Saturday, January 27, 2024

Gene Therapy Rescues Childhood Deafness

Gene therapy, a revolutionary medical technique first conceptualized in the 1980s, has steadily advanced, offering new hope in treating various genetic disorders. This approach involves altering a person’s genetic makeup to combat diseases, representing a significant shift from traditional methods like drugs or surgery. 

Gene therapy faces challenges, including immune reactions, targeting errors, and the risk of new mutations. But in many cases benefits outweigh the risks.

A recent milestone in gene therapy has been its application in treating inherited hearing loss. The focus is on DFNB9, a form of deafness caused by mutations in the OTOF gene, responsible for producing otoferlin, a crucial protein in sound signal transmission. This leads to nonsyndromic Hearing Loss - a hearing loss that occurs with no other symptoms. A collaborative clinical trial between Chinese researchers and Mass Eye and Ear investigators has yielded remarkable results.

The trial involved six children with autosomal recessive deafness (DFNB9), all between one and seven years old. The gene therapy entailed injecting a functional OTOF gene using viral carriers into the inner ear. This process enabled the cells to produce otoferlin, thereby restoring hearing capabilities.

Over 26 weeks, five of the six children showed significant hearing improvements, with abilities ranging from understanding speech to verbalizing words, even holding phone conversations. 

This success paves the way for addressing other genetic forms of deafness involving genes like GJB2, MYO15A, TMC1, or SLC26A4. These genes play various roles in the inner ear's development and function, and researchers are diligently working to develop targeted gene therapies for these conditions.

Gene therapy, once a concept, is now transforming lives. As research continues, it holds the promise of curing not just deafness but a spectrum of genetic disorders, marking a new era in medical science.


Qi J, Tan F, Zhang L, Lu L, Zhang S, Zhai Y, Lu Y, Qian X, Dong W, Zhou Y, Zhang Z, Yang X, Jiang L, Yu C, Liu J, Chen T, Wu L, Tan C, Sun S, Song H, Shu Y, Xu L, Gao X, Li H, Chai R. AAV‐Mediated Gene Therapy Restores Hearing in Patients with DFNB9 Deafness. Adv Sci (Weinh). 2024 Jan 8:e2306788. doi: 10.1002/advs.202306788. Epub ahead of print. PMID: 38189623.