Genzyme is entering the fields of ophthalmology and gene therapy. Today, the company announced they are providing $900,000 in funding to Dr Shannon Boye, assistant professor of ophthalmology at the University of Florida, to investigate a possible gene therapy for Leber congenital amaurosis type 1 (LCA-1), a disease that causes childhood blindness.
LCA-1 is a genetic disorder that primarily affects the retina. Most people with LCA-1 have severe visual impairment beginning in infancy. There as many as 14 gene mutations that can lead to LCA-1, with the most common mutations occurring on the CEP290, CRB1, GUCY2D, and RPE65 genes.
Dr Boye’s research will focus on guanylate cyclase (GUCY2D). TheGUCY2D gene normally makes GC1, a protein expressed in photoreceptors. Foundation Fighting Blindness also provides support for Dr Boye’s research.
Dr Boye’s lab has demonstrated the ability to restore retinal function and visually-guided behavior and preserve retinal structure in several animal models of LCA-1. They are hoping to develop a clinical-grade adeno associated viral (AAV) vector with which to perform safety studies and eventually apply it to patients. This gene therapy will involve inserting a healthy copy of the GUCY2D gene into an AAV vector which will then be injected into the retina with the goal of treating the disease with a single treatment.
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