Studies in the field of early diagnostic of health disorders

The research works in the field of early diagnostic of health disorders associated with environmental factors, lifestyle etc. were carried out by the specialists of the Federal Scientific Center for Medical and Preventive Health Risk Management Technologies in 2019.

Determination of biomarkers of negative effects of environmental factors and the educational process in children.

The group of researchers of the Federal Scientific Center for Medical and Preventive Health Risk Management Technologies has developed the methodical approaches to substantiating biomarkers of negative effects from the central nervous system and comorbid pathology in children associated with the combined impact of factors of the educational environment, hygienic conditions and lifestyle. Established and justified biomarkers of negative effects in children can be used to assess the probability of developing diseases of the nervous system and comorbid pathology under the combined influence of environmental factors and the educational process, as well as for early detection and prevention of additional cases of diseases in children.

Genetic studies for early diagnosis of health disorders associated with excessive arsenic contamination.

Specialists of the laboratories of the Department of immunogenetic research methods of the Federal Scientific Center for Medical and Preventive Health Risk Management Technologies have conducted researches to identify genes for predisposition of skin melanosis and dyschromia associated with excessive arsenic contamination. Significant deviations in the frequency of genotypes of the TERT telomerase genes, the 9 MMP9 Gln279Arg matrix metalloproteinase gene, and the ZMPSTE24 zinc metallopeptidase gene were revealed. It was found that when the simultaneous combination of variant (heterozygous and/or variant homozygous state of the genotype) allele of the TERT gene (rs 10054203) C309G; the MMP9 gene (rs17576) Gln279Arg, A/G, and the ZMPSTE24 gene (rs 2076697) T/C, the concentration of the "guilty" factor (arsenic) in the urine above the upper limit of the reference concentration (0.0-300.0 mcg/dm3) in patients with dyschromia and melanosis, while in a group of patients without clinical manifestations of dermatosis, this pattern was not found. As a diagnostic criterion for predicting the risk of formation of the skin disorders in the form of melanosis and dyschromia in humans under conditions of excessive arsenic contamination, it is recommended to use the modified genotype using a section of DNA as a primer by examining the genotypes of the TERT gene (rs 10054203), the MMP9 Gln279Arg gene (rs17576) and the ZMPSTE24 gene (rs2076697). The obtained results of genetic studies are in demand for the development of individual prevention programs. Besides, they can be used when developing the sanitary and hygienic measures in order to prevent and eliminate the effects of harmful chemicals, in particular, arsenic, which causes the risk of skin disorders in the form of melanosis or dyschromia.