Characterization of ocular phenotype of the YG8-800 mouse model of FA and retinal-targeted treatment by AAV based CRISPR-Cas9 gene editing

FA patients can experience progressive loss of vision, particularly visual acuity, due to the deterioration of nerve cells of the retina. While many animal models of FA have been generated, most are used to characterize systemic symptoms of FA and a retinal phenotype in these models is either absent or remains uncharacterized. To develop treatments for the vision loss in FA, it is important to identify mouse models where a vison phenotype can be detected. Dr Boye’s lab has deep expertise in characterization of retinal disease and the use of gene therapy for the treatment thereof. With this grant Dr Boye will evaluate retinal structure and function in a mouse model of FA that contains a human FXN gene with a similar number of GAA repeats as the average FA patient (600-900). If this mouse model has an underlying retinal phenotype, Dr Boye will be able to evaluate the therapeutic impact of removing the GAA repeats with gene editing. The overarching goal of this project is to expand the toolkit for studying the retinal manifestations of FA and to advance therapeutic development.