SRS Distinguished Scientist
Distinguished Professor of Neurology, University of California, San Francisco
Dr. Louis Ptáček has used the tools of human genetics in the study of patients with an impressive range of human phenotypes. He pioneered the field of “Channelopathies” which encompasses a large group of episodic/electrical disorders of muscle, heart, and brain. His work begins with collection and characterization of human families segregating interesting phenotypes, identification of causative genes/mutations and in vitro and in vivo studies of these mutant proteins to understand molecular pathophysiology. In another line of work motivated by identification of a family with a genetic form of advanced sleep phase, he has now embarked into the challenging field of behavioral genetics. He and his colleague, Ying-Hui Fu, study the genetics of human circadian and sleep phenotypes. Ptáček and Fu have characterized mutations in a growing list of genes that underlie human circadian and sleep phenotypes. Detailed studies of these both in vitro and in vivo is leading to a better understanding of human circadian and sleep regulation. He is a member of the National Academy of Medicine, the American Association of Arts and Sciences, and the National Academy of Science.