A toddler who was born completely deaf due to a rare genetic condition can now hear unaided thanks to a pioneering gene therapy.
Known as auditory neuropathy, this type of hearing loss arises when the ears can detect sound but can't relay that information to the brain. The condition is caused by mutations in a gene called OTOF that normally makes otoferlin, a protein needed for the inner ear to talk to neurons that are linked to the brain. The condition accounts for between 1% and 8% of cases of congenital hearing loss that occurs in the absence of other symptoms.Opal was diagnosed at 3 weeks old.
By submitting your information you agree to the Terms & Conditions and Privacy Policy and are aged 16 or over.Within four weeks of the gene therapy, Opal could respond to sounds even when her cochlear implant was switched off, her doctors reported. Twenty-four weeks out from treatment, her treated ear could pick up soft sounds, such as whispering, at"close to normal" hearing levels.
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Source: Nature - 🏆 64. / 68 Read more »