In Russia, there is a means to treat hereditary hearing loss at the stage of embryonic development, but families in which both parents are deaf and can only have a deaf child are not ready to take such a step for fear of losing contact. The molecular geneticist, vice-rector for scientific work of the Russian National Research Medical University, told him about this “socialbites.ca”. AGP named after Pirogov, Director of the Institute of Translational Medicine of the National Medical Research Center. Kulakova Denis Rebrikov.
The scientist explained that each person has two complete sets of genes (25 thousand each) received from mother and father. If one gene is broken and the other is working, this usually does not lead to the development of the disease.
“But if both partners have two genes defective (and the probability of such a coincidence is about 1 percent, not that little), then such a couple will have a 25 percent chance of having a sick child. But if both parents already suffer from a similar hereditary disease (for example, hereditary hearing loss), then there is a 100% chance that all their children will also suffer from the same disease. This is because parents cannot pass on a healthy gene to their children, they just don’t have it,” Rebrikov explained.
According to him, Russian scientists have developed a technology that allows such couples to give birth to a healthy child.
“Our CRISPR/Cas-based technology allows us to repair a gene in the first cell stage of a future organism. We take the first cell, the zygote, and repair the defective parental gene within it. This will lead to the birth of a healthy baby. But we have a problem with families with hearing loss; a single married “There are not even a couple, and according to various estimates, from 200 to 500 people with hearing loss in Russia are ready to take such a step,” he said.
According to Rebrikov, such families are sure that a hearing child will be more likely to move away from his deaf parents, move away from them and leave the family earlier.
“If a married couple with hereditary hearing loss due to the Connexin 26 gene (GJB2) contacts us and wishes to give birth to a hearing child, then, after certain genetic examinations of this couple, we will submit documents allowing the use of this approach to the Ministry of Health. “I am sure we will achieve this,” said the geneticist.
Previous scientists They managed to transform It reversed hearing loss in mice by activating the Spns2 gene.