Before any treatment for Usher 1B can reach patients, regulators will ask a simple question: does the MYO7A protein it produces fold correctly and do its job? The test that answers it is called a potency assay. For Usher 1B, none exists yet, and without one a promising therapy can stall before it ever reaches a clinical trial.
SSNEU funded the first step. Prof. David Gamm and Dr Celia Bisbach at the University of Wisconsin-Madison used gene editing to attach a small molecular label to MYO7A in human stem cells. They then grew those cells into retinal organoids: tiny pieces of human retina, a few millimetres across, with rods, cones and light-sensing outer segments.
The first attempt did not work, because the edited cell lines showed chromosomal abnormalities, so the team changed its approach. The second attempt worked. For the first time, MYO7A could be seen clearly inside a lab-grown human photoreceptor, concentrated near the ciliary rootlet at the base of the light-sensing part of the cell. The label also makes it possible to pull MYO7A out of the tissue and identify the proteins it works with. The team presented this work at ARVO, the main international eye research congress, in 2025.
The project has since grown. Save Sight Now, our sister foundation in the United States, and the Foundation Fighting Blindness are funding a three-year project in the Gamm lab to turn this tool into a standard potency assay, one that any MYO7A treatment (gene therapy, gene editing or a drug) can be measured against.
Early funding can make this kind of difference. SSNEU funded the tool when it was still an untested idea, and Save Sight Now and the Foundation Fighting Blindness are now taking it further.
