During 2017, we doubled our number of funded research labs, adding two new researchers, Zubair Ahmed, Ph.D., at the University of Maryland, and Livia Carvalho, Ph.D., at the University of Western Australia. Drs. Ahmed and Carvalho join our other funded researchers, Monte Westerfield, Ph.D., University of Oregon Institute of Neuroscience, and Edwin Stone, M.D., Ph.D., Wynn Institute for Vision Research at the University of Iowa. Both of our new researchers have written about their Usher 1F research for this newsletter.
With our four research labs working on a cure for the vision loss of Usher 1F, we are now funding several projects:
Gene replacement therapy – Many have asked if the Spark Therapeutics gene therapy, which received much coverage in the news recently when an FDA panel unanimously recommended it for approval, is applicable to Usher 1F. The answer is yes and no. We are working on gene replacement for Usher 1F, but we have to develop a delivery method that will work for the large Usher 1F gene so that we can realize the same success as Spark. We currently have three research projects to address this:
1. Split our large Usher 1F gene into two pieces, delivering both and then having the pieces reassemble in the eye.
2. Abbreviate our gene so that it will fit on the current virus vectors, keeping the pieces essential for vision.
3. Develop a new virus vector that will hold our entire gene.
Drug therapies – Using our mouse and fish models, test several compounds that will cause the genetic mutation that causes Usher 1F to be ignored.
Stem cell therapy – Create new retinal photoreceptors using stem cells made from patients’ own skin cells. This therapy holds the potential to reverse degeneration that has already occurred.
On the horizon for 2018 will be research to see if a groundbreaking gene editing technique developed by David Liu, Ph.D., of Harvard, will be applicable to Usher 1F. Dr. Liu describes this technology as similar to taking a pencil eraser and erasing the mutation and writing in the correct genetic sequence. Jennifer Phillips, Ph.D., in Dr. Westerfield’s lab has already told us that they have ordered the reagents and are excited to begin testing the applicability of Dr. Liu’s work for Usher 1F.
Our board and Usher 1F Collaborative families continue to work hard to raise funds to ensure that our critical and exciting work continues. During 2017, nine fundraising events brought in a total of almost $150,000, and we still have one more to go. These events have included smaller efforts of generous families asking for donations instead of birthday presents, bar and bat mitzvah projects, bake sales, race sponsorships, a game based on The Bachelor TV show, a children’s music recital, a golf tournament, and, finally Sight.Sound.Cycle, which is profiled in this newsletter. We welcome any effort, large or small, to help us in our race against time to find a cure to save the vision of those with Usher 1F.