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Retinal disease research gets $2.4 million boost

The Foundation Fighting Blindness is funding projects related to age-related macular degeneration, retinitis pigmentosa, Leber's congenital amaurosis, and Usher syndrome.

Columbia, MD-Retinal degenerative disease causes and treatments will be explored through eight research projects receiving a total of $2.4 million from the Foundation Fighting Blindness (FFB).

Those with conditions such as age-related macular degeneration (AMD), retinitis pigmentosa (RP), Leber’s congenital amaurosis (LCA), and Usher syndrome, among others, are expected to benefit from the funding. The spectrum of work ranges from gene therapies to cell transplantation to understanding AMD risk to developing new therapies for an inherited condition that causes blindness at birth.

The projects receiving funding were selected from 35 proposals reviewed by the FFB scientific advisory board. Each of the eight investigative teams will receive $300,000 for its 3-year research efforts.

“These eight grants are going to a truly outstanding cadre of scientists,” said Stephen Rose, PhD, chief research officer of the FFB. “The funding will help investigate several approaches to saving sight and provides strong momentum for moving treatments forward, out of the lab and into the clinic.”

Muna Naash, PhD, of the Oklahoma University Health Sciences Center, Oklahoma City, will focus on the development of a nanoparticle-based gene therapy for Usher syndrome type 2A, or USH2A. This effort could facilitate the advancement of delivery systems for other large genes that cause RP and related conditions.

Shannon Boye, PhD, of the University of Florida, Gainesville, is working on a gene therapy delivery system that can be used to deliver therapeutic genes through the vitreous to the front of the retina instead of underneath it. Her new approach may be safer for the retina and enable gene therapies to reach cones more effectively.

Johanna Seddon, MD, ScM, of Tufts Medical Center, Boston, aims to define new variants in genes that put people at risk for the dry form of AMD. By identifying disease-causing genes, she could provide the research community with clear targets for treatments and cures.

Donald Zack, MD, PhD, of Johns Hopkins University School of Medicine, Baltimore, is trying to pinpoint biomarkers-proteins or molecules-in the blood that can help identify who is at risk for AMD. Through his research, a simple blood test might someday be developed to determine whether a person is likely to be affected by this condition.

Ted Smith, MD, PhD, of Columbia University, New York City, will be analyzing the genetic and physical characteristics of reticular macular degeneration, a distinct form of AMD that puts people at high risk for vision loss. His research may help physicians identify these high-risk individuals as well as potential treatments.

Marco Zarbin, MD, PhD, of the University of Medicine and Dentistry, New Jersey, in Newark will be developing and analyzing a mixture of biological molecules that helps transplanted retinal cells integrate and survive in the eyes of people affected by AMD.

Rob Collin, PhD, of Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, is developing a gene correction treatment for people with the most common type of LCA, caused by defects in the gene CEP290.

Hemant Khanna, PhD, of the University of Massachusetts Medical School, Worcester, also is focusing on LCA caused by defects in the gene CEP290. He will be investigating causes of the disease and potential treatments for preventing or reversing vision loss.

For more articles in this issue of Ophthalmology Times eReport, click here.

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