Scientists discover previously unknown genetic mutations among Uzbeks

For the first time in Uzbekistan’s history, researchers from the Center for Advanced Technologies under the Ministry of Higher Education, Science and Innovation have conducted a comprehensive study of human genes – a full genome sequencing and analysis.

As a result of this research, dozens of previously unknown genetic mutations were identified among Uzbeks. The newly discovered data have been added to international genetic databases, which, according to researchers, strengthens Uzbekistan’s position in global genomics.

The study revealed that every second child examined had hereditary mutations, indicating a genetic predisposition to certain diseases. Alarmingly, 86 percent of the children carried at least one defective gene – a rate twice as high as the international average. Scientists explained this by the prevalence of marriages between relatives in some regions, where such unions make up nearly one-fourth of all marriages.

Experts warn that this situation could have serious long-term effects not only on the prevalence of genetic disorders but also on overall public health. Genetic mutations, they noted, increase the risk of both rare inherited diseases and widespread conditions such as diabetes, cardiovascular disease, and cancer. Consequently, these illnesses may not only become more common but also begin to appear at younger ages.

Researchers emphasized the importance of introducing genetic testing for couples before marriage, as well as early screening and preventive programs for children. They said such measures would allow diseases to be detected and treated at an early stage.

The study also provided doctors with valuable data – more than half of the patients examined received a specific genetic diagnosis, helping physicians choose the most effective treatment methods.

Nearly one-third of the identified mutations had never been recorded in global scientific literature and have now been added to international databases. In some children, several hereditary conditions were found simultaneously, further confirming the high rate of consanguineous marriages in the country.

“For the first time, we have seen the true genetic landscape of our population. If most children carry hidden hereditary mutations, it will be impossible to stop this process without prevention and genetic counseling. That is why implementing pre-marital genetic screening programs is extremely important,” said Professor Shahlo Turdiqulova, Director of the Center for Advanced Technologies and head of the “1000 Genomes of Uzbekistan” project.

The “1000 Genomes of Uzbekistan” project aims to create a genetic map of the population and establish a national biobank. Researchers say the data will lay the foundation for the development of personalized medicine, the creation of new drugs, and the design of targeted screening programs in the future.

The Center for Advanced Technologies is a modern research institution equipped with advanced laboratories conducting studies in biotechnology, genetics, nanotechnology, and artificial intelligence. During the pandemic, the center’s scientists helped identify new strains of the coronavirus and co-developed the ZF-UZ-VAC 2001 vaccine.