Development of gene therapy for a severe form of inherited retinal degeneration due to defects in AIPL1

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Leber‘s Congenital Amaurosis (LCA) is a term used to decribe a heterogeneous group of inherited retinal degenerations that affect children. One form is cause by mutations in a gene called AIPL1 that is expressed in photoreceptors. The retinal disease associated with AIPL1 mutations is progressive and affected children have severe visual impairment when they reach school age. There is currently no effective treatment. The aim of this research project is to use a mouse model of this condition to develop an effective gene therapy protocol that would be applicable to man. By introducing a normal copy of the defective AIPL1 gene we hope to delay or halt the death of photoreceptors and preserve vision. In order to do this we will engineer viral vectors to carry normal copies of the gene to the photoreceptor cells and injecting these into the mouse eye. We shall investigate the factors influencing the efficiency of the gene delivery and assess the outcome by examining the structure of the retina and performing electrical tests of visual function. This project will help us to optimise ocular gene therapy protocols and should facilitate the development of clinical trials. We shall also identify and characterise patients that might benefit from treatment.