Research Summary:

Our work has focused on a subset of neurodegenerative disorders caused by microsatellite repeat expansion, with the hypothesis that highly structured microsatellite repeat RNAs confer localization and perturb mRNA transport granule function in disease. Our studies revealed that various expanded repeat RNAs, including GGGGCC associated with ALS/FTD (C9orf72), are present and trafficked along neurites in cultured primary rat spinal cord neurons, and also occur as discrete neuritic granules in neurons differentiated from patient derived iPSCs. Modeling in cultured neurons and in Drosophila larval sensory neurons indicated that the expanded repeat RNAs confer dendritic branching defects by acting locally, in neurites. In the laboratory we take biochemical, cell biological and genetic approaches to explore transport granule dysfunction as a novel mechanism by which microsatellite expansion contributes to neurodegenerative disease.

Education and Training:

PhD: Stanford University, Biochemistry, 2006