of a relative who knew “the whole family history,” Kasarskis told Boodman, but she “just refused to talk to me.”
Though they have a roadmap, the research is slow. They “can’t just look up an address and show up at someone’s door. “Until they develop an illness and come to medical attention, they’re just a name on a chart, on a pedigree,” Kasarskis said. “We can’t legally go doing cold calls: ‘Hey, George, how’s it going? By the way, have you developed your ALS yet?’” So they must “wait for patients to come to them,” Boodman reports. “They don’t ask about participating in research right away; there is no cure for ALS, and the diagnosis can be devastating. . . . Some people don’t trust Taylor and Dr. K. Others don’t see how this research could possibly help them. Yet others simply refuse to accept the diagnosis.”