Alternative Splicing and Development of Small Molecule Therapeutics in CAG Expansion Spinocerebellar Ataxias
Description: Project Narrative The spinocerebellar ataxias (SCAs) are a large group of rare neurological disorders characterized by lack of balance and coordination that causes clumsy voluntary movements. Our preliminary data and lessons learned from other repeat expansion disease suggest disruptions to the transcriptome, including to alternative splicing, may be a novel hallmark of SCAs, which would have important implications for tracking disease and developing therapies. Here we will test if targeting the repeat expansion mutation that underlies many of these SCAs will provide therapeutic potential across multiple diseases and whether cross-disease therapeutic efficacy can be quantified by measuring changes in alternative splicing.
Funding type: research
Funder scheme: R01
Start date: 2023-12-01
End date: 2028-11-30
Investigator: ANDREW BERGLUND (lead)
Institutions: State University of New York, University at Albany, State University of New York, STATE UNIVERSITY OF NEW YORK AT ALBANY
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Funded outputs count: 15
Funder award ID: R01NS135254
OpenAlex ID: G9000899217