Human Genetics and Systems Neuroscience: Genes and Molecules to Human Sleep Behaviors
The Academic Senate is pleased to announce the selection of Ying-Hui Fu, PhD, and Louis J. Ptáček, MD, as the joint recipients of the 55th
Faculty Research Lecture (Basic Science). Together Drs. Fu and Ptáček research human genetics to understand the molecular underpinnings of mammalian physiology and disease. They will be lecturing on “Human Genetics and Systems Neuroscience: Genes and Molecules to Human Sleep Behavior”.
The Academic Senate Faculty Research Lecture will be held in Rock Hall at the Mission Bay Campus on Wednesday, February 15, 2012, at 3:30 p.m. The event will also be “live feed” for viewing from your office or compputer.
Together, Drs. Fu and Ptáček described the first Mendelian circadian rhythm variant of humans, familial advanced sleep phase syndrome (FASPS). Their subsequent work in families showed that some natural short sleepers segregate an allele. These combined findings have proved monumental in the field of human behavioral genetics and remain the only isolated human behavioral variant that has ever been characterized at a molecular level.
Drs. Fu and Ptáček work on mutations affecting potassium channel function has elucidated the molecular basis of paralytic and cardiac malfunctions in Andersen-Tawil Syndrome while providing interesting insights into structure-function relationships that regulate inwardly rectifying and voltage-gated channels. This work is characterized by a comprehensive treatment that spans the gamut from clinical phenotype to biophysical analysis.
Independently, both researchers have made scientific advances:
Dr. Fu identified genes responsible for fragile X mental retardation, myotonic dystrophy, Werner’s syndrome, autosomal dominant Alzheimer’s disease, and late-life leukodystrophy. Her work in fragile X mental retardation and myotonic dystrophy also solved the question of the molecular basis of anticipation, a phenomenon that was well recognized clinically but not understood at a molecular level.
Dr. Ptáček cloned the genes for a large number of hereditary neurological diseases and discovered mutations responsible for a number of hereditary and neuromuscular diseases, including hyperkalemic periodic paralysis, paramyotonia congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis. This work led to the first successful double blind control trial in the periodic paralyses.
Dr. Fu received a B.Sc. from National Chung-Hsing University in Taiwan, a Ph.D. from Ohio State University, where she also did postdoctoral work in Molecular Biology. She continued her postdoctoral research in Human Genetics at Baylor College of Medicine. Prior to joining UCSF, Dr. Fu worked in the private sector at both Millennium Pharmaceutical Inc. and Darwin Molecular Corporation. She was a Research Associate Professor at University of Utah, Salt Lake City and joined UCSF in 2002 as an Associate Professor. Currently, she is a Professor In Residence in the Neurology Department and a Member of both the Institute for Human Genetics and the Institute for Neurodegenerative Diseases.
Dr. Ptáček received his B.Sc. and M.D. from University of Wisconsin, Madison. He interned in Primary Care at University of Washington and did both his Neurology residency and Muscular Dystrophy Association Neuromuscular Fellowship at University of Utah, Salt Lake City. He also did his postdoctoral work in Molecular Biology in the Department of Human Genetics at the University of Utah, Salt Lake City. He was formerly the Director, Division of Neurogenetics, Department of Neurology, University of Utah, Salt Lake City. Dr. Ptáček joined UCSF in 2003 as both an Investigator at the Howard Hughes Medical Institute and the John C. Coleman Distinguished Professor of Neurology and Director, Division of Neurogenetics.
Again, the Academic Senate Faculty Research Lecture will be held in Rock Hall at the Mission Bay Campus on Wednesday, February 15, 2012, at 3:30 p.m. The event will also be “live feed
” for viewing from your office or computer. For those unable to view at the time of the event, it will be recorded and made available as a Podcast@UCSF
A reception will follow outside of Rock Hall the day of the event.