Seminar – Victor Faundez, MD, PhD – “Neurobiology Discovery through Systems Biology of a Rare Genetic Disorder, Rett Syndrome”

Victor Faundez, MD, PhD Emory University Profile About the Speaker: Dr. Victor Faundez, MD, PhD, is a Professor and Vice Chair of the department of Cell Biology at Emory University. He earned his MD and PhD from Catholic University in Santiago, Chile. He is interested in understanding complex neurological disorders using cell biology, mouse and Drosophila genetic, and systems biology tools. His lab focuses on microdeletion and the Rett syndromes, genetic defects of human copper transporters, and mitochondrial transporters. All these genetic defects cause neurodevelopmental and neurodegenerative phenotypes in humans. He has a particular interest on understanding how diverse pathways and organelles interact to specify synapse development and function. His laboratory studies AP-3 and BLOC-1-dependent trafficking mechanisms. These mechanisms target synaptic vesicle membrane proteins from endosomes to the synapse. They postulate that the AP-3-BLOC-1 pathway contributes to the pathogenesis of schizophrenia. Genetics studies have identified the gene encoding dysbindin (DTNBP1), a BLOC-1 subunit, as a top-ranking disease susceptibility gene. [uw-reusable-content id=’27295′]