Non-coding RNA rescue of PRPF31 Retinitis PigmentosA (RP11): a proof of concept for an innovative effective therapy

The main objective of the project is to evaluate the efficacy of SINEUP non-coding RNA as a therapeutic intervention for Retinitis Pigmentosa 11 (RP11), an autosomal-dominant inherited retinal dystrophy caused by mutations in the PRPF31 gene. The project aims to compare the effectiveness of SINEUP therapy with standard gene therapy approaches in rescuing protein expression and mitigating disease phenotype using a human in vitro model of RP11. Two WP are outlined to achieve this objective: (1) Generation and morphofunctional characterization of RP11 cell models, (2) Testing the efficacy of AAV2-SINEUP-PRPF31 and AAV2-PRPF31 in RP11 in vitro human model.