As with many behavioral studies, it's the extreme or unusual cases that eventually inform scientists about normal processes. A few years ago, a woman complained to investigators at the University of Utah in Salt Lake City that she felt an overwhelming desire to fall asleep around 7:30 p.m., and wake up before dawn, around 4:30 a.m. And she was not the only one--other members in her family had the same problem. This started Utah investigators on a research project that culminated in the first study to link a human genetic syndrome to what others had been discovering in animal clock-gene investigations. These family members, eventually recruited into the study, suffer from familial advanced sleep phase syndrome (FASPS).
Earlier this year, senior authors Louis Ptacek, a Howard Hughes Medical Institute (HHMI) investigator and a professor in the departments of neurology and human genetics at Utah, and university colleague Ying-Hui Fu, a ...