An important component in the journey to developing treatments for Usher syndrome is having an animal model to understand what is happening on a cellular and genetic basis. With Usher syndrome specifically, it has been historically challenging to produce a model that has both the hearing loss and visual problems reported in patients. Dr. Muna Naash at the University of Houston reported successful design and generation of a model with a specific gene mutation found in USH2A (c.2299delG) that shows retinal degeneration.
What this means for Usher syndrome: Having a model that reproduces the USH2A retinal phenotype is a solid starting point for designing future therapeutic interventions. It also allows Naash’s team to study the mechanism of the disease more thoroughly.