A breakthrough in a gene therapy trial conducted by the University of Cambridge Hospitals has helped a little girl hear again. A little girl named Opal Sandy was born with a genetic condition known as auditory neuropathy. This effect the nerve impulses from the inner ear to the brain. For the first 24 months of her life she depended on hearings aids for her to hear.
Auditory Neuropathy can be traced back to a variation in the gene OTOF. This particular gene is responsible for the production of otoferlin. The little hair in your ears need otoferlin to send signals to the nerves for hearing. In most infant screenings hearing, auditory neuropathy is missed and not diagnosed till ages 2-3.
Opals parents were concered Opal may have this gene variant as her older sister has already has the condition. Opal was then tested, and the gene variant was present. Once it was caught early on opal was treated with a new gene therapy where a healthy properly working OTOF gene was delivered to the right ear cochlea using a virus AAV1. The hope was to treat the right ear with this new gene therapy and fit Opal with a cochlear implant for her left ear and compare how the right ear reacts. The next 6 months Opal was monitored by her parents and doctors and showed amazing results. She res responding to sounds even with her left ear implant turned off leaving only her right ear to hear sounds. The goal is to help advance her into hearing and understanding voices which she has shown signs of.
The goal is to continue this trial and continue to us gene therapy as a key part into looking into helping all those effected by auditory neuropathy.
I think this is really promising. When I was younger, I had ear issues where I lost some hearing. If effected my in my developmental stages in school because I couldn't always here exactly what was being said. Now that was just a little bit of my hearing, I can't image how it affected those who don't have any. I think this gene therapy trial has a chance to change many lives.
Links:
Baby Girl Born Deaf Gains Hearing After Gene Therapy
https://www.bing.com/search?q=hearing+loss+in+children+audiotry+neupathy&cvid=0d42a5dae60d48298da64621ba544574&gs_lcrp=EgRlZGdlKgYIABBFGDkyBggAEEUYOTIGCAEQLhhAMgYIAhAAGEAyBggDEAAYQDIGCAQQLhhAMgYIBRAAGEAyBggGEAAYQDIGCAcQLhhAMgYICBAFGEDSAQg5ODc5ajBqNKgCCLACAQ&FORM=ANAB01&PC=HCTS
I also have hearing loss so I understand exactly where you are coming from. It is great to hear about new research coming out that helps with hearing loss! I wonder if this can also be used to help adults who suffer from the same genetic condition or if it will help people with hearing loss in general! This study seems very promising and like it will help so many people in the future!
ReplyDeleteI imagine the hearing problems endured for a child and your personal experience most be tough for many reasons. This seems like promising work to help many people in the future. Hope to see more on this work in the future and many even see work relating to hearing and vision loss.
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