My research focuses on the molecular mechanisms that are responsible for pathogenesis in the CAG trinucleotide repeat diseases. Eight inherited neurodegenerative diseases are known to be caused by expansion of the CAG repeat and all are characterized by expression of an expanded polyglutamine domain in the disease protein. The major interest of my laboratory is characterizing cellular processes leading to pathogenesis of the polyglutamine repeat diseases and developing new therapies.
Current work focuses on the role of mitochondria in pathogenesis and the role played by cellular stress responses. We have also identified a peptide that blocks pathogenesis in cell culture and fly models of disease and will be studying the effect of these peptides in mice.
We are also working on developing therapies for Parkinson's disease by identifying peptide inhibitors of alpha synuclein aggregation.
My area of expertise is neurodegenerative diseases and dementia with an emphasis on the CAG trinucleotide repeat diseases (Huntington's disease, dentatorubral-pallidoluysian atrophy (DRPLA), Haw River Syndrome; spinocerebellar ataxia type 1, 2, 3 (Machado-Joseph disease), 6 and 7) and Alzheimer's disease.