New gene mutations previously unknown to global science have been identified in Uzbekistan.

Uzbek geneticists have conducted the first large-scale study of the human genome in the country's history, identifying dozens of previously unknown gene mutations. This was reported by the press service of the Ministry of Higher Education, Science, and Innovation of the Republic of Uzbekistan.

The work was carried out by specialists from the Center for Advanced Technologies at the Ministry of Higher Education as part of the national project "1000 Genomes of Uzbekistan," aimed at creating a genetic map of the population and forming a biobank for the country.

According to the researchers, every second child participating in the project was found to have mutations indicating a hereditary predisposition to various diseases. Moreover, 86% of those examined carried at least one defective gene—a rate twice the global average.

Scientists attribute this to the high proportion of consanguineous marriages, which in some regions of the country reaches 25% .

"For the first time, we have seen the true genetic picture of our people. If the majority of children have hidden hereditary mutations, stopping this process without a system of prevention and genetic counseling is impossible. We need to implement premarital screening programs," said Professor Shakhlo Turdikulova , Director of the Center for Advanced Technologies and head of the "1000 Genomes of Uzbekistan" project.

During the study, more than half of the participants were accurately diagnosed with hereditary diseases, allowing for targeted treatment. Some children were found to have signs of multiple genetic disorders, which, according to the specialists, confirms the problem of frequent consanguineous marriages.

Almost a third of the identified mutations had not previously been registered in international databases, but this data has now been entered into global genetic catalogues.

The study's results are expected to form the basis for the development of personalized medicine in Uzbekistan, the creation of new drugs, and the implementation of early genetic screening programs.