USHER SYNDROME RESEARCH ACCOMPLISHMENTS
Thanks to the generosity of our donors, Hearing Health Foundation (HHF) funds groundbreaking research to advance our scientific understanding of the leading genetic cause of deafblindness, Usher Syndrome.
Grants focused on Usher syndrome are awarded annually to promising scientific investigators through the Emerging Research Grants (ERG) program.
USHER SYNDROME RESEARCH ACCOMPLISHMENTS BY HHF-FUNDED SCIENTISTS
Susan M. Robey-Bond, Ph.D., and colleagues, examined cells from patients containing the Y454S mutation displayed lower levels of protein synthesis, which could explain the onset of deafness these patients experience. How these proteins are implicated in the hearing processes will eventually help develop cures or better treatments for Usher syndrome. Learn more.
John Brigande, Ph.D., identified that a single neonatal treatment with a synthetic adeno-associated viral vector successfully delivers a healthy gene to the inner ear to achieve unprecedented recovery of hearing and balance in a mouse model of Usher syndrome. Learn more.
Michelle Hastings, Ph.D., published research that shows that early administration of a genetic targeting treatment is critically important for repairing outer hair cells and thus rescuing hearing in those with genetic disorders like Usher syndrome. Learn more.
William Kimberling, Ph.D., and colleagues mutations observed a variable degree of hearing loss, among Usher syndrome patients with USH2A gene. The group believes the USH2A gene and the resulting phenotype are probably modulated by other variables, such as modifying genes, epigenetics or environmental factors which may be of importance for better understanding the etiology of Usher syndrome. Learn more.