Thanks to the development of modern methods of laboratory diagnostics, we finally have the opportunity to conduct a comprehensive "omix" assessment of a person, including his DNA sequence (complete genome), regulatory labels on DNA (epigenome), a set of RNA (transcriptome), a set of proteins (proteome) and low molecular weight metabolites (metabolome), microbiome, autoantibodies. Each of us has a truly unique biological content, and these unique individual data and information create an unprecedented opportunity to improve treatment and develop preventive strategies to preserve health.
At the moment, obtaining "omix" data is not a medical service, but knowledge about how to interpret them is rapidly accumulating. Today we are pleased to offer you a platform for storing and interpreting the results of full-mix profiling.
A genome is a set of hereditary material enclosed in a cell of an organism. The genome contains information presented in the form of a genetic code - a sequence of repeating blocks of nucleotides, which is necessary for the construction of proteins. The human genome and the genomes of all other cellular life forms are built from DNA, but some viruses have genomes from RNA. [1]
Although the main known function of DNA is to encode the structure of proteins, only less than 1% of the DNA sequence directly encodes proteins. At the moment, there is still a debate about the exact total number of genes in the human genome, and recent calculations suggest a version of 21,306 genes [1].
Genome
[1] Михаэла Пертеа и др. Тысячи крупномасштабных экспериментов по секвенированию ДНК дают полный новый список генов человека и выявляют обширный транскрипционный шум.
An epigenome is a set of specific labels representing the so-called "methyl groups" (CH3), which attach to the regulatory sites of the DNA molecule and, influencing transcription, determine expression ("activity") individual genes, without affecting the primary structure of DNA. Such modifications are called "epigenetic changes". It is important to note that defective, "meaningless" genes can also be "turned on", and important parts of DNA for the body can be "turned off". [1]
If the study of the genome can show the presence of existing predispositions, then the analysis of the epigenome indicates which of these predispositions are actually realized. The epigenome is therefore sometimes compared to the "punctuation marks" in the "text" of DNA.
Epigenome
[1] Стив Хорват, Возраст метилирования ДНК человеческих тканей и типов клеток.
A transcriptome is a collection of all "transcripts", that is, molecules resulting from reading active genes on the scale of the entire organism or a single cell. Such molecules are matrix RNAs (by analogy with genes, they carry information about the sequence of amino acids in proteins) and non-coding RNAs (which are not matrices for protein synthesis, but have regulatory functions) [1].
Unlike the genome, which is mostly the same for all cells of the same line, the transcriptome can vary greatly depending on environmental conditions and the type of cell differentiation. Due to the fact that the term "transcriptome" includes all transcripts, it also reflects the profile of gene expression at a given time, which can be especially useful for understanding the molecular basis of human diseases.
Transcriptome
[1] Генри М. Краузе и др., Новый мир РНК: Растущее количество доказательств функциональности длинной некодирующей РНК
A proteome (from the word "protein" – "protein") is a set of protein molecules produced by a cell, tissue or organism in a certain period of time under given conditions. The conditions mean the state of the body: hormonal background, chronic diseases and infections, the state of metabolism, etc. The complete proteome of an organism is the aggregate set of proteomes of all cells. [1]
Each protein has a specific function depending on the corresponding gene. However, while the genome is determined by the sequence of nucleotides, the proteome is not reduced to the sum of amino acid sequences. The proteome also includes the spatial structures of all the proteins contained in it and the functional interaction between them.
Proteome
A metabolome is a set of all the initial, intermediate and final products of metabolism and their quantitative content in a cell, tissue, organ or organism at a given time. It is strongly dependent on what a person is, where he lives, the time of day, the time of year, the general state of his health and even the level of stress. [1]
Metabolic profiles can provide an instant snapshot of cellular processes, and the study of some biological processes in general is difficult to carry out without the use of metabolomic biomarkers [3]. The low-molecular-weight substances included in the metabolome can be formed in the body naturally (for example, some sugars, hormones and pigments) or come from outside (for example, medicines, man-made toxins and food additives).
The metabolome
[4] Burcu F. Darst et al., “Longitudinal plasma metabolomics of aging and sex”.
The organ level of organization is when two or more tissues work together to perform a specific function. For example, the bladder consists of an inner shell of epithelial tissue connected by various connective tissues with (smooth) muscles. There are also neurons throughout the bladder that control muscle tissue, causing it to contract or relax during the urination reflex. This indicates a single purpose for the functioning of these tissues as part of one organ.
The system level of an organization is when two or more bodies work together for a specific function. The mentioned bladder, in combination with the kidneys (another organ) and the ureters ("tubes" connecting the kidneys to the bladder, form the urinary system (or urinary tract). The urinary system is one of the eleven body systems that can be studied using systemic anatomy [1].
Systems
[1] Fabio Grizzi et al. “The complexity of anatomical systems”
The microbiome is a collection of microbial communities that exist in close relationship with the human body, primarily in the intestine. The microbiome is a stable collection of microorganisms. Its presence and composition determines a number of important processes: from metabolic and immune to cognitive, and the deviation of its composition from the norm leads to the development of various pathological conditions: intestinal diseases], allergic and autoimmune diseases, diabetes, obesity and even neurodegenerative and oncological diseases [1].
The initial qualitative and quantitative composition of the microbiome is determined in infancy and varies depending on the food consumed. Studies show that the species composition of bacteria changes with age and the diversity of the microbiota decreases greatly in old age. First of all, such a shift in the composition of the microflora affects the state of the immune system, and affects the intensity of age-dependent chronic inflammation.
Microbiome
[1] Ravinder Nagpal “Gut microbiome and aging: Physiological and mechanistic insights.”
This is a set of environmental factors that affect the regulation of genes and the individual development of organisms. The exposome, unlike the genome, transcriptome and other "omixes", is not an internal parameter. Taking into account the contribution of the environment is necessary to predict the phenotype of the organism, as well as the selection of a personalized treatment strategy. Such an impact can be defined as a measure of all impacts on a person during life and how these impacts are related to health.[1]
Exposome
[1] Avraham Ebenstein et al. “New evidence on the impact of sustained exposure to air pollution on life expectancy from China’s Huai River Policy”
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