The innovative therapy, which involves replacing defective genes with healthy genes, may prevent deafness in children born with genetic mutations that cause hearing loss.
The scientists developed a treatment for genetic deafness caused by a specific mutation identified for the first time in Israeli families.
A healthy gene was injected into the ears of mice with a mutation for deafness, replacing a defective gene in cells that are crucial for hearing.
Newborn mice that received the treatment developed with completely normal hearing.
The scientists believe that their findings can serve as a basis for developing similar treatments for mutations in other genes as well.
The study was led by Prof. Karen Avraham and Shahar Taiber, a student in the combined MD-PhD track, from the Department of Human Molecular Genetics and Biochemistry at the Sackler Faculty of Medicine, and the Sagol School of Neuroscience, and Prof. Jeffrey Holt from Boston Children’s Hospital and Harvard Medical School. Additional contributors included Prof. David Sprinzak from the School of Neurobiology, Biochemistry and Biophysics at the George S. Wise Faculty of Life Sciences at Tel Aviv University. The paper was published in EMBO Molecular Medicine.
Deafness is the most common sensory disability worldwide.
According to the World Health Organization, there are about half a billion people with hearing loss around the world today, and this figure is expected to double in the coming decades.
One in every 200 children is born with a hearing impairment, and one in every 1,000 is born deaf. In about half of these cases, deafness is caused by a genetic mutation. There are currently about 100 different genes associated with hereditary deafness.
“In this study we focused on genetic deafness caused by a mutation in the gene SYNE4 – a rare deafness discovered by our lab several years ago in two Israeli families, and since then identified in Turkey and the UK as well,” Professor Avraham said.
The treatment was administered soon after birth and the mice’s hearing was then monitored using both physiological and behavioral tests. “The findings are most promising: Treated mice developed normal hearing, with sensitivity almost identical to that of healthy mice who do not have the mutation,” Professor Holt added.
The scientists are currently developing similar therapies for other mutations that cause deafness.
The study was supported by the BSF – US-Israel Binational Science Foundation, the NIH – National Institutes of Health, the ERC – European Research Council, and the Israel Precision Medicine Partnership Program of the Israel Science Foundation.