Currently, there is no cure for Usher Syndrome. While cochlear implants have greatly ameliorated the most major impacts of deafness for those that receive them as babies, there is no cure for blindness. Those that receive early identification are supported through educational programs so they can learn to adapt and manage their disease. In a world where we are on the precipice of major technological advances in all phases of medicine, that simply isn’t good enough. Targeted research is needed to be able to find a cure. Currently, Usher 1F Collaborative is funding two researchers working toward this goal.
University of Iowa, Wynn Institute for Vision Research
Edwin Stone, M.D., Ph.D., who is working to develop a cure for Usher 1F along with other types of retinitis pigmentosa at his lab at the University of Iowa, is working to halt further retinal degeneration from Usher 1F through gene replacement therapy and to repair damage that has already occurred through replacement of damaged retinal photoreceptor cells with new cells made from the patient’s own skin cells. This will, in turn, enable clinical trials to be possible once safety and efficacy are determined.
University of Oregon Institute of Neuroscience
Monte Westerfield, Ph.D., is at the Institute of Neuroscience and Department of Biology at the University of Oregon. His research is focused on Usher Syndrome with particular expertise in creating zebrafish models of Usher Syndrome mutations. Usher 1F Collaborative has provided seed money for Dr. Westerfield’s lab to begin creating a zebrafish model of the Usher Syndrome Type 1F R245X mutation that is carried by ~2% of those of Ashkenazi Jewish descent. Once successful, he will use the zebrafish to test gene and drug therapies.
Click here to view a presentation explaining and outlining the progress of the work of Dr. Monte Westerfield and his lab associates that Jennifer Phillips, Ph.D., presented at the Usher Syndrome Family Conference in Seattle on July 9, 2016.
Click here to watch an Usher Syndrome Coalition USH Talk with Jennifer Phillips, Ph.D., on gene therapy for Usher Syndrome.
PHOTO CREDIT: (Photo at top of the page) Courtesy of University of Oregon