The role of genetics in human health

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The role of genetics in human health

I. The fundamental foundations of genetics and health

1. Human genome: Life map.
   • Determination of the genome as a complete set of genetic instructions of the body encoded in DNA.
   • DNA structure: double spiral, nucleotides (adenin, thyme, guanine, cytosine), phosphate skeleton and sugar.
   • Organization of the genome: genes, non -dodging areas, regulatory elements.
   • The size of the human genome and its comparison with the genomes of other organisms.
   • The importance of the “human genome” project and its contribution to the understanding of the genetics of health.
2. Genes: units of heredity.
   • Determination of the gene as a section of DNA encoding a certain protein or functional RNA.
   • Gene structure: promoter encoding the sequence (exons and intron), terminator.
   • Transcription process: RNA synthesis based on matrix.
   • Translation process: protein synthesis based on RNA matrix (ribosomes, tRNA, amino acids).
   • The role of genes in determining the phenotype (observed features) of the body.
3. Chromosomes: DNA organization.
   • Determination of chromosome as a structure containing DNA and proteins (histones).
   • The structure of the chromosome: center, telomeres, shoulders (short and long).
   • The amount of chromosomes in human cells (46 or 23 pairs).
   • Types of chromosomes: autosomes (22 pairs) and sex chromosomes (x and y).
   • Cariote: visual representation of the chromosomes of the body.
4. Genetic variability: the source of individuality.
   • The definition of genetic variability as differences in the sequence of DNA between different individuals.
   • Types of genetic variability: single -okleotide polymorphisms (SNP), inserts/deeds (Indians), changes in the number of copies (CNV), microsatellites.
   • SNP as the most common type of genetic variability.
   • Mutations: changes in DNA that can occur spontaneously or under the influence of external factors.
   • The role of genetic variability in evolution and adaptation.
5. Epigenetics: regulation of genes without changing the sequence of DNA.
   • Determination of epigenetics as changes in the expression of genes not related to a change in the sequence of DNA.
   • Mechanisms of epigenetic regulation: DNA methylation, modification of histones, non -proper RNA.
   • The influence of epigenetic changes on development, aging and illness.
   • The heredity of epigenetic changes: the transmission of information on the expression of genes from generation to generation.
   • The role of epigenetics in adaptation to the environment.

II. Genetic diseases: causes and mechanisms

1. Monogenic diseases: a consequence of mutations in one gene.
   • Determination of monogenic diseases as diseases caused by mutation in one gene.
   • Types of inheritance of monogenic diseases: autosomal dominant, autosomal recessive, x-linked dominant, x-linked recessive, y-linked.
   • Examples of autosomal dominant diseases: Huntington disease, type 1 neurofibromatosis.
   • Examples of autosomal recessive diseases: cystic fibrosis, phenylketonuria, sickle cell anemia.
   • Examples of X-linked recessive diseases: hemophilia, colortonism, muscle dystrophy of Duchenne.
   • Examples of X-linked dominant diseases: Retta syndrome.
   • The mechanisms through which mutation in the gene leads to the disease: impaired protein structure, impaired protein function, lack of protein.
2. Chromosomal diseases: a consequence of changes in the number or structure of chromosomes.
   • Determination of chromosomal diseases as diseases caused by changes in the number or structure of chromosomes.
   • Anneuploidia: the presence of an abnormal number of chromosomes (trisomy, monosomia).
   • Structural abnormalities of chromosomes: deletions, duplications, inversions, translocations.
   • Examples of trisomies: Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13).
   • Primerias of Monosomi: Syndrome Turner (Monosomia X).
   • Examples of structural abnormalities of chromosomes: a cat’s scream syndrome (a dealeure of a short shoulder 5 chromosome), Dee Georgi syndrome (Deletei 22q11.2).
   • The mechanisms through which changes in the number or structure of chromosomes lead to the disease: imbalance of the gene dose, impaired genes, impaired development.
3. Multifactorial diseases: interaction of genes and the environment.
   • Determination of multifactorial diseases as diseases caused by the interaction of genetic factors and environmental factors.
   • Examples of multifactorial diseases: cardiovascular diseases, type 2 diabetes, cancer, asthma, autoimmune diseases (rheumatoid arthritis, multiple sclerosis).
   • Genetic predisposition to multifactorial diseases: the presence of genes that increase the risk of developing the disease.
   • Environmental factors that can affect the development of multifactorial diseases: diet, lifestyle, exposure to toxic substances, infections.
   • The role of genetic studies in the detection of genes associated with multifactorial diseases (studies of genome associations, GWAS).
4. Mitochondrial diseases: a consequence of mutations in mitochondrial DNA.
   • Determination of mitochondrial diseases as diseases caused by mutations in mitochondrial DNA (MTDNK).
   • Features of inheritance of mitochondrial diseases: are transmitted only from the mother.
   • Examples of mitochondrial diseases: MELAS syndrome, Merrf syndrome, lei syndrome.
   • Mitochondria: organelles responsible for the production of energy in a cage (ATP).
   • The influence of mutations in MTDNK on the function of mitochondria and energy metabolism.
   • Clinical manifestations of mitochondrial diseases: damage to the nervous system, muscles, heart, endocrine system.
5. Immunogenetics: genes of the immune system and their role in health.
   • Genes of the main complex of histocompatibility (MHC): role in recognizing antigens and activating the immune response.
   • Immunoglobulin genes (antibodies): role in the neutralization of pathogens.
   • T-cell receptors: role in the recognition of antigens and activation of T cells.
   • Associations of genes of the immune system with autoimmune diseases (rheumatoid arthritis, multiple sclerosis, type 1 diabetes).
   • The role of immunogenetics in transplantation of organs and tissues: the selection of a donor and a recipient of compatibility of the MHC genes.

III. Genetic testing: tools for risk assessment and diagnostics

1. Types of genetic testing.
   • Diagnostic testing: confirmation or exclusion of a diagnosis of a genetic disease in a patient with symptoms.
   • Presumptomatic testing: identifying a predisposition to a disease that can develop in the future (for example, Huntington disease).
   • Safe: determination whether a person is a carrier of a mutation that can be transferred to his children.
   • Prenatal testing: diagnosis of genetic diseases in the fetus during pregnancy.
   • Neonatal screening: identification of genetic diseases in newborns for the early start of treatment.
   • Pharmacogenetic testing: determining the influence of genetic options on the response to drugs.
   • Distribution to diseases (risk-scurry): assessment of the genetic risk of developing multifactorial diseases.
2. Genetic testing methods.
   • Cytogenetic analysis: a study of chromosomes under a microscope (cariotrapy, fish).
   • PCR (polymerase chain reaction): amplification (multiplication) of a particular DNA section.
   • DNA sequencing: determining the sequence of nucleotides in DNA (sequencing by Senger, NGS).
   • Microting analysis (DNA micro): identification of changes among copies of genes (CNV).
   • MLPA (Multiplex Ligation-Dependent Probe Amplification): quantitative DNA analysis to detect deletions and duplications.
3. The use of genetic testing in medicine.
   • Diagnosis of genetic diseases: confirmation of the diagnosis and determination of the type of mutation.
   • Assessment of the risk of developing diseases: identifying people with an increased risk of developing genetic diseases.
   • Family planning: providing information about the risk of a child with a genetic disease.
   • Personalized medicine: the selection of drugs and doses based on the genetic profile of the patient.
   • Early diagnosis and prevention of diseases: identification of people with a predisposition to diseases for the early start of preventive measures.
4. Ethical and social aspects of genetic testing.
   • Confidentiality of genetic information: Protection of genetic data from unauthorized access.
   • Informed consent: obtaining the patient’s consent to genetic testing after providing complete information about the goals, risks and advantages of testing.
   • Genetic discrimination: discrimination of people based on their genetic status (for example, in the field of insurance or employment).
   • Psychological effects of genetic testing: anxiety, depression, guilt.
   • The availability of genetic testing: providing equal access to genetic testing for all people.
5. Interpretation of genetic testing results.
   • Genes: pathogenic, probably pathogenic, uncertain significance, probably benign, benign.
   • The clinical meaning of genetic options: connection with certain diseases or signs.
   • The context of genetic testing: the causes of testing, family history, the results of other studies.
   • Consultation of genetics: interpretation of genetic testing results and providing recommendations on further actions.
   • Genetic testing restrictions: not all genetic options are known, not all diseases can be predicted using genetic testing.

IV. Gene therapy: new horizons in the treatment of genetic diseases

1. Principles of genetic therapy.
   • Determination of genetic therapy as a method of treating diseases by introducing genetic material into the patient’s cells.
   • The purpose of gene therapy: correction of a defective gene, adding a new gene or blocking the activity of a harmful gene.
   • Vectors for genetic therapy: viruses (adenoassed viruses, adenoviruses, retroviruses), non -viral vectors (liposomes, plasmids).
   • Types of genetic therapy:
     • EX Vivo Gene therapy: Genetic modification of cells outside the body, followed by transplantation back to the patient.
     • In vivo gene therapy: the introduction of genetic material directly into the patient’s body.
   • Genes delivery systems: specific aiming of vectors on certain cells or tissues.
2. Types of genetic therapy.
   • Genes replacement: introduction of a copy of a normal gene for replacing a defective gene.
   • Genes editing: using genes editing technologies (CRISPR-CAS9) to correct a defective gene directly in DNA.
   • Inhibiting genes: blocking the activity of the gene, which causes the disease (use of antislayed oligonucleotides, RNA interference).
   • Adding genes: the introduction of a new gene to obtain a new function or strengthen the existing function.
3. Clinical trials and approved genetic therapy.
   • The history of genetic therapy development: the first clinical trials, failures and successes.
   • Examples of approved genetic therapy:
     • Glybera: Treatment deficiency lipoproteinlipase.
     • Zolgensma: Treatment of spinal muscle atrophy.
     • Luxturna: treatment of hereditary retinal dystrophy.
   • Clinical trials of genetic therapy for various diseases: hemophilia, cystic fibrosis, sickle cell anemia, Parkinson’s disease, cancer.
4. Problems and prospects of genetic therapy.
   • Immune response to genetic therapy vectors: activation of the immune system and rejection of transgenic cells.
   • The toxicity of genetic therapy vectors: damage to cells and tissues.
   • Nonspecific aiming of genetic therapy vectors: the introduction of genes are not into those cells or tissues.
   • The cost of gene therapy: High cost of treatment.
   • The ethics of genetic therapy: modification of the human genome.
   • Prospects for genetic therapy: development of new and more effective vectors, improving genes delivery systems, reducing the cost of treatment, expanding the use of genetic therapy for the treatment of various diseases.
5. Genes editing technologies (CRISPR-CAS9).
   • The principle of operation of the CRISPR-CAS9 system: the use of CAS9 protein for cutting DNA in a certain place directed by RNA.
   • The use of CRISPR-CAS9 for editing genes in human cells: correcting defective genes, turning off genes, adding genes.
   • Ethical and social issues related to the use of CRISPR-CAS9: modification of the embryo line, improving a person.
   • Prospects for the use of CRISPR-CAS9 for the treatment of genetic diseases: development of new and more effective treatment methods.

V. Genetics and prevention of diseases

1. Genetic predisposition to diseases and lifestyle.
   • The interaction of genes and the environment in the development of multifactorial diseases.
   • The influence of lifestyle (diet, physical activity, smoking, alcohol use) on the expression of genes and the risk of developing diseases.
   • The role of genetic testing in the identification of people with an increased risk of development of diseases associated with the way of life.
   • Personalized recommendations for a change in lifestyle based on a genetic profile.
   • Examples: the influence of genetic options on the metabolism of caffeine, lactose, alcohol; The influence of genetic options on the risk of type 2 diabetes with improper nutrition.
2. Nutrition and genome (nutrigenomy).
   • The definition of nutritigenomics as a science that studies the interaction of genes and nutrients.
   • The effect of nutrients on the expression of genes: vitamins, minerals, polyunsaturated fatty acids, phytochemicals.
   • Genetic variants affecting the metabolism of nutrients: variants of genes encoding vitamins, minerals, lipids metabolism enzymes.
   • Personalized recommendations for nutrition based on a genetic profile: determining the optimal consumption of nutrients to reduce the risk of developing diseases.
   • Examples: the effect of genetic options on the need for folic acid, vitamin D, omega-3 fatty acids.
3. Pharmacogenetics: an individual approach to drug therapy.
   • Determination of pharmacogenetics as a science that studies the effect of genetic options on the response on drugs.
   • Genes encoding drug metabolism enzymes: CYP450, UGT.
   • Genes encoding drugs: SLC, ABC.
   • Genes encoding drugs: receptors, enzymes.
   • The influence of genetic options on pharmacokinetics (absorption, distribution, metabolism, excretion) and pharmacodynamics (action) of drugs.
   • The use of pharmacogenetic testing for the selection of drugs and doses: reducing the risk of side effects, increasing the effectiveness of treatment.
   • Examples: the influence of genetic options on the effectiveness of warfarin, clopidogen, statins.
4. Genetic consultation: Assistance in decision -making.
   • The role of a genetic consultant: providing information about genetic diseases, genetic testing, inheritance risks, prevention and treatment opportunities.
   • Indications for genetic consultation: family history of genetic diseases, infertility, repeated miscarriages, the birth of a child with congenital malformations, the desire to conduct genetic testing.
   • Stages of genetic consultation: collection of family history, risk assessment, discussion of testing options, interpretation of results, providing recommendations.
   • Psychological support: assistance to patients and their families in adaptation to information about genetic diseases.
5. Newborns screening: early detection of genetic diseases.
   • The goal of screening of newborns: the identification of genetic diseases that can be treated in the early stages to prevent severe complications.
   • Newborns screening methods: determining the level of certain substances in the blood, genetic testing.
   • Examples of diseases detected during the screening of newborns: phenylketonuria, congenital hypothyroidism, galactocuria, cystic fibrosis.
   • Advantages of early detection and treatment of genetic diseases: preventing developmental delay, mental retardation, disability, death.
   • Ethical issues related to the screening of newborns: informed consent, confidentiality of genetic information, the use of screening results.

VI. Prospects for the development of genetics in medicine

1. Development of DNA sequencing technologies (NEXT-GENERATION SEQUENCING, NGS).
   • The advantages of NGS compared to traditional sequencing methods: high throughput, low cost, the ability to sequenize the entire genome or exom.
   • The use of NGS in the diagnosis of genetic diseases, the identification of new genes associated with diseases, the development of personalized treatment methods.
   • NGS development prospects: increase in throughput, reduction in cost, increase in accuracy, development of new methods of data analysis.
2. Big data (Big Data) and bioinformatics.
   • The use of large arrays of genetic data to identify patterns and connections between genes and diseases.
   • Development of machine learning algorithms for predicting the risk of diseases, determining the effectiveness of drugs, identifying new targets for therapy.
   • The need to develop infrastructure for the storage, processing and analysis of large arrays of genetic data.
   • Ethical issues related to the use of big data: confidentiality of genetic information, the bias of machine learning algorithms.
3. Development of new methods of genetic therapy.
   • Improving vectors for genetic therapy: development of vectors with high efficiency, low toxicity, specific aiming on certain cells or tissues.
   • Development of new genes delivery systems: the use of nanoparticles, exosos, other innovative technologies for the delivery of genetic material to cells.
   • Expanding the use of genetic therapy for the treatment of various diseases: the development of genetic therapy for the treatment of multifactorial diseases, cancer, infectious diseases.
4. Integration of genetics into clinical practice.
   • Expanding the use of genetic testing in various fields of medicine: oncology, cardiology, neurology, endocrinology.
   • Teaching doctors with the basics of genetics: increasing the level of knowledge of doctors about genetic diseases, genetic testing, genetic therapy.
   • Development of clinical recommendations for the use of genetic information in decision -making on the diagnosis, treatment and prevention of diseases.
   • Creation of genetic consultation centers: ensuring access to genetic consultation for all people in need of genetic information.
5. Ethical and social issues of the development of genetics.
   • Genetic discrimination: protect people from discrimination based on their genetic status.
   • Confidentiality of genetic information: ensuring the protection of genetic data from unauthorized access.
   • The availability of genetic technologies: ensuring equal access to genetic testing and gene therapy for all people, regardless of their economic status.
   • Regulation of genetic technologies: Development of legislation governing the use of genetic technologies to ensure their safe and ethical application.
   • Public discussion of genetic technologies: Improving the public awareness of genetics and genetic technologies so that people can make informed decisions about their health and future.