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In my laboratory, we apply 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. Focus areas are as follows:

1) Failure of protein quality control underlies all major neurological disease: Identification of genetic pathways that regulate autophagy and role of mTOR signaling in neuroprotection.
2) Altered gene transcription in neurological disease and retinal degeneration: Unraveling the complexity of CNS gene regulation, including microRNAs and non-coding RNAs.
3) Bioenergetics of neurons: Understanding mitochondria dysfunction in neurological disease, including mitophagy and mitochondrial dynamics.
4) Cross-talk between basic biology of aging and neurological disease pathways.

Track(s):
Genetics
Molecular Pathology