Population Genetic Studies of Usher Syndrome

Pilot Project of Population Genetic Studies of Usher Syndrome (funded January 2006)

Grant Summary:
The research is being conducted at the Oregon School of the Deaf in Salem, Oregon by Dr. William Kimberling from Boystown University. The goal of this study is to determine the frequencies of known Usher syndrome subtypes and their mutations in a deaf school population and in students with varied hearing losses in special education classes. This project is nearing completion and we received a synopsis of the study from the researchers at the First Annual Usher Syndrome Symposium in Omaha, Nebraska in October 2006.Ultimately, this information is important for many reasons, including increasing awareness of Usher syndrome, improving genetic testing strategies, providing earlier diagnosis, and identifying individuals as potential treatment candidates for future clinical trials. There is an opportunity that if the pilot project is successful, the National Institute of Health will award a 2.5 million dollar grant for the full screening project. This type of research gives us great hope for a cure.