Our laboratory applies the tools of molecular genetics, neuroscience, and functional genomics to understand mechanisms of neurodegenerative disease. My research program is focused upon human genetic diseases caused by expansions of trinucleotide repeats, including Huntington’s disease, spinobulbar muscular atrophy, and spinocerebellar ataxia type 7. We have found that transcription dysregulation and activation of apoptosis / autophagy are important in neurological disease. We have learned that protease function and proteolytic cleavage regulate key events in pathogenesis. Our goal is to define molecular and cellular pathways by which neurons become dysfunctional and use this knowledge to devise rational therapies.
Research Focus Areas:
Genetics and Genomics | Gene Expression and Regulation | Neurodevelopment and Neurodegenerative Disease