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The legal norms regulating the collection, storage and processing of human genetic information are aimed at ensuring the proper conduct of genetic research procedures and protecting the participants’ rights. It is particularly important to highlight that national legislation, taking into account international practice, should provide specific methods for collecting biological material, information storage periods and features of its processing. Purpose: to identify the legal characteristics of the collection, storage and processing of genetic information, including legal issues and criteria for modernizing the legislation governing genetic information research. Methods: empirical methods of comparison, description and interpretation, formal-legal, interpreting legal norms. Results: the article considers legal aspects and characteristics of regulating the process and conditions of collection, storage and processing of genetic information; it reveals some problems encountered in genetic research, regarding the storage time of materials and confidentiality in the processing of third-party information. The authors outline ways of improvement to address them.

The modern development of biological science, medicine and law, accompanied by an interdisciplinary mutual «intrusion» of these sciences into the sphere of technological manipulations with the human genome, has led to the need for adequate legal regulation for these processes. The article proposes to adopt the federal law of the Russian Federation «On the General Principles of Bioethics and Evidence-Based Medicine in the Field of Science, Health Care and Human Welfare». The emergence of this law is dictated by the fact that, according to statistics, from 3 to 5 million people in the Russian Federation can be potential participants in genomic legal relations. Under these conditions, the need for the proposed law is fully felt by society, and the «silence of the legislator» can lead to negative consequences in the field of manipulations with the human genome. The article provides a possible structure of the bill, analyzes its main functions. Purpose: to substantiate the need for the adoption of the law of the Russian Federation «On the General Principles of Bioethics and Evidence-Based Medicine in the Field of Science, Health Care and Human Welfare», to present a possible structure of the draft regulatory act, breaking down the text of the bill into chapters and articles. Methods: method of formal legal analysis, methods of theoretical legal description and interpretation; method of interpretation of legal norms, sociological method. Results: the study makes it possible to propose the draft law of the Russian Federation «On the General Principles of Bioethics and Evidence-Based Medicine in the Field of Science, Health Care and Human Welfare», to identify its complex nature, to reveal its main content and functions, to which the author attributes the regulatory, protective and educative functions, in the aggregate, able to effectively regulate the legal relationship regarding the human genome.

The article examines modern naturalism in terms of the unification of knowledge in the field of natural and social sciences and humanities as a new look at the knowledge and solution of human problems. The need to revise approaches to human cognition is determined by the great achievements in the field of biological sciences, and neurobiology, neuropsychology, etc. One of the decisive factors in the turn of philosophical thought to a modern understanding of naturalism was a deep understanding of population and genetic mechanisms in the formation of complex structures of social behavior and life. Modern naturalism can be the solution to the many problems faced by the human beings now. Evolutionary thinking, which became widespread at the beginning of the 21st century because of great achievements in the field of evolutionary epistemology, psychology, economics, ethics, aesthetics, and other evolutionary areas, is today the basis of modern naturalism. It is impossible to investigate the problems of human cognition, as well as the need for solutions to humanities problems without considering human culture, art, and morality. From this point of view, the accumulated theoretical resource of the concepts of selforganization and global evolutionism is quite enough to consider these problems from this perspective. The need for a new naturalism is due to the latest advances in sciences that study the brain, mind, genes, and evolution. Naturalism allows you to stay within the scientific approach, so all research carried out within this approach has rigor and consistency of thought. Using evolutionary thinking as a basis, modern naturalism manifests itself in such directions as evolutionary psychology, evolutionary ethics, and the evolutionary origin of language, culture, and art. As one of the most promising naturalistic programs, evolutionary epistemology argues that human cognition is possible only in an evolutionary biological context.

The article is devoted to the general analysis of self-regulatory practices of genetic research in Russia (conducted by public research institutions and commercial companies). Selfregulation is a special type of regulation, performed by organizations providing genetic research and their associations as well as by relevant professional and scientific community; it is regulated by local acts, agreements, memoranda, professional standards, codes of ethics, etc. and is aimed at establishing relationships in the field of organization, provision and use of results of genetic studies. Basically, selfregulation is especially critical in various aspects of organization and conducting genetic research in the worldwide perspective. The analysis provided by this article allows concluding that self-regulation practice in Russia is applied in several public research institutions, but rather fragmentarily. Moreover, the development of such form of regulation goes slowly. At the same time non-public genomic institutions are trying to evade any significant self-regulation of their activities; they do not provide for any expanded rules or standards of their practices (or they just confine themselves to references and general provisions which are not in line with the specifics of the mentioned activities). On the other hand, it is important to keep in mind that the current Russian legislation is full of gaps in terms of regulating genetic research process. Analysis of several websites of Russian private companies providing genetic profiling services revealed that those organizations almost never place complex information guides on their information portals; they neither provide the standards for performing genetic research in an intelligible form. The websites do not contain any information on possible risks or threats to health connected with application of medical procedures, while the issue of disclosure the gathered genomic information to third parties (e.g., enforcement agencies) is often ignored. More than that, there are hardly any published standards for conducting genomic research or documents on protecting patients rights, etc. Thus, we are forced to acknowledge that the institute of self-regulation in the field of genetic studies is not developed well enough in Russia. The current fragmented nature of legal regulation and selfregulation concerning genetic research may contribute to violation of rights and legitimate interests of patients in terms of confidentiality and safeguarding genetic information, gathered in the process of research. The state therefore should within the established goals of intensive genetic technological development provide all the necessary conditions (including of legal character). However, it is still not clear how the issues of legal regulation of status of genetic research participants, protection of genetic data, incentives for providing genetic research, etc. should be handled. We assume that one of the possible ways of tackling the aforementioned challenges is developing relevant complex legal regulation (including departmental acts) and/or investing the frontline public research institutions with special functions (i.e., within a special council, commission, or association). Such powers will contribute to regulating certain aspects of administering and conducting genetic research and using its results in the framework of legal regulation, which should be mandatory, including for non-public organizations, offering genetic services in the territory of the Russian Federation.

To date, despite significant advances in the study of the immunopathogenesis of chronic hepatitis C (CHC), many open questions remain in the diagnosis, prediction and course of treatment. In the context of the study of this infection, the Toll-like gene family of innate immune system receptors (TLRs) is of considerable interest. The article analyzes and summarizes the data of professional scientific sources on the role of the TLR-4 gene in the functioning of the natural human immune system, as well as Asp299Gly polymorphism of this gene in the immunopathogenesis of CHC. The relevance of the study is due to the fact that the innate immune system is crucial in the primary protection of the macroorganism from pathogens, the recognition of which largely depends on the TLRs receptor gene family, and genetic analysis is a modern and promising direction in personalized medicine. The importance of determining genetic markers lies in the fact that regardless of age and other factors of the external and internal environment, they carry information about the predisposition to various diseases, which can be used in the formation of a genetic passport. The data concerning the influence of the Asp299Gly polymorphism of the TLR4 gene on the immunopathogenesis of CHC are contradictory and require further investigation. An in-depth study of this issue will improve the therapeutic and diagnostic tactics of this disease based on a comprehensive assessment of the features of the immune response, which are caused by the carriage of the indicated polymorphism in the human genome. [ABSTRACT FROM AUTHOR]

This article is devoted to the analysis of the genomic research legal regulation in the Russian Federation and the USA. In the United States, in addition to the legislation great importance is attached to medical and scientific institutions self-regulation, and such information is usually open. It is concluded that in Russia, despite the presence of both state and non-state scientific institutions engaged in genomic research, the mechanism of self-regulation as a whole is fragmented. It is also noted that Russia and the United States have specific legal regulation of these relations, which is reflected in the text of the article. For example, in the United States, unlike Russia, most organizations conducting genomic research, including genomic testing, are non-governmental. Currently, the general trend in the legal regulation of genomic research in Russia and the USA is the active development of normative legal regulation. Moreover, a significant difference in the approaches of these countries is the active role of the US states in the development of regional legal regulation on these issues. Despite the fact that Russia is a federal state, the subjects of the Russian Federation are significantly limited in the genomic research legal regulation possibilities. This is largely due to both legal and political reasons that were given in this article. In the United States, a number of statutes have been adopted at the state level that regulate genomic research in such aspects as health insurance, confidential of personal information, the prohibition of discrimination, screening of newborns, and certain types of clinical and scientific research. It should be noted that the genomic research regulation in the United States is not integrated into a single national consolidated act, which is a feature of this legal system. A comparative legal study of the fundamentals of legal regulation and self-regulation of genomic research in Russia and the USA made it possible to understand the specifics of regulation of these issues in different legal systems. The positive regulatory experience in conducting genomic research in the United States can be used to improve the regulatory framework of the Russian Federation in this area.

Objective: to reveal the prognostic-diagnostic significance of polymorphism of vitamin D receptor (VDR) gene G63980A, reference SNP (rs) 1544410, and possible prognostication of the risk of disorders appearance in the structural-functional state of the bone tissue in a combined course of osteoarthritis (OA) and obesity in young people. Methods: the study group included 96 patients at the age of (35.5 ± 0.9) years with OA and obesity, the control group were 96 practically healthy people of the same age and gender, the comparison group consisted of 18 patients with OA and the normal body mass. Obesity was classified after calculation of the body mass (Ketle) index. The functional state of the locomotor system was assessed by the WOMAC scale. The mineral density of the bone tissue was measured with bone densitometer Explorer QDR W (Hologic). Gene polymorphism was investigated in the human genome by the method of polymerase chain reaction. Odds ratio (OR) of the disease development was calculated. Results: severe radiological stages of joints were revealed 2.4 times more frequently in OA combined with obesity than in isolated OA. Osteoporosis was diagnosed in 59.4% of patients from the study group versus 50% in the comparison one. In the study group, patients with polymorphic variants of VDR gene, who had the B allele, predominated. The following risk factors for the development of OA were revealed: bone fractures in patients and their family members in the past history, genotype variation in VDR gene, age of the onset of disease under 30 and the radiological stage of OA. Conclusions: clinical-instrumental manifestations of the disease worsen in young patients with OA against a background of obesity. The same patients form osteoporotic disorders as early as during five years of the combined course of the above nosologies. Prognostically unfavourable factors are as follows: the BB variant of VDR gene, fractures in patients and their family members' past history, manifestation of the disease under 30 years of age and the radiological stage of OA. [ABSTRACT FROM AUTHOR]

Ischemic stroke is caused by an interruption in the flow of blood to the brain and a risk factor for death and disability. Recent genome-wide association studies have identified more than 40 common sequence variants associated with ischemic stroke. However, the results are not always the same in populations with different genetic backgrounds. In the present study, we evaluated a hypothesis that a North Asian population living in a geographic area with unusually harsh environmental conditions would develop unique genetic risks. We investigated the candidate genes for ischemic stroke and risk factors in a Chinese Mongolian population which has not been explored previously. A total of 167 stroke cases and 176 controls were included in the study. Genotyping was performed by amplicon sequencing. The association was detected with single nucleotide polymorphisms (SNPs) located within genes NINJ2 (rs12425791) and ALDH2 (rs2238151) as well as intergenic rs9536591 were significantly associated with ischemic stroke, of which SNP rs12425791 of the NINJ2 gene was the strongest association. ALDH2 gene encodes mitochondrial aldehyde dehydrogenase, involved in the oxidative pathway of alcohol metabolism. Sex, age, body mass index and high blood pressure might be the risk factors. The current work also demonstrated genetic heterogeneity exists between Chinese and other populations. Our study provided the new insights into the genetic basis and environmental factors of ischemic stroke in Mongolian population.

CG-rich islands (CpG-islands, or CGI) are important functional elements in a genome of vertebrates. In particular, they: a) initiate transcription as promoters in most (> 50 %) genes of vertebrates, in some cases bi-directional, due to self-complement feature of cg dinucleotides; b) form a global methylation landscape; c) act as a transcription “switch” via methylation. The degenerate nature of CpG-island (elevated CG composition) implies an increase in the probability of tandem repeats and palindromes within CpG- island. This work is devoted to the identification of tandem duplications of complete CpG-islands, i. e. considering mega monomers of size 400–5 000 bp, in the human genome. We found a range of inter- and intragenic tandem duplications of CpG-islands. Intergenic CpGi duplication mediates through CG-rich telomeric satellites, as well as elements of the SINE. One of the most pronounced tandems are located in chromosome 19, known for its abundance of segment duplications and gene expansion. We also underline the unique genomic segment, which is DXZ4 mega satellite, in q arm of chromosome X, also falling into the category of CpG-islands which evolved by tandem duplications rounds.

Abstract. Identification and studying of numerous functions of all genes of the human beings is one of the main objects of modern biological science. Due to high level of homology between mouse and human genomes the important role to reach above mentioned goal belongs to the mouse model which using in the classical genetics increase in connection with appearance of different inbred mouse lines. For instance, the differences in immune response to infectious pathogens in various mouse lines were used many times to determine immunologically competent genes. That is why the contribution of mouse model in understanding of the mechanisms of immune response to infectious pathogens is difficult to overestimate. In the current review some of the most successful and well known examples of mouse using in studies of anti-infectious response are described.

The new millennium moved us solidly into a brave new world when the human genetic code was cracked in the year 2000, outlining the biochemical recipe, encoded in DNA, for manufacturing and operating a complete human being. This new world is characterized by extensive reconfiguration of life itself, a spectacular blurring of categories and a bewildering complexity of biosocial realities and associated technologies. The article seeks to determine the nature of the social consequences that have followed the deployment of new technologies, pointing at the increasingly complex relationship between 'the human' and 'the technological', addresses the ethical and political questions arising from the constant transformation and manipulation of humanity, by means of reinforcing the powers of medicalization and progressive rates of a social demand for associated technologies, based on biotechnological breakthroughs. Assisted reproductive technologies (ART) could be approached as a profoundly contradicted and highly dynamic function that links culture, biology and nature. [ABSTRACT FROM AUTHOR]

The international project Human Proteome (PHP), being a logical continuation of the project Human genome, was started on September 23, 2010. In correspondence with the genocentric approach, the PHP aim is to prepare a catalogue of all human proteins and to decipher a network of their interactions. The PHP implementation difficulties arise because the research subject itself -- proteome -- is much more complicated than genome. The major problem is the insufficient sensitivity of proteome methods that does not allow detecting low- and ultralow-copy proteins. Bad reproducibility of proteome methods and the lack of so-called «gold standard» is the second major complicacy in PHP implementation. The third problem is the dynamic character of proteome, its instability in time. The paper deals with possible variants of overcoming these complicacies, preventing from successful implementation of PHP. [ABSTRACT FROM AUTHOR]

Retroelements are considered as one of the important sources of genomic variability in modern humans. It is known that transposition activity of retroelements in germline cells generates new insertions in various genomic loci and sometimes results in genetic diseases. Retroelements activity in somatic cells is restricted by different cellular mechanisms; however, there is an evidence for it in some tissue types. Somatic insertions can trigger tumorigenesis or participate in normal functioning such as generation of neurons' plasticity. In spite of the rapid development of high-throughput sequencing methods a confident detection of somatic insertions is still quite a challenging task. That, in part, is due to the absence of adequate bioinformatic tools for the analysis of sequencing data. Here, we propose an advanced computational pipeline for the identification of somatic insertions in datasets generated by selective amplification and high-throughput sequencing of genomic regions flanking insertions of AluYa5. Particular attention is paid for the identification of various artifacts arising in course of library preparation and the parameters for their filtration. Pipeline sensitivity is confirmed by in silico experiments with artificial datasets. Using the proposed pipeline we remove at least 80% of artifacts and preserve 75% of potentially somatic insertions. The approaches used in this work can be applied for the study of other mobile elements insertion variability.