USHER 1F COLLABORATIVE INC

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 on our mouse and zebrafish of four gene therapies and three drug therapies.
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. In 2020, we also formed our Scientific Advisory Council, which includes esteemed scientists to help guide us in our path to a cure. We have engaged seven 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, the University of Pittsburgh, the University of Toronto, 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.

We have:
Developed 4 animal model, including 3 that share all 3 human Usher 1F traits
Engaged 7 research labs dedicated to Usher 1F specific research
Partnered with 1 research labs obtaining their own funding for Usher 1F specific research
Directly funded $3.8 million in research and helped our partners raise another $3 million
Have 3 gene therapies that correct hearing in our mouse model with 2 also shown to correct balance. Now testing these gene therapies for restoration of vision on our zebrafish
Have launched RUSH1F, our natural history study in partnership with Foundation Fighting Blindness
Have two promising drugs in testing in our animal models in the lab, one of which is in preparation to begin human trials