I want to thank you for your generous support of Usher 1F Collaborative and provide you with an update on our exciting progress. As you know, when we began our efforts, despite significant research for other types of Usher Syndrome, Usher 1F was largely neglected. Over the past two years, we have succeeded in turning the tide, providing $276,000 in funding to two top Usher Syndrome researchers. We could not have accomplished these critical hallmarks in such a short time without your support. You helped us take a critical but essential risk, and we are on a clear path toward our goal, with a clinical trial possibly only single digit years away. Thus, a cure is no longer a distant dream but, instead, an attainable reality. Please help us continue to fund the work of our amazing researchers and to make the dream a reality with your continued support.
We now have two top Usher Syndrome researchers working towards a cure for Usher Syndrome type 1F. We first set out to tackle our need for an animal model. We engaged Monte Westerfield, Ph.D., at the University of Oregon Institute of Neuroscience and Director of the Zebrafish International Resource Center. He presented us with a comprehensive plan to develop a zebrafish model of the Usher 1F mutation and then to use the fish to develop and test a type of gene therapy that has been showing great promise for other types of Usher Syndrome. To date, we have invested $176,000 in Dr. Westerfield’s work and are pleased and excited to announce that his work is proceeding successfully. He has already developed a zebrafish with the fish version of the Usher 1F mutation that is exhibiting both deafness and retinal deterioration, a first for an animal model. He has now begun work to insert the human version of the Usher 1F mutation into the fish.
Our second funded researcher is Edwin Stone, M.D., Ph.D., at the University of Iowa Wynn Institute for Vision Research. Dr. Stone is working on both gene replacement therapy and stem cell therapy, using retinal cells derived from patients’ own skin cells, for many types of retinitis pigmentosa, including Usher 1F, to both halt further deterioration of vision and restore vision already lost. The Usher 1F gene is a very large one, and the hurdle we faced was that our gene would not fit on a virus vector, which is the delivery system used in gene replacement therapy. Dr. Stone has been determined to find a virus vector that would hold not only our large Usher 1F gene, but the other large Usher Syndrome genes as well. He recently succeeded in identifying two such virus vectors, and, gene replacement therapy is now possible not only for those with Usher 1F but also for the other 92% of those with Usher Syndrome unable to utilize the earlier virus vectors. Usher 1F Collaborative has provided Dr. Stone with $100,000 to help prove safety and efficacy of his new virus vectors.