Medical genomics: human genome organization, gene expression regulation and genetic variability

Medical genomics is one of the most rapidly developing areas of biological science. The boom in this area of medicine is observed in the last 25 years and is associated with the beginning of the international project «Human Genome». With the decoding of the nucleotide sequence of the genome, knowledge about genetic variability within the species, specific ethnic groups (detection of mutations, genetic mutations) linked the possibility of a deeper understanding of its biological significance in susceptibility to disease, resistance to environmental factors, including biological agents. Against the backdrop of accelerated development of structural genomics there is a significant delay in the development of functional genomics, ideas and mechanisms of the entire genetic apparatus (chromatin, structural genes and regulatory elements) as a whole in health and disease. Immunomics is a new direction to study the cells and genes of the immune system and their role in human biology. New technologies are the whole genome sequencing, the microarray technology and bioinformatics methods are increasingly used in medical practice, which ultimately brings the transition from selective genetic testing of persons with hereditary monogenic defects and diseases to a wider use and the availability of these methods for each person, which will create a scientifically based framework for personalized prevention and treatment of common monogenic and multifactorial diseases.

медицинская геномика, иммуномика, экспрессия, регуляция, транскрипция, микро-РНК, сек-венирование, medical genomics, immunomics, expression, regulation, transcription, miRNA, sequencing

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