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Foundation Invests $2.4 Million in Eight New Sight-Saving Research Projects

August 6, 2012 – Innovations in gene therapies for Usher syndrome and retinitis pigmentosa, the development of Leber congenital amaurosis (LCA) treatments and the advancement of cell transplantation for age-related macular degeneration (AMD) are among the eight new research projects being funded this year by the Foundation Fighting Blindness. Each investigative team will receive $300,000 for its three-year research efforts.

The projects were selected through a rigorous review process conducted by the Foundation’s Scientific Advisory Board (SAB) which culminated with a two-day meeting prior to the annual VISIONS conference in late June. A total of 35 proposals were reviewed.

One selected project is the development of a nanoparticle-based gene therapy for Usher syndrome type 2A (USH2A). While human-engineered viruses, including adeno-associated viruses (AAVs), have worked well in delivering therapeutic genes to retinal cells in clinical trials, they aren’t able to deliver large genes, such as USH2A. Nanoparticles appear to have no capacity limitations.

Dr. Muna Naash, of the Oklahoma University Health Sciences Center, will lead the USH2A gene therapy development effort, which could facilitate the advancement of delivery systems for other large genes that cause retinitis pigmentosa and related conditions.

Also in the gene therapy arena, Dr. Shannon Boye, of the University of Florida, an expert in AAV development, will receive funds to find safer and more effective ways to administer retinal gene therapies. In current clinical trials, gene therapies are often injected underneath the retina. While they work relatively well, they do cause temporary retinal detachments and, at the same time, do not always deliver genes to the central retina effectively.

Dr. Boye is working on gene therapy administration through the vitreous to the front of the retina. This approach does not cause retinal detachment and may do a better job getting corrective genes to the central retina.

On the AMD front, award recipients include: Dr. Johanna Seddon, of the Tufts Medical Center, who will define new variants in genes that cause dry AMD; Dr. Don Zack, of Johns Hopkins University Hospital, who will identify proteins in blood that can indicate dry AMD risk; and Dr. Ted Smith, of Columbia University, a clinical researcher working to understand a severe form of AMD known as reticular macular disease.

One of the big challenges in transplanting therapeutic cells to the retina is getting them to survive, integrate and become functional, especially when the patient’s retina is compromised by disease or age. The Foundation is funding Dr. Marco Zarbin, of the University of Medicine and Dentistry, New Jersey, so that he can continue his development of a mixture of biological molecules that will foster survival of cells transplanted into a retina affected by AMD.

Two new projects are focused on finding treatments for the most common type of Leber congenital amaurosis (LCA), a severe form of retinitis pigmentosa that causes blindness or severe vision loss at birth. Dr. Rob Collin, Radboud University in the Netherlands, and Dr. Hemant Khanna, University of Massachusetts Medical School, are both developing therapies for LCA caused by defects in the gene CEP290.

“These eight new awards will provide strong momentum for moving treatments forward. And, we’re supporting an outstanding cadre of scientists,” says Dr. Stephen Rose, chief research officer, Foundation Fighting Blindness. “Unfortunately, at the same time, because of funding limitations, we had to leave a lot of great research on the table. But the Foundation’s science department is poised to quickly fund additional awards should we exceed our fundraising expectations during the year.” 


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