Synaptic Function

Niemann Pick Type C Disease

Parkinson's Disease

Polyglutamine Disease

Neurodegenerative disorders constitute a major challenge of modern medicine. Although these disorders are common and often highly debilitating, the mechanisms responsible for their pathologies are poorly understood, and there are currently no effective preventative therapies. My laboratory has used two complementary approaches to address these matters. One approach has been to use classical genetic approaches in the fruit fly Drosophila melanogaster to study the normal development and function of the nervous system. Specifically, we have been studying the molecular mechanisms by which neurons form synapses and communicate with one another through the regulated release of chemical neurotransmitters. The premise of this work is that knowledge of the normal development and function of the nervous system will be a prerequisite to a complete understanding of the mechanisms by which neurons become dysfunctional and die in disease states. In more recent work, that now represents the major focus of my laboratory, we have been using genetic, genomic, and proteomic methods in Drosophila to explore the biological functions of genes implicated in heritable forms of several neurodegenerative diseases. Specifically, we have been studying genes involved in Parkinson’s disease (PD) and the lipid storage pediatric neurodegerative disorder, Niemann Pick Type C disease (NPCD). The long-term goals of this work are to define the genetic pathways responsible for pathology in these disorders. Given the extensive evolutionary conservation of genetic pathways in eukaryotes, we anticipate that knowledge obtained in these studies involving Drosophila will have broad biological and medical significance.


Department of Genome Sciences - Box 355065
University of Washington
Seattle, Washington 98195
(206) 616-5997