The influence of genes on human health: myths and reality

The influence of genes on human health: myths and reality

Chapter 1: The Fundamentals of Human Genetics and its Health significance

1. 1. Human genome: the leadership of the body
   • The human genome is a complete set of genetic information encoded in DNA and contained in cells. It consists of approximately 20,000-25,000 genes located 23 pairs of chromosomes (22 pairs by autosom and one pair of sex chromosomes).
   • Genes serve as instructions for the synthesis of proteins that perform various functions in the body, ranging from the construction of cells and tissues to the regulation of metabolism and immune system.
   • Variations in the genes called alleles determine individual differences between people, including eye color, growth, predisposition to certain diseases.
   • Despite the fact that the human genome is deciphered, an understanding of the functions of all genes and their interaction remains an active field of research.
2. 2. The role of DNA, RNA and proteins in the implementation of genetic information
   • DNA (deoxyribonucleic acid) is a carrier of genetic information. Its structure is a double spiral consisting of nucleotides connected to each other. Nucleotides contain nitrogenous bases (adenin, guanine, cytosine and thyme), sugar (deoxybosis) and phosphate group.
   • RNA (ribonucleic acid) plays an important role in the process of protein synthesis. There are various types of RNA, including MRNA (matrix RNA), TRNA (transport RNA) and RRNA (riboson RNA).
   • The transcription process converts the information encoded in the DNA to MRNU. Then the MRNA moves from the core of the cell to the cytoplasm where the broadcast occurs.
   • Broadcast is a process during which ribosomes use MRNA as a template for protein synthesis. TRNA delivers amino acids to ribosomes in accordance with MRNA codons.
   • Proteins perform various functions in the body, including catalysis of biochemical reactions (enzymes), transport of substances (hemoglobin), protection against infections (antibodies), regulation of genes expression (transcription factors).
3. 3. Heredity: Transfer of genetic information from parents to descendants
   • During sexual reproduction, descendants receive genetic information from both parents.
   • Each parent conveys one set of chromosomes containing alleles of genes.
   • During fertilization, genetic information from both parents is combined, forming a zygot, which contains a complete genome.
   • Signs and characteristics of descendants are determined by the interaction of alleles received from parents.
   • Some alleles are dominant, that is, they appear in the phenotype, even if they are present only in one copy. Other alleles are recessive, that is, they appear in the phenotype only if they are present in two copies.
   • Genetic diseases can be inherited from parents to descendants. The probability of inheritance depends on the type of inheritance (autosomal dominant, autosomal-recessive, x-linked).
4. 4. Mutations: sources of genetic variability and their consequences for health
   • Mutations are changes in the DNA sequence. They can occur spontaneously or under the influence of environmental factors (for example, radiation, chemicals).
   • Mutations can be accurate (replacement of one nucleotide), deeds (removal of nucleotides), inersions (nucleotide insertion), inversions (a revolution of the nucleotide sequence) or translocations (moving fragments of chromosomes).
   • Most mutations are neutral and have no effect on health. However, some mutations can be harmful and lead to the development of diseases.
   • Mutations in genes encoding important proteins can disrupt their function and cause various diseases, such as cystic fibrosis, phenylketonuria, and sickle cell anemia.
   • Mutations in genes that control the cell cycle can lead to cancer.
   • Mutations that occur in germ cells (gametes) can be transmitted to descendants.
5. 5. Epigenetics: the influence of the environment on the expression of genes
   • Epigenetics studies changes in genes expression that are not associated with changes in the sequence of DNA.
   • Epigenetic mechanisms include DNA methylation, histone modification and micrord regulation.
   • DNA methylation is the addition of a methyl group to cytosine in DNA. Methyling usually leads to the suppression of the gene expression.
   • The modification of histones is a change in the structure of histones, proteins around which DNA is wound. Histonian modifications can lead to activation or suppression of genes expression.
   • Microrm is small RNA molecules that can be associated with MRNA and regulate its broadcast.
   • Environmental factors, such as diet, stress, toxins, can affect the epigenetic mechanisms and, therefore, to the expression of genes.
   • Epigenetic changes can be transmitted from parents to descendants, which can affect the health of several generations.

Chapter 2: Genetic predisposition to diseases: Facts and errors

2. 1. Multifactorial diseases: interaction of genes and the environment
   • Many common diseases, such as cardiovascular diseases, diabetes, cancer, are multifactorial, that is, their development is due to the interaction of genetic factors and environmental factors.
   • A genetic predisposition to multifactorial diseases is determined by the presence of certain genes alleles, which increase the risk of the development of the disease.
   • However, the presence of these alleles does not mean that a person will necessarily get sick. Environmental factors, such as diet, lifestyle, exposure to toxins, can significantly affect the risk of developing the disease.
   • For example, a person with a genetic predisposition to type 2 diabetes can reduce the risk of developing the disease, adhering to a healthy diet and doing physical exercises.
3. 2. The role of genetic markers in assessing the risk of diseases
   • Genetic markers are variations in DNA, which are associated with an increased or reduced risk of developing a certain disease.
   • Genetic tests can be used to identify these markers and assess the genetic predisposition to diseases.
   • However, the results of genetic tests are not a final diagnosis. They only indicate an increased or reduced risk of developing the disease.
   • It is important to consider that not only genetic factors, but also environmental factors affect the risk of the development of the disease.
4. 3. Family history as a tool for assessing genetic risk
   • Family history is information about the health of relatives. It can be useful for assessing the genetic risk of developing diseases.
   • If the family has cases of a certain disease, this may indicate the presence of a genetic predisposition to this disease.
   • However, the lack of cases of the disease in the family does not exclude the presence of a genetic predisposition. The disease can be caused by a spontaneous mutation or recessive allele, which is not manifested in parents.
5. 4. Myths about genetic determinism: “Gene of Fate” and predestination
   • There is a common misconception that genes completely determine our fate and health. This is not true.
   • Genes only create a predisposition to certain diseases. Environmental factors play an important role in the implementation of this predisposition.
   • There is no “Gene of Fate” that determines our life.
   • We can influence our health, making conscious decisions about our lifestyle, diet, physical activity.
6. 5. Ethical aspects of genetic testing: confidentiality, discrimination, interpretation of results
   • Genetic testing raises important ethical issues related to confidentiality, discrimination and interpretation of the results.
   • The results of genetic tests should be confidential and should not be used to discriminate against people.
   • It is important that people understand that the results of genetic tests are not a final diagnosis and require the correct interpretation.
   • Genetic counseling can help people understand the results of genetic tests and make conscious decisions about their health.

Chapter 3: Genetic diseases: types, causes, diagnosis and treatment

7. 1. Classification of genetic diseases: chromosomal, monogenic, multifactorial
   • Genetic diseases can be classified into three main types: chromosomal, monogenic and multifactorial.
   • Chromosomal diseases arise as a result of changes in the structure or quantity of chromosomes. Examples: Down syndrome (trisomy according to the 21st chromosome), Turner syndrome (monosomy in the X-chromosome).
   • Monogenic diseases are caused by mutations in one gene. Examples: cystic fibrosis, phenylketonuria, sickle cell anemia.
   • Multifactorial diseases are caused by the interaction of genetic factors and environmental factors. Examples: cardiovascular diseases, diabetes, cancer.
8. 2. Causes of genetic diseases: mutations, chromosomal aberrations, epigenetic disorders
   • The main cause of genetic diseases is mutations in genes. Mutations can occur spontaneously or under the influence of environmental factors.
   • Chromosomal aberrations, such as deletions, duplications, inversions and translocations, can also lead to the development of genetic diseases.
   • Epigenetic disorders, such as changes in DNA methylation and modification of histones, can also play a role in the development of some genetic diseases.
9. 3. Diagnosis of genetic diseases: prenatal and postnatal diagnostics
   • Diagnosis of genetic diseases can be carried out prenatally (before the birth of a child) or postnatally (after the birth of a child).
   • Prenatal diagnosis includes amniocentesis, choriona biopsy and non -invasive prenatal test (NIPT).
   • Amniocentesis is a procedure in which an example of an amniotic fluid surrounding the fetus is taken for the analysis of chromosomes and DNA of the fetus.
   • Chorion’s biopsy is a procedure in which a sample of choriona (placenta) is taken for the analysis of chromosomes and fetal DNA.
   • NIPT is a non -invasive test in which the fetal DNA is analyzed, circulating in the blood of the mother.
   • Postnatal diagnosis includes clinical examination, genetic testing and biochemical tests.
10. 4. Methods of treatment of genetic diseases: genetic therapy, enzymatic therapy, symptomatic treatment
    • The treatment of genetic diseases depends on the type of disease and its severity.
    • Gene therapy is a treatment method in which a healthy gene is introduced into the body cells to replace a defective gene.
    • Enzymatic therapy is a treatment method in which the patient is introduced by an enzyme that he lacks due to a genetic defect.
    • Symptomatic treatment is aimed at alleviating the symptoms of the disease.
11. 5. Examples of common genetic diseases and their prevention strategies
    • Examples of common genetic diseases include cystic fibrosis, phenylketonuria, sickle cell anemia, Down syndrome, Turner syndrome.
    • Prevention of genetic diseases includes genetic counseling, prenatal diagnosis and screening of newborns.
    • Genetic counseling can help pairs evaluate the risk of a child with a genetic disease and make conscious decisions on family planning.
    • Prenatal diagnosis allows you to identify genetic diseases in the fetus before the birth of a child.
    • Screening of newborns allows you to identify genetic diseases in newborn children at an early stage, which allows you to start treatment as early as possible.

Chapter 4: Cancer Genetics: from mutations to targeted therapy

12. 1. The role of genetic mutations in the development of cancer: oncogenes and tumors
    • Cancer is a genetic disease that develops as a result of the accumulation of genetic mutations in cells.
    • There are two main types of genes that play a role in the development of cancer: oncogenes and tumor-spress genes.
    • Oncogenes are genes that contribute to the growth and division of cells. Mutations in oncogenes can lead to their hyperactivity, which contributes to uncontrolled cell growth and cancer development.
    • Tumor -soup genes are genes that control the cell cycle and prevent uncontrolled cell growth. Mutations in tumor-soup genes can lead to loss of their function, which contributes to the development of cancer.
13. 2. Hereditary cancer: transfer of mutations from parents to descendants
    • Some types of cancer are hereditary, that is, mutations predisposing to cancer are transmitted from parents to descendants.
    • Hereditary cancer is about 5-10% of all cases of cancer.
    • Examples of hereditary cancers include breast cancer, ovarian cancer, colon cancer, prostate cancer.
    • Genetic testing can be used to identify mutations predisposing to hereditary cancer.
14. 3. Somatic mutations: acquisition of mutations during life
    • Most types of cancer are not hereditary, but develop as a result of somatic mutations that occur throughout life under the influence of environmental factors, such as smoking, radiation, chemicals.
    • Somatic mutations occur in body cells, and not in the germ cells, so they are not transmitted to descendants.
15. 4. Targeted therapy: aiming on the genetic characteristics of the tumor
    • Targeted therapy is a method of treating cancer, which is aimed at specific genetic characteristics of the tumor.
    • Targeted drugs block the growth and spread of cancer cells without damaging healthy cells.
    • Targeted therapy can be more effective and less toxic than traditional chemotherapy.
    • Examples of targeted drugs include Tyrosinkinase inhibitors, MTOR inhibitors, monoclonal antibodies.
16. 5. Immunotherapy: activation of the immune system to combat cancer
    • Immunotherapy is a method of treating cancer, which activates the immune system to combat cancer cells.
    • Immunotherapeutic drugs help the immune system recognize and destroy cancer cells.
    • Immunotherapy can be effective in the treatment of various types of cancer, including lung cancer, skin cancer, and kidney cancer.

Chapter 5: Personalized medicine: an individual approach to treatment based on genetic information

17. 1. The concept of personalized medicine: taking into account the genetic characteristics of the patient
    • Personalized medicine is an approach to treatment, which takes into account the genetic characteristics of the patient to select the most effective and safe treatment.
    • Personalized medicine is aimed at choosing a treatment that will be the most effective for a particular patient, taking into account his genetic predisposition, metabolism of drugs, and features of the immune system.
18. 2. Pharmacogenetics: the effect of genes on the metabolism of drugs
    • Pharmacogenetics studies the effect of genes on the metabolism of drugs.
    • Genes encoding enzymes involved in the metabolism of drugs can have various alleles that affect the rate of drug metabolism.
    • In people with certain alleles, drugs can be metabolized too quickly or too slowly, which can lead to ineffective treatment or the development of side effects.
    • Pharmacogenetic testing can help doctors choose the correct dose of medicine for a particular patient, taking into account his genetic characteristics.
19. 3. Genomic sequencing: obtaining a complete genetic picture of the patient
    • Genomic sequencing is a method that allows you to determine the full sequence of the patient’s DNA.
    • Genomic sequencing can be used to detect genetic mutations that predispose to diseases, affect the metabolism of drugs, or determine the features of the immune system.
20. 4. The use of personalized medicine in various fields of healthcare: oncology, cardiology, neurology
    • Personalized medicine finds use in various areas of healthcare, including oncology, cardiology, and neurology.
    • In oncology, personalized medicine is used to select targeted drugs that are aimed at specific genetic characteristics of the tumor.
    • In cardiology, personalized medicine is used to assess the risk of developing cardiovascular diseases and the selection of drugs, which will be the most effective for a particular patient.
    • In neurology, personalized medicine is used for the diagnosis and treatment of neurological diseases, such as Alzheimer’s disease, Parkinson’s disease, epilepsy.
21. 5. Prospects for the development of personalized medicine: artificial intelligence, big data, biomarkers
    • Personalized medicine has great development prospects in the future.
    • Artificial intelligence and big data are used to analyze genomic data and identify patterns that can help in the development of new methods of diagnosis and treatment.
    • Biomarkers are molecules that can be used to diagnose diseases, assess the risk of developing diseases, monitor the effectiveness of treatment.

Chapter 6: Genetic Consulting: Assistance in making informed health decisions

22. 1. Objectives and objectives of genetic counseling: risk assessment, providing information, support
    • Genetic counseling is a process that helps people understand the genetic aspects of their health and make informed decisions on family planning, disease prevention, and treatment.
    • The goals of genetic counseling include an assessment of genetic risk, providing information about genetic diseases, discussing diagnostic and treatment options, and emotional support.
23. 2. Who needs genetic counseling: family history, pregnancy, infertility
    • Genetic counseling is recommended for people who have a family history of genetic diseases who plan pregnancy, which have problems with infertility.
    • Genetic counseling can help pairs evaluate the risk of a child with a genetic disease and make conscious decisions on family planning.
    • Genetic counseling can help people with infertility to identify genetic causes of infertility and choose optimal methods of treatment.
24. 3. The process of genetic counseling: anamnesis collection, genealogical tree, genetic testing
    • The process of genetic counseling includes the collection of an anamnesis, the compilation of the genealogical tree, and the conduct of genetic testing.
    • The genetic consultant collects information about the health of the patient and his relatives, draws up a genealogical tree to assess the risk of genetic diseases.
    • In some cases, genetic testing can be recommended to detect genetic mutations.
25. 4. Interpretation of genetic testing results: Family health and planning meaning
    • The interpretation of the results of genetic testing can be complex and requires special knowledge.
    • The genetic consultant helps patients understand the results of genetic testing and evaluate their importance to health and family planning.
26. 5. Ethical issues of genetic counseling: confidentiality, autonomy, informed consent
    • Genetic counseling raises important ethical issues related to confidentiality, autonomy and informed consent.
    • The information received during genetic counseling should be confidential and should not be transmitted to third parties without the consent of the patient.
    • Patients have the right to make autonomous decisions on their health and family planning.
    • Patients should give informed consent to the conduct of genetic testing and the use of genetic testing results.

Chapter 7: Myths and reality about genetics: we dispel the delusions and reinforce the facts

27. 1. Myth: “If I have no genetic diseases in my family, then I should not worry”
    • Reality: the lack of genetic diseases in a family history does not exclude the possibility that you are a carrier of a recessive gene or you have a spontaneous mutation. Genetic counseling and testing can help assess the risk.
28. 2. Myth: “Genetic tests give 100% accurate health forecast”
    • Reality: Genetic tests evaluate the risk of developing certain diseases, but do not give an absolutely accurate forecast. The development of most diseases is affected by both genetic and environmental factors.
29. 3. Myth: “Gene therapy is fantasy and is not used in reality”
    • Reality: Gene therapy is a real and actively developing method of treating genetic diseases. Currently, there are a number of approved genetotherapeutic drugs used to treat certain diseases.
30. 4. Myth: “Genetics defines everything: character, intelligence, inclinations”
    • Reality: Genetics affects many aspects of our life, but is not the only determining factor. Education, education, social environment and personal experience also play an important role in the formation of personality.
31. 5. Myth: “GMO is always bad and dangerous for health”
    • Reality: genetically modified organisms (GMOs) are strict security control before entering the market. Many studies have not revealed significant risks for human health from eating GMOs.
32. 6. Myth: “Genetic testing is very expensive and inaccessible to most people”
    • Reality: The cost of genetic testing is reduced every year. There are various types of tests that differ in price. Some tests are available in insurance or as part of research programs.
33. 7. Myth: “The results of genetic testing can be used against me (for example, an employer or an insurance company)” “
    • Reality: in many countries there are laws that protect genetic information from discrimination. For example, in the USA there is a law on non -genetic information (GINA).
34. 8. Myth: “If I have found a genetic predisposition to the disease, then nothing can be done”
    • Reality: Knowledge of a genetic predisposition to the disease allows you to take preventive measures: change your lifestyle, undergo regular examinations, and start treatment at an early stage.
35. 9. Myth: “Genetics is too complicated and incomprehensible”
    • Reality: knowledge of genetics is becoming more accessible to the general public. There are many resources that allow you to learn more about genetics and its effect on health.
36. 10. Myth: “All people are genetically the same”
    • Reality: despite the fact that the genomes of different people by 99.9% are identical, even small genetic differences can have a significant effect on health, predisposition to diseases and individual characteristics.

Chapter 8: The future of genetics and medicine: new horizons and challenges

37. 1. CRISPR-CAS9 technologies: Revolution in the editing of the genome
    • CRISPR -CAS9 is a genome editing technology that allows you to accurately and effectively change the DNA sequence in the cells.
    • CRISPR-CAS9 has a huge potential for the treatment of genetic diseases, the development of new methods of diagnosis and prevention of diseases.
38. 2. Synthetic biology: creation of new biological systems
    • Synthetic biology is a field of science that creates new biological systems and redesign existing biological systems.
    • Synthetic biology can be used to create new drugs, biofuels, biomaterials.
39. 3. Artificial intelligence in genetics: analysis of big data and identifying patterns
    • Artificial intelligence (AI) plays an increasingly important role in genetics. AI is used to analyze genomic data, identify patterns, develop new diagnostic and treatment methods.
    • AI can help in deciphering complex genetic interactions and predicting the risk of developing diseases.
40. 4. Genomal education: increasing the awareness of the company about genetics
    • It is necessary to increase the knowledge of the company about genetics so that people can make informed decisions about their health.
    • Genomal education should be available to everyone, from schoolchildren and ending with doctors and researchers.
41. 5. Ethical and social consequences of the development of genetic technologies: regulation and responsible use
    • The development of genetic technologies raises important ethical and social issues.
    • It is necessary to develop clear rules and standards for regulating the use of genetic technologies in order to guarantee their safe and responsible application.
42. 6. Creation of genetic data banks: storage and use of genetic information
    • The creation of genetic data banks can contribute to the development of genetic research and personalized medicine.
    • It is necessary to develop the rules for storing and using genetic information in order to ensure the confidentiality and protection of patients.
43. 7. The fight against genetic discrimination: ensuring equal rights for all people
    • It is necessary to deal with genetic discrimination in order to ensure equal rights for all people, regardless of their genetic status.
    • Laws on non -discrimination on genetic information should be strengthened and implemented in all countries.
44. 8. Development of new methods for the prevention of genetic diseases: early diagnosis and treatment
    • It is necessary to develop new methods for the prevention of genetic diseases, including early diagnosis and treatment.
    • The screening of newborns should be expanded to detect more genetic diseases at an early stage.
45. 9. Development of genetic therapy: Treatment of genetic diseases
    • Gene therapy is a promising method of treating genetic diseases. It is necessary to continue research in this area in order to develop effective and safe methods of genetic therapy for a wide range of diseases.
46. 10. Interdisciplinary approach to the study of genetics: Integration of knowledge from various fields of science
    • The study of genetics requires an interdisciplinary approach that integrates knowledge from various fields of science, such as biology, chemistry, medicine, computer science, ethics.
    • Only by combining the efforts of scientists from different fields, can we achieve significant progress in the understanding and treatment of genetic diseases.

Chapter 9: Genetics and lifestyle: how our habits affect the expression of genes

47. 1. Genes diet and expression: nutrigenomics and nutrigenetics
    • Diet has a significant impact on genes expression.
    • Nutrigenomy studies the effect of food components on genes expression.
    • Nutrigenetics studies the effect of genetic variations on the body’s reaction to food.
    • Various food components can activate or suppress the expression of genes involved in metabolism, immunity, inflammation.
    • For example, certain fatty acids can affect the expression of genes that regulate the level of cholesterol in the blood.
48. 2. Physical activity and expression of genes: the effect of training on metabolism and health
    • Physical activity also affects the expression of genes.
    • Training can activate the expression of genes involved in the metabolism of glucose and fats, which helps to improve metabolic health.
    • Physical activity can also affect the expression of genes that regulate muscle growth and bone density.
49. 3. Stress and expression of genes: the influence of chronic stress on the immune system and health
    • Chronic stress has a negative effect on the expression of genes.
    • Chronic stress can suppress the expression of genes involved in immune defense, which makes the body more susceptible to infections.
    • Stress can also affect the expression of genes that regulate mood and behavior.
50. 4. Sleep and expression of genes: the influence of lack of sleep on metabolism and cognitive functions
    • The lack of sleep also affects the expression of genes.
    • The lack of sleep can violate the expression of genes involved in the metabolism of glucose and the regulation of appetite, which increases the risk of diabetes and obesity.
    • The lack of sleep can also affect the expression of genes that regulate cognitive functions, such as memory and attention.
51. 5. Toxins and expression of genes: the effect of environmental pollution on health
    • The influence of toxins from the environment can also affect the expression of genes.
    • Pollutants of air, water and soil can cause epigenetic changes that affect the expression of genes involved in the development of various diseases, including cancer and cardiovascular diseases.

Chapter 10: Resources for studying genetics: where to look for reliable information

52. 1. Scientific magazines: Pubmed, Nature Genetics, American Journal of Human Genetics
    • Scientific journals are the main source of reliable information about genetics.
    • Pubmed is a database of scientific publications containing millions of articles on biology and medicine, including genetics.
    • Nature Genetics and American Journal of Human Genetics are leading scientific journals publishing original studies in the field of genetics.
53. 2. Online courses and educational platforms: Coursera, Edx, Khan Academy
    • Online courses and educational platforms provide access to knowledge about genetics for a wide audience.
    • Coursera, Edx, Khan Academy offer genetics developed by leading universities in the world.
54. 3. Scientific and popular books and articles: Available explanations of complex concepts
    • Scientific and popular books and articles allow you to understand the complex concepts of genetics in a simple and affordable language.
    • There are many popular science books and articles devoted to genetics and its impact on health.
55. 4. Websites of research institutes and universities: reliable information from experts
    • Websites of research institutes and universities contain reliable information about genetic studies conducted by experts in this field.
56. 5. Genetic diseases: support and information for patients and their families
    • Organizations engaged in genetic diseases provide support and information for patients and their families.
    • These organizations can help find a genetic consultant, gain access to genetic testing and learn about new treatment methods.

Chapter 11: Conclusion: Genetics – the key to understanding human health in the future

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