Narcolepsy has long fascinated sleep researchers because it is the only known neurological disorder that affects the generation and organization of sleep. In 1999, scientists of these Hot Papers identified the genes that cause narcolepsy, opening the door to understanding sleep at a molecular level. The findings marked the first time that a sleep gene was isolated, and led directly to understanding narcolepsy's pathology.
The genetic pathway--involving a neuropeptide called orexin or hypocretin, and its receptor gene--was identified in two, nearly simultaneous, publications in Cell. A group at Stanford University discovered the receptor gene, and a group at University of Texas Southwestern Medical Center discovered the ligand gene. "The papers essentially confirmed one another. That's very important. It's rare to get an instant confirmation of a finding like this," says psychiatrist Emmanuel Mignot, of the Center for Narcolepsy at Stanford University School of Medicine and the senior investigator on the ...