Professor, Department of Neurology
Investigator, Howard Hughes Medical Institute
John C. Coleman Distinguished Professorship in Neurodegenerative Diseases
Dr. Ptáček was recruited to UCSF to lead a Division of Neurogenetics within the Department of Neurology. Dr. Ptáček is a leader in the field of human neurogenetics. His group began work years ago to characterize 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 Chris Jones described a Mendelian variant of circadian behavior in humans called familial advanced sleep-phase syndrome (FASPS). His productive collaboration with Dr. Ying-Hui Fu over the last decade has resulted in the identification and characterization of numerous genes causing muscle disease, epilepsy, movement disorders and FASPS. Their work has always begun by studying families with neurological phenotypes but has translated into biological characterization of the encoded proteins and modeling of genetic variants in other organisms.