April 28th, 2016 by Melissa Chaikof | | Comments Off on Letter to Our Donors
I want to thank you for your prior 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.
We now have two top Usher Syndrome researchers working toward 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 $175,000 in Dr. Westerfield’s work and are pleased and excited to announce that his work is proceeding successfully and on schedule. He has already developed a zebrafish with the fish version of the Usher 1F mutation that is exhibiting both deafness and retinal deterioration. He is now working on inserting 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 also the other large Usher Syndrome genes. 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.
While our immediate work is about a cure for Usher 1F, we have recently learned that the implications extend well beyond Usher 1F. Researchers have targeted the eye as one of the first areas of the body for which to develop gene therapy because it is readily accessible and because it is behind the blood brain barrier, making an immune response less likely. Once successful, though, the gene therapies can be adapted to cure other diseases also caused by a single genetic mutation, such as hemophilia, cystic fibrosis, and sickle-cell anemia.
We could not have accomplished these significant hallmarks in such a short time without your support. You helped us to take a crucial but essential risk, and we are on a clear path toward our goal with a clinical trial possible in single digit years. Thus, a cure is no longer a distant dream but, instead, an attainable reality. I write to strongly encourage you to continue to share our story and early success with your friends and family. Additionally, I ask you to consider another gift to keep momentum strong and to energize and support the work of our two gifted and dedicated researchers.
A very sincere thank you for your critical support and your faith in the dream to ensure that no child need fear a future of blindness but can, instead, realize his or her dreams. Thank you for helping us break new molds, contribute to science, and demonstrate for our children the impact we can have on their future. Thank you from my daughter Rachel, a gifted photographer who wants to continue to travel and photograph our beautiful world with her ever present camera, from my daughter Jessica, who needs her vision in order to pursue an advanced degree in chemistry and already needs an aide to read fine print, from 16-year-old Brendan, who wants to be a research scientist and learn to drive, and from 4-year-old Zachary, whose big blue eyes and wide grin are still unaware of what he stands to lose from Usher 1F.
Melissa K. Chaikof
President, Usher 1F Collaborative