Development and Validation of a New Friedreich’s Ataxia Isogenic Control Mouse

Testing new treatments for Friedreich’s ataxia (FA) relies on accurate disease models, such as mice that carry the human mutation causing the condition. Equally important are matched control models that represent a healthy, unaffected state. Together, these paired models allow researchers to determine whether potential therapies are truly effective. Dr. Marek Napierala’s project will use CRISPR/Cas9 “molecular scissors” to remove the disease-causing GAA repeat from an existing FA mouse. This will create a new control mouse that can be directly compared with the FA model. The team will also test a potential treatment, SynTEF1, in both the FA mouse and the new control to ensure its effects are specific to the disease. By generating and studying this new control mouse, the project will provide a crucial tool for preclinical research and help accelerate the development of effective therapies for FA.