Dr. Louis Ptácek

Dr. Louis Ptácek, a leader in the field of human neurogenetics, was recruited to UCSF one year ago to lead a Division of Neurogenetics within the Department of Neurology. He holds the John C. Coleman Distinguished Professorship in Neurodegenerative Diseases and is an Investigator of the Howard Hughes Medical Institute. His group has done the defining work establishing the molecular basis for a large group of episodic disorders that have come to be known as the “channelopathies” because many result from mutations in a variety of voltage- and ligand-gated ion channels. More recently, he and Dr. Chris Jones described a Mendelian variant of circadian behavior in humans called familial advanced sleep-phase syndrome (FASPS). His productive collaboration with Dr. Fu over the last 8 years has resulted in the identification and characterization of numerous genes causing muscle disease, epilepsy, movement disorders and FASPS. They have moved from identifying genes and genetic variants causing human phenotypes to biological characterization of the encoded proteins and modeling of the phenotypes in other organisms. More information...