Grant 43

Research Institution: University of Melbourne

Principle Investigator:

Associate Professor Paul Gregorevic

Type: Melbourne, Australia

Project title: “Testing novel therapeutic strategies to combat the metabolic disturbances underlying the muscle pathology of FSHD”

Status: Active


Our research seeks to expand our understanding of the mechanisms that lead to the development of skeletal muscle degeneration in FSHD, and to test multiple interventions that we propose could be used to prevent and/or limit disease progression. Combining our expertise in skeletal muscle biology and gene therapies, we have developed new animal-based and human-cell-based models of FSHD. Here, we will use these models to demonstrate that skeletal muscle from individuals with FSHD uses fats and carbohydrates differently to healthy individuals and that this is critical for the progression of disease pathology. We believe the strategies outlined in our proposal to manipulate these vital pathways are viable approaches that could rapidly be deployed to improve outcomes for individuals with FSHD.