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A significant number of adult-onset neurological diseases, including Alzheimer’s, Parkinson’s and Huntington’s disease are characterized by the aberrant and toxic accumulation of proteins in affected neurons. Our group relies on the use of model systems to test novel gene-based therapies that prevent, halt or reverse these “proteinopathies”. In particular, we develop Adeno-Associated virus-based gene therapies to suppress the expression of these proteins in affected neurons. Recently, using models of spinocerebellar ataxias, we have demonstrated that suppressing the expression of toxic proteins, even after disease onset, can lead to significant recovery of neuronal function and halt the progression of pathology. A new exciting area of gene therapy research in our group focuses on the development of “gene-editing” tools that can be used to modify inherited mutations in adult neurons.
A second major focus of our laboratory is on understanding how disruptions in the interactions between RNA and proteins can mediate neurological disease. Mutations that affect the function of RNA-binding proteins and/or the production, trafficking and stability of RNA molecules can lead to neurodegenerative diseases such as Amyotropic Lateral Sclerosis (ALS). We have developed a novel approach that allows us to investigate how these disease-causing mutations affect RNA function in specific populations of neurons within the central nervous system (i.e. spinal cord neurons Vs. cortical neurons). This cell-type specific approach is designed to yield therapeutic targets directly linked to disease mechanisms, paving the way for the rational design of more effective molecular therapies.
Tissues culture cells, animal models, human patient-derived cellular models. Adult and childhood onset neurogenetic diseases including nucleotide repeat diseases such as Spinocerebellar ataxias, Huntington’s disease, etc.
Characterization and use of animal models for neurodegenerative disease research, AAV vector design and production, gene therapy approaches for neurogenetic disorders, gene silencing, gene editing and analysis of gene expression.
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