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 research at four university laboratories working toward this goal, with two additional labs partnering with us.
University of Iowa, 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 funded the creation of a zebrafish model of the Usher Syndrome Type 1F R245X mutation that is carried by ~2% of those of Ashkenazi Jewish descent. Dr. Westerfield and his team, including Jennifer Phillips, Ph.D., are now beginning testing of drugs on our zebrafish that have the potential to halt or slow the progression of vision loss.
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 University of Oregon Usher 1F researcher Jennifer Phillips, Ph.D., on gene therapy for Usher Syndrome.
PHOTO CREDIT: (Photo at top of the page) Courtesy of University of Oregon
The University of Maryland
Zubair Ahmed, Ph.D., at the University of Maryland, has developed a mouse model of the Usher 1F mutation that he is now using both to test potential drug treatments in collaboration with Dr. Westerfield and to develop gene replacement therapy for Usher 1F.
The University of Western Australia
Livia Carvalho, Ph.D., at the University of Western Australia, is collaborating with Dr. Ahmed to develop gene replacement therapy for Usher 1F. She has developed a dual vector gene replacement therapy, which will soon be with Dr. Ahmed to test for efficacy on our mouse.
For more on Dr. Carvalho’s work, click here.
The University of Pittsurgh
Leah Byrne, Ph.D. at the University of Pittsburgh is developing a split gene dual vector system for gene replacement. Her unique approach increases the efficiency of viral vector co-infection, increasing efficacy of large gene expression.