Gene therapy restores hearing to deaf children

Since these were children who were born deaf due to a rare genetic mutation, the idea of ​​gene therapy was to correct this mutation. More specifically, it is the gene that produces a protein called autoferlin: this plays a key role in the connections between the cells that detect sounds in the ears, and those that transmit signals to the brain. In children with this mutation, the gene does not produce the protein in question.

The first phase of treatment in 2022 Target one ear in six children. These five new children become the first To receive treatment for both ears.

But this experiment was conducted at Fudan University in Shanghai, described In the latest issue of the magazine Natural medicineis one of several projects underway around the world: it is reported that it is already Two children in the UK One in the United States regained hearing in one ear.

We've been talking about gene therapy since the 1990s: each time, it involves making modifications to a patient's DNA to combat a genetic disease. In this caseIt involves “delivering” the “normal” version of the gene to the appropriate location (here, the sensory cells of the ears), with the help of a virus, in the hope that the “functional” gene will replace another.

Contrary to popular belief in anti-vaccine circles, there is an RNA vaccine against the coronavirus It has nothing to do with gene therapy. The confusion comes from the fact that we say we are introducing “genetic material” (i.e. RNA) into the cell, but this RNA is not intended to modify anything in our genes, and even if we wanted to, the ARN would not be able to do so. So. It cannot penetrate the cell nucleus (where genes are located) and RNA cannot “replace” the defective gene with a normal gene.

In the near future, the dream of gene therapy will have its limits, because targeting the different causes of diseases at birth is not equally easy to target. This is what has already emerged from the issue of deafness: among children born deaf worldwide, only 2 to 8% are deaf due to this defective gene, called DFN89. Other causes of deafness are more related to the deterioration of the structures inside the ear, something that gene therapy can do nothing against.