Despite the impressive achievements of paleogenetics, the medical and genetic history of ancient populations has yet to be explored in detail. The vast majority of studies on ancient individuals or groups of people who lived in various historical and prehistoric periods focus on their evolutionary and population history, their origin and migrations. Here we discuss the prospects of a new direction – the pathogenetics of ancient people. For correct medical and genetic interpretation of genomic data, reliability criteria have to be established taking into account the specific features of ancient DNA: poor DNA preservation, contamination with modern human and microbial DNA, and, especially, chemical modifications accumulating in DNA. In the sequencing data of ancient genomes these modifications manifest themselves with high frequency in a form of so-called “postmortem” mutations. To date, only a few studies are devoted to the identification of genes of mendelian diseases using ancient DNA, which are discussed in this review.

Today, genetic technologies and biobanking form the basis for the development of personalized medicine. At the same time, the collection, storage, analysis and dissemination of biological samples and associated data are both the basis for current and future research, and strategically important information at the state level. To ensure the safety and information security of such information, it is important to build a state information system with a focus on the best world analogues but using import-independent technologies. The article analyzes the foreign experience of digitalization of biobanks and identifies the key advantages of existing information systems, provides examples of the use of collections and data in the implementation of medical genetics tasks, and suggests a step-by-step path for the development of genetic informatization with adaptation to Russian realities, problems, and tasks.

Lung cancer is one of the most commonly diagnosed cancers and the leading cause of cancer death worldwide. Genomic instability is an important feature of almost all human cancers. Cardiovascular disease and cancer share modifiable risk factors, pathophysiological mechanisms, and mutual contributions to genomic instability. Cardiovascular disease and cancer have common modifiable risk factors, pathophysiological mechanisms and mutual contributions to genomic instability. 80 men with lung cancer were examined. The control group included 100 men without oncopathology of close age, living in the same area. A micronucleus assay was performed on blood lymphocytes. The length of DNA telomeric regions was estimated using a quantitative polymerase reaction. An increase in the frequency of occurrence of markers of cytogenetic disorders in patients with lung cancer was noted. In the lymphocytes of the control group, a higher level of indicators of the proliferative pool, the replication index, was registered. The relative telomere length of people in the control group is 1.6 times shorter than the telomere length of patients with lung cancer. In patients with lung cancer and concomitant coronary heart disease, differences in the incidence of apoptosis from similar genotoxic parameters in patients without cardiovascular disease were found. The hTERT gene was not expressed.

Introduction. In the congenital malformations epidemiological monitoring system, multiple congenital malformations (MCM) are considered to be more sensitive indicators of the negative impact of the environment and the detection of teratogens compared to isolated malformations. So the study of the epidemiology of this group of defects is necessary. The aim of the research is to assess the prevalence and dynamics of MCM in the regions of the Russian Federation for the period from 2011 to 2020, as well as to analyze the structure of MCM and assess risk factors.

Materials. Data from epidemiological monitoring of CM from 23 regional registers of the Russian Federation for the period from 2011 to 2020. The total number of registered cases of congenital malformations was 116,705, the number of MCM cases was 8,637. The total number of births was 4,379,889. The frequencies were calculated per 10,000 births.

Results. The overall prevalence of MCM was 19.72 per 10,000 births. There are interregional fluctuations in the prevalence of the MCM group. Over 10 years of observation, there has been an increase in the prevalence of MCM from 17.67 to 22.77 per 10,000. The proportion of induced abortions is significantly higher in the MCM group compared to isolated CMs (39.2% and 18%, respectively). Newborns with MCM are more often born with low body weight, with a slight male predominance (1.5M:1F). In the structure of malformations, congenital malformations of the cardiovascular, musculoskeletal and nervous systems are most common.

Conclusion. MCM are an important subgroup of rare diseases included in malformation monitoring systems. The creation of astandardized high-quality database on MCM will make it possible to analyze the dynamics of the prevalence of multiple malformations in different regions of the Russian Federation and effectively solve the tasks of monitoring CMs to identify teratogenic factors.

Circulating extracellular DNA (cfDNA) in pathology has a negative effect on the cells of the body, supporting systemic inflammation. Ribosomal repeat fragments (rDNA), which accumulate in cfDNA, activate the transcription factor NF-kB, which regulates the transcription of pro-inflammatory cytokine genes. The work shows that antipsychotic therapy is associated with a significant decrease in the concentration of biologically active rDNA fragments in the blood plasma of patients. The search for low-toxic synthetic and natural compounds based on the molecular structures that make up antipsychotics may lead to the emergence of drugs that change the biological activity of cfDNA.

The article describes the role of molecular cytogenetic methods in the context of cytogenomic approach of chromosomal abnormalities. Only the use of a complex (cytogenomic) approach in the diagnosis of chromosomal rearrangements makes it possible to detect CNV, as well as to determine the structure and mechanism of the formation of chromosomal imbalance. In our work, we have shown the possibility and importance of using additional research methods on the example of diagnosing and studying inverted duplications with adjacent terminal deletions (inv dup del). The developed homemade DNA-probes made it possible to detail the structure and confirm the hypothesis of the inverted orientation of the duplicated segment using two chromosome rearrangements, inv dup del(7q) and inv dup del(8p), as an example. The demonstrated cytogenomic approach, which allows the interpretation of complex chromosomal rearrangements such as inv dup del, highlights the importance and necessity of personalizing each case of chromosomal abnormality diagnosis.