Scientists Decode Genomes of Uzbekistan’s Population: Unique Mutations and High Risk of Hereditary Diseases Identified

Tashkent, Uzbekistan (UzDaily.com) — Scientists from the Center for Advanced Technologies have conducted Uzbekistan’s first large-scale study decoding the genomes of the country’s population.

According to the institution, the work was carried out using the Whole Exome Sequencing (WES) method — an analysis of DNA regions where most clinically significant mutations are concentrated.

As part of the study, 250 children were examined, both healthy and those suspected of having hereditary diseases. Researchers identified dozens of previously unknown gene variants unique to Uzbekistan’s population. In every second child with a rare disease, a hereditary mutation was detected, with 28% of the identified variants previously unknown to global science.

“These data have already been included in international databases, strengthening Uzbekistan’s role in global genomics,” the Center noted.

According to researchers, 86% of the children examined were carriers of at least one pathogenic gene — twice as high as the international average of 30–40%. Experts attribute this to a high rate of consanguineous marriages in the country, which reaches up to 25% in some regions.

“Without systemic prevention, early screening, and genetic counseling, the risk of severe hereditary diseases in future generations will continue to grow,” emphasized the Center for Advanced Technologies.

The study made it possible to establish an accurate genetic diagnosis in 52% of cases, paving the way for targeted treatment. Moreover, 15% of patients were found to have two or more hereditary pathologies. In 79% of recessive cases, homozygous mutations — identical defective genes inherited from both parents — were detected, a pattern typical of populations with intra-family or localized marriages.

Whole exome sequencing is considered the “gold standard” for diagnosing rare hereditary diseases. It enables the identification of causal mutations even in cases with unclear clinical symptoms, speeding up diagnosis and reducing diagnostic costs.

The discovery of genetic variants unique to Uzbekistan’s population will help create a national reference database, improving the accuracy of data interpretation and the effectiveness of genetic screening.

“For the first time, we have seen the true genetic landscape of our population. If most children already carry hidden hereditary mutations, the risk of serious diseases will only increase without prevention and counseling. To break this cycle, we need screening programs for couples planning marriage and the development of genetic services,” said Professor Shakhlo Turdikulova, Vice President of the Academy of Sciences of Uzbekistan and Director of the Center for Advanced Technologies.

The research is being conducted within the framework of the national project “The Thousand Genomes of Uzbekistan,” aimed at creating a genetic map of the population and a national biobank. The biobank will serve as a platform for personalized medicine, the development of new drugs and diagnostic tests, and the enhancement of neonatal and prenatal screening programs.

The Center for Advanced Technologies emphasized that similar infrastructures have already proven effective in several countries, accelerating the introduction of precision medicine and pharmaceutical innovation.

The Center, operating under the Ministry of Higher Education, Science and Innovation of Uzbekistan, serves as a technological platform for scientists and innovators. It specializes in the commercialization and transfer of scientific developments and includes seven laboratories working in biotechnology, cellular technologies, nanomineralogy, and big data analysis.

The Center was a co-developer of the Uzbek-Chinese COVID-19 vaccine ZF-UZ-VAC 2001 and was responsible for monitoring new coronavirus strains in the country. All cases of their appearance were first detected at this very center.