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Dr. Tropepe – Retinal Degeneration in Usher Syndrome

Scientific Title: Function of Usher Syndrome protein PCDH15 in photoreceptor maintenance

Lead Investigator: Dr. Vincent Tropepe
Institution: University of Toronto
Granted: $177,500 over 2 years

Usher syndrome is a genetic disorder that causes hearing and vision loss beginning as early as childhood. While we know many of the genes that are responsible for Usher Syndrome, scientists do not understand how these mutations lead to vision loss. In this project Dr. Tropepe will use a zebrafish model to study a mutation in gene. This gene mutation affects approximately 20% of patients with the most severe form of Usher syndrome, USH1. Dr. Tropepe’s team wants to understand why and how mutations in the pcdh 15b gene cause photoreceptor cell death and if gene therapy can help restore vision.

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