Can we prevent vision loss in FA with gene therapy?
Vision loss in Friedreich’s ataxia (FA) is often an under-appreciated symptom, but it can significantly impact quality of life. Vision loss can be largely attributed to degeneration of a special cell type in the retina of the eye called the Retinal Gangion Cell (RGC).
We are pleased to award a grant to Dr. Shannon Boye at the University of Florida. Dr. Boye’s lab has developed a mouse model of vision loss in FA by knocking out frataxin expression in RGCs. Her lab will work to develop an AAV-gene therapy that delivers frataxin to the eye via a direct injection. They will test the ability of this gene therapy to prevent vision loss in their FA mouse model. They will also use the mouse model data to optimize the gene therapy for safety and efficiency. In addition to gene therapy, this mouse model has the potential to be useful in the development of other therapies that address vision loss in FA.