DEVELOPMENT OF PHARMACOLOGICAL CHAPERONE FOR FUNCTIONAL RESCUE OF GalphaO MUTATIONS INVOLVED IN ENCEPHALOPATHY AND MOVEMENT DISORDERS.

Awardee: Patrick M. Giguère

Institution: University of Ottawa

Grant Amount: $100,000

Funding Period: September 1, 2025 - August 31, 2026

Summary: Employing machine learning, computational modeling, and biochemical assays, this study focuses on identifying small-molecule chaperones to stabilize and restore mutant Gao protein function, offering a promising disease-modifying treatment for movement disorders and epilepsy.

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Evaluation of a therapeutic potential of disulfiram for its repositioning against encephalopathies caused by GNAO1 mutations

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Pilot clinical trial to assess efficacy of Caffeine Citrate for controlling GNAO1-related dyskinetic crises