Gene replacement therapy in Pde6B and Aipl1 murine mutants

Leader of the WP is Robin Ali from University College London (London, UK).

The overall goal of WP2 is to test the efficacy of state-of-the-art AAV-mediated photoreceptor gene transfer in animal models of Pde6B and Aipl1 deficiencies as well as providing proof-of-principle of gene replacement therapy for severe photoreceptor diseases due to PDE6B and AIPL1 mutations.

Recombinant AAV has been shown to facilitate the successful transfer of genes into the cells of the retina. We have recently shown that gene transfer to the photoreceptor cells is substantially more efficient using AAV2/8. Building on this data and on the work from WP1, we will develop a treatment strategy for the animal models of retinal degeneration due to mutations in the Pde6b and the Aipl1 genes, using AAV2/8 carrying these genes under control of a suitable promoter.