Louis J. Ptáček, MD, is the 2015 recipient of the American Society for Clinical Investigation’s Stanley J. Korsmeyer Award for research leading to the development of the field of ion channel defects, known commonly as channelopathies.
During his time as a neurology resident at the University of Utah, Dr. Ptáček became interested in epilepsy and migraine because they are episodic in nature and very common. He also encountered a patient who, along with other members of her family, experienced temporary paralysis after physical exertion. He proposed this disease (and others like it) to be a good model for the abnormal electrical excitability in seizure and headache: compared with migraine and epilepsy, this muscle disease has a simpler and strongly genetic phenotype. In the early 1990s, he identified a mutation in a gene that caused abnormal electrical signaling and dysfunctional muscle contraction. Specifically, the defective gene encodes channels in the walls of muscle cells failing to properly transport sodium ions. Dr. Ptáček has since identified genes that produce the ion channel defects behind many related inherited muscle diseases, cardiac arrhythmias, and other disorders.
More recently, Dr. Ptáček and collaborators were the first to identify genes in humans responsible for regulating the circadian rhythm and sleep systems. This work has opened avenues to improved understanding of the similarity between the internal clocks of humans and other organisms, and has allowed investigation into the potential relationship between circadian system pathologies and those present in channelopathies.
Dr. Ptáček received his MD from the University of Wisconsin, Madison, in 1986, and completed his residency in neurology at the University of Utah in 1990. Afterward, he performed postdoctoral studies in human genetics at the University of Utah. Dr. Ptáček currently holds the John C. Coleman Distinguished Professorship in the Department of Neurology at the University of California, San Francisco, where he is also Director of the Neurogenetics Program. He has been a Howard Hughes Medical Institute Investigator since 1997.
Dr. Ptáček was elected to the ASCI in 2000, to the Institute of Medicine in 2007, to the Association of American Physicians in 2009, and to the National Academy of Sciences in 2012.
Louis Ptáček receives the 2015 ASCI/Stanley J. Korsmeyer Award in the Journal of Clinical Investigation