Usher 1F Collaborative is working to fund medical research to find an effective treatment or cure for the vision loss of Usher Syndrome type 1F. Our goal is to both halt further vision loss and reverse vision loss in those already affected and to prevent vision loss in babies born with this disorder.

We have identified 3 potential paths to a cure, gene, drug, and stem cell therapies. Our initial goal was to develop an animal model of the Usher 1F mutation on which to test potential therapies. We now have both a zebrafish and mouse model, both of which display all 3 traits of Usher 1F, profound deafness from birth, an impaired vestibular system, and progressive vision loss. The challenge to developing gene therapy for Usher 1F is that our gene is large and will not fit on the current viral vectors used to deliver replacement genes. Thus, our researchers are working on 4 different strategies, a split gene dual vector approach, a mini-gene, base editing, and development of an AAV viral vector that will hold our entire large gene. We have already begun testing of translational readthrough inducing drugs on our zebrafish model and plan to test dugs already approved for other uses shortly. Finally, one researcher is developing stem cell therapies using patients' own skin cells

We have a board comprised of people with the necessary and complementary skills, 3 PhD research scientists, including one MD, PhD, one working in pharma venture capital, and one working in drug development, along with other board members with connections to wealthy individuals to help raise funds for research, and, last but not least, a group of affected, dedicated, and determined families. We have now engaged 5 research teams who are specifically researching Usher 1F, including at Harvard, the University of Oregon Institute of Neuroscience, the University of Iowa Institute for Vision Research, the University of Maryland, and the University of Western Australia. In addition, we are partnering with a team at the Center for Eye Research Australia. Finally, our two animal models have opened up paths for testing potential treatments.

Measuring progress for us is very clearcut - When our researchers develop potential treatments that show arresting and/or reversing of vision loss in our animal models, we will know we are closer to reaching our goal. In the interim, having treatments, such as a mini-gene and split gene ready for testing in our animal models, comprise our short term goals. Our long term goal is to have a clinical trial in humans approved and to realize success in a clinical trial.

We have: Developed 2 animal models that share all 3 human Usher 1F traits Engaged 4 research labs dedicated to Usher 1F specific research Partnered with 2 research labs obtaining their own funding for Usher 1F specific research Directly funded over $1 million in research and helped our partners raise another $2 million Begun development of gene and stem cell therapies for Usher 1F Have 3 split gene treatments developed and beginning in vitro testing with 2 more anticipated shortly