The Chaikof family founded Usher 1F Collaborative because two of their three children, Rachel and Jessica, are affected by the disease. Saving their daughters’ vision is a race against time, with the window narrowing as more time passes without an effective treatment. Both girls were born profoundly deaf but were fortunate to receive cochlear implants as babies which, combined with several years of therapy, have allowed them to hear and speak well and succeed in mainstream schools. Rachel even became fluent in French, and Jessica is in college majoring in chemistry. Both girls love to travel and see the world. At Rachel’s high school graduation, her parents, grandparents and Auditory-Verbal therapist watched and cheered as she won one of her school’s top academic awards, thinking of how the years of hard work had paid off. Then two months later and a few weeks before Rachel, a very gifted artist, was to begin art college, she received the devastating diagnosis of retinitis pigmentosa during a routine annual eye exam. The family knew immediately that meant Rachel and Jessica both have Usher Syndrome. Talking about the implication for her life of losing her vision, Rachel states, “If no effective treatment becomes available, I will no longer be able to travel, see our incredible world, and pursue my passion for photography.”
Much of the research into a cure for retinitis pigmentosa is genotype specific. When Usher 1F Collaborative was founded in December 2013, there was minimal research for type 1F. Today, we have provided significant funding to four major research labs that specialize in Usher Syndrome research:
- Edwin Stone, M.D., Ph.D., at the University of Iowa Wynn Institute for Vision Research, is developing gene replacement therapy, a technique used successfully for other types of retinitis pigmentosa, to replace the mutated gene in the eye, as well as stem cell therapy using patients’ own skin cells, to halt further progression of vision loss and restore lost vision.
- Monte Westerfield, Ph.D., at the University Of Oregon Institute Of Neuroscience, has developed a zebrafish model of the Usher 1F mutation and is using it to test drugs that hold the potential to halt or slow the progression of vision loss.
- 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.
- Livia Carvalho, Ph.D., at the University of Western Australia, is collaborating with Dr. Ahmed to develop gene replacement therapy for Usher 1F.
Right now, parents of children with type 1F are sitting and watching their children’s vision fade while clinical trials for other Usher genotypes are offering encouragement and hope to others. Yet, we can only sit by and watch this disease rob our children of their chance for a full and vibrant life. Please help make hope a reality for those with type 1F.
Mission: The purpose of Usher 1F Collaborative is to fund medical research to find an effective treatment to save or restore the vision of those with Usher Syndrome type 1F.
Vision: Working together, we can ensure that no child will face an ever darkening world from Usher Syndrome type 1F and no adult will live in darkness and silence.