Creation of a human RPGR mini promoter for retinitis pigmentosa gene therapy

The retinitis pigmentosa GTPase regulator (RPGR) gene is the principal single cause of retinitis pigmentosa (RP). Recent gene therapy studies in the RPGR dog models showed that there was a dramatic preservation of retinal structure. Although the therapy was successful, the therapeutic gene used was regulated by a non-specific rather than gene-specific promoter. For rapid clinical translation it would be preferable that the human RPGR gene to be used in therapy is regulated by the specific RPGR promoter. In this project, we plan to create and characterise a mini RPGR promoter for human RP gene therapy.