Louis Ptáček, MD

Louis Ptáček, MD

SRS Distinguished Scientist

Distinguished Professor of Neurology, University of California, San Francisco

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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.