Louis  J.  Ptáček , M.D.

Louis J. Ptácek, M.D. is the Director of the Division of Neurogenetics at the University of California, San Francisco School of Medicine, where he holds the John C. Coleman Distinguished Professorship in Neurodegenerative Diseases. He is also an investigator with Howard Hughes Medical Institute. He received his M.D. from the University of Wisconsin and did his residency in neurology at the University of Utah. Dr. Ptácek's research focuses on genetic diseases of muscle, heart and brain, and hereditary variation of human sleep behavior. Dr. Ptácek pioneered the field of channelopathies by showing that disorders such as periodic paralysis and non-dystrophic myotonias are caused by genetic mutations that affect ion channel proteins in neurons. He and his collaborators continue to probe the pathophysiology of episodic neurological diseases. His group has also identified genes causing cardiac arrhythmias, epilepsy and migraine headache. More recently, he and collaborators have identified the first Mendelian human circadian rhythm variants and cloned a number of genes causing altered sleep schedules. Such studies are leading to insights about the molecular basis of these human phenotypes and to similarities and differences between human physiology and that of other organisms.