TAU scientists develop Innovative Therapy to prevent Deafness.

A new study from Tel Aviv University presents an innovative treatment for deafness, based on the delivery of genetic material to the cells of the inner ear. The genetic material ‘replaces’ the genetic defect and allows the cell to continue to function normally.

The scientists were able to prevent the gradual deterioration of hearing in mice with a genetic mutation for deafness. They argue that this new therapy could lead to a breakthrough in treating children born with various mutations that eventually cause deafness.

The study was led by Professor Karen Avraham and Shahar Taiber, a combined Ph.D. student in the Department of Human Molecular Genetics and Biochemistry at Sackler School of Medicine and Sagol School of Neuroscience, and Professor Jeffrey Holt of Boston Children’s Hospital. and Harvard Medical School. Additional collaborators included Professor David Sprinzak from the School of Neurobiology, Biochemistry and Biophysics at the George S. Wise School of Life Sciences at Tel Aviv University. The article was published in EMBO Molecular Medicine.

Deafness is the most common sensory disability in the world. According to the World Health Organization, there are around 500 million people with hearing loss worldwide today, and this number is expected to double in the coming decades. One in 200 children is born with a hearing impairment and one in 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 inherited deafness. Prof. Avraham: “In this study we focus on genetic deafness caused by a mutation in the SYNE4 gene, a rare deafness discovered by our laboratory several years ago in two Israeli families, and since then also identified in Turkey and the United Kingdom Children inherit the defective gene from both parents, they are born with normal hearing, but gradually lose their hearing during childhood. This happens because the mutation causes an incorrect location of the cell nuclei in the hair cells within the cochlea of ​​the inner ear. which serve as receptors for sound waves and are therefore essential for hearing. This defect leads to degeneration and eventual death of hair cells. ”

Shahar Taiber: “We implemented an innovative gene therapy technology: we created a harmless synthetic virus and used it to deliver genetic material, a normal version of the gene that is defective in both the mouse model and affected human families.
We injected the virus into the inner ear of the mice, so that it entered the hair cells and released its genetic load. In this way, we repair the defect in the hair cells and allow them to mature and function normally. ”

The treatment was administered shortly after birth and the mice were then monitored for hearing by physiological and behavioral tests. Prof. Holt: “The findings are very promising: the treated mice developed normal hearing, with almost identical sensitivity to healthy mice without the mutation.” Following the successful study, scientists are developing similar therapies for other mutations that cause deafness.

Professor Wade Chien, MD, of the NIDCD / NIH Inner Ear Gene Therapy Program and the Johns Hopkins School of Medicine, who was not involved in the study, clarifies its importance: This is an important study showing that ear gene therapy Internal can be effectively applied to a SYNE4 deafness mouse model to rescue hearing. The magnitude of the hearing recovery is impressive. This study is part of a growing body of literature showing that gene therapy can be applied successfully to mouse models of inherited hearing loss and illustrates the enormous potential of gene therapy as a treatment for deafness.

The study was supported by the BSF – United States-Israel Binational Science Foundation, the NIH – National Institutes of Health, the ERC – European Research Council, and the Israel Precision Medicine Association Program of the Israel Science Foundation.

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