Award
National Institute of Neurological Disorders and Stroke 5R01NS135254-03
Alternative Splicing and Development of Small Molecule Therapeutics in CAG Expansion Spinocerebellar Ataxias
Recipient
State University of New York at Albany, Albany, NY
Award Amount
$570,215.00
Ceiling
$570,215.00
Awarded
December 30, 2025
Identifier
5R01NS135254-03
This NIH-funded project aims to develop small molecule therapeutics targeting CAG expansions in spinocerebellar ataxias by studying alternative splicing and transcriptome disruptions, with goals to identify therapeutic compounds, characterize gene expression changes, and develop biomarkers for disease progression and treatment response.
Description
The project focuses on the study of spinocerebellar ataxias (SCAs), a group of rare neurological disorders characterized by lack of balance and coordination. The research aims to explore disruptions to the transcriptome, including alternative splicing, as potential hallmarks of SCAs. The central hypothesis is that targeting CAG expansions with small molecules can provide therapeutic efficacy across multiple SCAs. The study involves generating reporter cell lines, identifying small molecules that reduce CAG transcripts, and investigating alternative splicing dysregulation as a molecular feature and therapeutic target.