Combining modeling approaches for rapid preclinical evaluation of retinal gene therapy

The pathway to developing genetic treatments for rare, monogenic ocular disorders has historically been impeded by limited options in preclinical testing pipelines. In this issue of Molecular Therapy Advances, Dr. Aman George and colleagues navigate this challenge by presenting a proof-of-principle investigation of an adeno-associated virus (AAV)-based gene therapy strategy for oculocutaneous albinism type 1A (OCA1A).1 Building on prior work2 using a constitutive promoter, their approach delivers a human TYROSINASE (TYR) transgene under the stringent transcriptional control of a human BESTROPHIN (VMD2) promoter to restore melanin synthesis.