Monday night, at Sam’s Scramble for Sight in Grand Rapids Michigan, the Advisory Board of the Institute for Vision Research announced the creation of an annual “Heart of Our Vision Award” to recognize someone in our organization who has made an extraordinary contribution to the cure of heritable blindness. This year, Dr. Budd Tucker was chosen as the first recipient of the award and was presented with a Fender Telecaster guitar autographed by Bruce Springsteen to commemorate the event.

The pharmaceutical company Spark Therapeutics recently announced FDA approval^1,2 of a gene therapy known as Luxturna, which has been shown to improve vision in patients with an extremely rare inherited eye disease caused by mutations in the gene RPE65. Scientists estimate this disease to occur in less than one in 500,000 people – or about 560 people total in the United States^3,4.

The company has priced the drug at $425,000 per eye ($850,000 per patient), which does not include the cost of the surgery⁵.

A new publication from the laboratory of Val Sheffield, M.D., Ph.D., focuses on the role of a specific protein complex found in photoreceptor cells and its role in retinal degeneration in a blinding disorder known as Bardet-Biedl syndrome (BBS). This protein complex is called the BBSome. Ying Hsu and Janelle Garrison, a graduate student and postdoctoral fellow respectively, who performed much of the work, demonstrated that the BBSome is indispensable for the initial formation and continued maintenance of the outer segment, the light sensing component of photoreceptor cells.

The RPE65 gene therapy study group at the Wynn Institute for Vision Research at the University of Iowa and The Center for Molecular and Children’s Hospital of Philadelphia published a paper in the journal, The Lancet, which showed the safety and effectiveness of voretigene naparvovec (the "new" name of AAV-RPE65 ) in a phase 3 FDA trial. This is an important milestone for gene therapy. As Dr. Stone recently published in the journal Ophthalmology, most inherited retinal degeneration genes will fit into the adeno-associated viral vector tested in this study.