Dr.

Louis J. Ptacek

University of California, San Francisco
Area
Biological Sciences
Specialty
Medical Sciences
Member Since
2008

Dr. Louis J. Ptácek is the John C. Coleman Distinguished Professor in Neurodegenerative Diseases, Professor of Neurology, and Director of the Division of Neurogenetics at the University of California, San Francisco. He is also an Investigator of the Howard Hughes Medical Institute. Ptácek has made seminal contributions to human behavioral genetics, and was the first to identify mutant ion channel genes that laid the groundwork for the field now known as "channelopathies." He also was the first to characterize a variant gene in human circadian function underlying a sleep disorder. Ptácek’s research has focused on human families with inherited disorders of the nervous system, identifying genes that cause these diseases, and studying both the normal and mutant proteins encoded by some of these genes. Study of these rare, single-gene disorders may yield insights into common and complex diseases. His lab integrates clinical and basic research to understand aspects of normal brain function including human sleep behavior, and the molecular basis of diseases such as epilepsy, cardiac arrhythmias, and migraine headache.  Normal 0 false false false EN-US JA X-NONE

Last Updated