Gene Therapy for Deafness, Autism Genes, Breakthroughs in Parkinson’s and ALS, and More

Researchers with the Institut Pasteur and several other institutions restored the hearing in adult mice with a specific congenital form of deafness using gene therapy. Researchers with Institut Pasteur, University of Florida, University of California, San Francisco (UCSF), Columbia University Medical Center, College de France, Sorbonne University and the University of Clermont Auvergne published their research in the Proceedings of the National Academy of Sciences. The mice had DFNB9 deafness. Individuals with this type of deafness are profoundly deaf. The gene coding for otoferlin does not function, and this protein is required for transmitting sound data at the auditory sensory cell synapses. They injected the gene into the cochlea of the mice, restoring auditory synapse function and hearing thresholds to a near-normal level. The authors wrote, “Here, we used a mouse model of DFNB9, a human deafness form accounting for 2-8 percent of all cases of congenital genetic deafness. We show that local gene therapy in the mutant mice not only prevents deafness when administered to immature hearing organs but also durably restores hearing when administered at a mature stage, raising hopes for future gene therapy trials in DFNB9 patients.”