Uzbek geneticists have conducted the country’s first large-scale study of the human genome, discovering dozens of gene mutations previously unknown to global science. The findings were announced by the press service of the Ministry of Higher Education, Science and Innovation of Uzbekistan, reports Avesta.tj.
The research was carried out by specialists from the Center for Advanced Technologies under the ministry as part of the national project “1000 Genomes of Uzbekistan.” The project aims to create a genetic map of the population and establish a national biobank.
The results are striking: mutations indicating hereditary predispositions to various diseases were found in every second child participating in the project. Moreover, 86% of those examined were carriers of at least one defective gene — a figure twice as high as the global average.
According to scientists, this situation is largely due to the high rate of consanguineous marriages, which in some regions reaches up to 25%.
“For the first time, we have obtained a full picture of our nation’s genetic structure. If most children carry hidden hereditary mutations, it is impossible to stop this process without preventive measures and genetic counseling. Pre-marital screening programs must be introduced,” said Professor Shakhlo Turdikulova, Director of the Center for Advanced Technologies and head of the 1000 Genomes of Uzbekistan project.
The study allowed researchers to accurately diagnose hereditary diseases in more than half of the participants and to prescribe targeted treatment. Some children were found to have multiple genetic disorders at once — a phenomenon that experts say reflects the prevalence of close-kin marriages.
Nearly one-third of the discovered mutations had never been recorded in international genetic databases. These findings have now been added to global genetic catalogs.
Researchers expect that the results of the “1000 Genomes of Uzbekistan” project will lay the groundwork for developing personalized medicine, creating new pharmaceuticals, and implementing early genetic screening programs across the country.
CentralasianLIGHT.org
October 21, 2025