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Canadian Scientists Show “Proof of Principle” for LCA 12 Gene Therapy

June 11, 2013 – Research led by Dr. Robert Molday at the University of British Columbia has shown that gene therapy designed to target the RD3 gene can protect light-sensing photoreceptors and restore visual function in mice. In humans, mutations in the RD3 gene interfere with the production of an essential protein in the eye and cause Leber congenital amaurosis type 12.  This research was made possible thanks to funding from the Foundation Fighting Blindness and the Canadian Institutes of Health Research.

Leber congenital amaurosis (LCA) is a genetic condition that causes severe loss of vision at birth or early in childhood. Eighteen genes which cause LCA have now been identified. By studying these genes, Dr. Molday and other scientists have begun to develop therapies that can slow vision loss and even restore some sight.

In this research, Dr. Molday and his colleagues uses a virus called AAV8 to carry a new RD3 gene into the photoreceptor of mice born without the RD3 gene. (To learn more about this process, see our short video on gene therapy.) They showed that the new gene could function inside the photoreceptor, preventing cell death and restoring visual function to both rod and cone photoreceptors in mice with some types of RD3 mutations.  This type of gene replacement therapy has already been adapted to deliver another gene associated with LCA2; human trials of that therapy are ongoing. For more detailed information, see our gene therapy fact sheet.

Dr. Molday currently leads a team of scientists funded by the Foundation Fighting Blindness and the Canadian Institutes of Health Research working to develop gene therapies for inherited retinal degenerative diseases.

This research was published in Human Molecular Genetics, June 4, 2013.

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