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In July, the Usher Syndrome Coalition, in conjunction with Boston Children’s Hospital, hosted the International Symposium on Usher Syndrome, which brought together researchers, clinicians, geneticists, and specialists to present the latest research on Usher Syndrome. Sessions and posters covered topics including diagnostics, epidemiology, population genetics, functional genetics, phenotypes and natural history, as well as preclinical and clinical trials. The final day of the conference was the annual Usher Syndrome Family Conference, where professionals were brought together with those affected by Usher Syndrome. This combination of events engaged the largest number of constituents in the history of the Usher Syndrome community, enabling the exchange of ideas in order to facilitate progress in the field of Usher Syndrome research!
Sound waves produce the sensation of hearing by vibrating hair-like structures on the inner ear’s sensory hair cells. But how this mechanical motion gets converted into electrical signals that go to our brains has long been a mystery.
“People have been looking for more than 30 years,” says Jeffrey Holt, PhD, of the Department of Otolaryngology at Children’s Hospital Boston. “Five or six possibilities have come up, but didn’t pan out.”
In the Journal of Clinical Investigation, team led by Holt and Andrew Griffith of the National Institute on Deafness and Other Communication Disorders (NIDCD) demonstrated that two related proteins, TMC1 and TMC2, are essential for normal hearing – paving the way for a test of gene therapy to reverse a type of genetic deafness.
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”