Usher Syndrome, the most common genetic form of deaf-blindness, is broken down clinically into three major types based on disease severity, age of disease onset, and causative genetic mutation. Usher Syndrome types 1 and 2 account for the highest number of cases and are known to be caused by mutations in a number of different genes. The focus of Odylia’s gene therapy program is Usher Syndrome type 1C (USH1C).
USH1C is characterized by deafness at birth, vestibular (balance) problems, and prepubertal onset of Retinitis Pigmentosa. While Usher Syndrome type 1 can be caused by mutations in several different genes, USH1C is caused by inheritance of mutations in both copies of the USH1C gene. The USH1C gene encodes the protein Harmonin, which is an anchoring and scaffolding protein known to be important for normal development of cochlear hair cells and hearing. While it is known that mutations in this gene also cause vision and vestibular dysfunction, the underlying molecular changes remain poorly understood.
To address the lack of treatments for this disease, Odylia is developing a gene therapy to prevent vision loss caused by mutations in the USH1C gene. In collaboration with researchers at Johannes Gutenberg-University Mainz, Technical University Munich, Academy of Sciences of the Czech Republic, and the University of Tübingen, Odylia is testing the therapeutic potential of a subretinal gene therapy in a genetic model of Usher Syndrome Type 1C. By teaming up with the Usher 2020 Foundation and the FAUN Foundation, Odylia is providing hope to those affected by USH1C.