Louis J. Ptacek,
Professor, Department of
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.