For the last two years, Save Sight Now has supported a project that is moving us closer to finding a treatment for Usher syndrome type 1B. Martha Neuringer and her team at OHSU have achieved something groundbreaking. They used CRISPR-Cas9 technology to edit the genes of a Non-Human-Primate embryo. After implanting the edited embryo into a mature female primate, they successfully gave birth to a genetically modified primate with an inherited retinal disease. The specific gene they targeted was MYO7A (related to Usher syndrome type 1B). Six months after the birth of the genetically modified primate named Gema, Martha Neuringer and her team confirmed the presence of all three characteristics associated with Usher syndrome type 1B: balance issues due to a damaged vestibular system, significant hearing loss in both ears, and the early onset of retinal degeneration. This confirms the successful creation of a model for Usher syndrome type 1B in non-human primates.

This is a tremendous scientific and medical accomplishment within the gene editing world AND a game-changing milestone for the advancement of Usher syndrome treatments. NHP’s are the gold standard for testing therapies in animal models, and prior to this breakthrough, there has never been a reliable animal model to test promising therapies for Usher syndrome type 1B. Without models you cannot test and validate therapies for clinical trials. The more accurate the model the faster and more confident we can test and refine therapies for advancing into clinical trials. This first ever animal model creation also goes far beyond treating Usher syndrome. The tools and protocols that Martha and her team have designed, tested and validated are replicable for many inherited retinal diseases and potentially beyond. Save Sight Now supporters helped to fund this work, and the results are real, tangible and life changing. Overview image below is from 2022 ARVO.