2011 Finalist

Aaron D. Gitler, Ph.D.
Assistant Professor
Department of Cell and Developmental Biology
Perelman School of Medicine at the University of Pennsylvania

Aaron Gitler is an assistant professor in the Department of Cell and evelopmental Biology at the University of Pennsylvania School of Medicine. Dr. Gitler received his Ph.D. in cell and molecular biology from the University of Pennsylvania working with Jonathan Epstein on endothelial cell signaling pathways in cardiovascular development. In postdoctoral research with Susan Lindquist, at the Whitehead Institute for Biomedical Research, he performed high-throughput genetic screens in yeast for modifiers of toxicity associated with the Parkinson’s disease protein alpha-synuclein. His group at the University of Pennsylvania is combining yeast and human genetics to elucidate novel pathways involved in neurodegenerative disease, focusing on the role of RNA-binding proteins in the motor neuron disease ALS.

New Insights into Human Neurodegenerative Diseases

The goal of my laboratory is to elucidate the mechanisms of human neurodegenerative diseases by defining critical genes and cellular pathways affected by aggregationprone human disease proteins. We are harnessing the budding yeast as a model system to study mechanisms underpinning protein-misfolding diseases. Our approach has been to construct yeast models to study human neurodegenerative disease proteins and to perform highthroughput genome-wide screens for modifiers of toxicity. We have focused on the amyotrophic lateral sclerosis (ALS) disease protein TDP-43 and discovered several potent modifiers of TDP-43 aggregation and toxicity. We have begun to extend these findings to human disease, discovering that mutations in ataxin 2, the human homolog of one of the yeast TDP-43 toxicity modifier genes, are associated with increased risk for ALS in humans. These findings show the power of simple experimental model systems for providing completely new insight into mechanisms of complicated human diseases.

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