For the first time in the country's history, scientists from the Center for Advanced Technologies, under the Ministry of Higher Education, Science, and Innovation, have carried out research on human genes, involving complete genome sequencing and analysis.
As a result, dozens of new genetic variations previously unknown to science have been discovered among the population of Uzbekistan. The data obtained by the researchers have been entered into international genetic databases, thereby strengthening Uzbekistan’s position in the global field of genomics, The Caspian Post reports citing Uzbek media.
According to the findings, every second child who participated in the study carries a hereditary mutation, and a genetic predisposition to various diseases has been identified. The most alarming result is that 86% of children were found to carry at least one “damaged” gene, which is twice the international average. Scientists attribute this situation to the high prevalence of consanguineous marriages in certain regions. In some areas, such unions account for nearly a quarter of all marriages.
This situation may seriously affect not only hereditary diseases, but also the overall health of future generations. Scientists emphasize that genetic mutations increase the risk of developing not only rare hereditary disorders, but also more common diseases, such as diabetes, cardiovascular diseases, and oncological illnesses. There is a high probability that these diseases will not only become more prevalent but will also manifest among younger generations. Therefore, researchers stress the importance of conducting genetic screening for couples before marriage, as well as including children in early screening and prevention programs. Such measures will make it possible to detect diseases at early stages and prescribe appropriate treatment.
The study produced a wealth of essential data. In more than half of the examined patients, an accurate genetic diagnosis was established, allowing doctors to select the most effective treatment method. Nearly one-third of the identified mutations had not been previously recorded in global science and have now been added to international databases. Furthermore, in some children, signs of multiple hereditary diseases were detected simultaneously, once again confirming the high rate of consanguineous marriages in the country.
Director of the Center for Advanced Technologies and Head of the “1000 Genomes of Uzbekistan” project, Professor Shakhlo Turdikulova, stated: “For the first time, we have seen the real genetic picture of our people. If most children carry hidden hereditary mutations, this process cannot be stopped without a system of prevention and genetic counseling. It is essential to introduce premarital screening programs”.
The “1000 Genomes of Uzbekistan” project is aimed at creating a genetic map of the population and forming a national biobank. In the future, this data will serve as the foundation for the development of personalized medicine, the creation of new pharmaceuticals, and the implementation of precise screening programs.
This research represents not only a significant scientific achievement for Uzbekistan but also an essential step toward preserving public health. A preventive healthcare system based on scientific findings will play a crucial role in ensuring the well-being of future generations.
