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Showing posts with the label OTOF gene

Groundbreaking Gene Therapy Enables Deaf Baby to Hear: A New Era in Audiology

One Step Closer In Medical Breakthrough   In a medical breakthrough, a toddler born deaf due to a rare genetic condition can now hear without any external aids, thanks to pioneering gene therapy. Opal Sandy, an 18-month-old from the U.K., has become the youngest recipient of this transformative treatment, sparking hope for similar advancements in treating congenital hearing loss. Diagnosed at just three weeks old with auditory neuropathy, Opal's condition is a rare form of hearing loss where the ears detect sound, but the brain does not receive the signals. This is due to mutations in the OTOF gene, which is crucial for the protein otoferlin to facilitate communication between the inner ear and brain neurons. When Opal was 11 months old, she became part of a groundbreaking global trial that aimed to correct this genetic defect. This trial involved administering a modified virus to deliver a functional copy of the OTOF gene directly into the cells of her right ear. The gene therapy ...