Defining APBD pre-clinical biomarkers and assessing a therapy in an APBD mouse model.
Awardee: Matthew Gentry
Institution: University of Florida
Grant Amount: $49,677.00
Funding Period: February 1, 2023 - January 31, 2024
Summary:
Glycogen is a key energy storage macromolecule in cells. However, the accumulation of aberrant glycogen in the brain drives devastating diseases like Lafora disease (LD) and Adult Polyglucosan Body Disease (APBD). The Gentry laboratory has >15 years of experience defining disease mechanisms for LD and developing pre-clinical therapies and biomarkers that are being translated into the clinic. The Akman laboratory has >15 years of experience defining disease mechanisms for APBD and developing pre-clinical therapies. In this proposal, they will combine efforts to: 1) define the brain metabolic perturbations in an APBD mouse model to identify APBD biomarkers and 2) assess an enzyme therapy as a pre-clinical APBD treatment in the same mouse model. This project brings together two laboratories with non-overlapping expertise in studying glycogen storage diseases to tackle critical questions for the APBD community.