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PEX1 is a new gene therapy approach to help patients with a devastating orphan disease. Retinal degeneration leading to blindness is a major, untreatable feature of Peroxisome Biogenesis Disorders in the Zellweger spectrum (PBD-ZSD). In fact, visual improvement is a critical symptomatic target that can substantially improve quality of life of patients.

This program is focused on developing an intraocular gene replacement therapy to treat blindness in patients with PBD-ZSD, a group of autosomal recessive disorders caused by mutations in any of the 13 PEX genes whose protein products are required for peroxisome assembly and function. Internationally recognized for her work in peroxisomal diseases, Dr. Nancy Braverman from the RI-MUHC, in collaboration with Jean Bennett of the University of Pennsylvania and Dr. Joe Hacia from the University of Southern California, has developed a new gene therapy with the potential to become first-in-class for both blindness prevention and vision improvement. The gene augmentation therapy is targeting retinal photoreceptor cells of patients with PEX1 mutations in order to increase normal protein levels and recover peroxisome functions.