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Lesson 18
1.Theme: Section control on the section "Basis of medical genetics" 2.Aim: Determine the level of understanding and assimilation of knowledge in medical students (clinical) genetics, the role and importance of medical genetics in modern medicine and health care. 3.Tasks of teaching: - To identify the student's understanding of goals, objectives of medical genetics and its role, place and meaning in modern medicine and health care. - To estimate the level of knowledge and students’ understanding of separate sections of the studied material. - form the students' main task for the timely identification and referral to medical and genetic counseling of patients and their relatives. -to create students’ understanding of the main objectives on identification and the direction on medico-genetic consultation of patients and their relatives. - identify the student's ability to detect hereditary diseases. 4. Methods of teaching: combined method of teaching(conversation, solution of situational tasks. 5. The main themes: 5.1. Determination of chromosomal diseases in humans and their classification. 5.2. Autosomal syndromes. 5.3. Genetic syndromes. 5.6.Major clinical characteristics of chromosomal and genomic disease. 5.7. Diagnosis, prevention and treatment of human chromosomal diseases. 5.8. Identification of genetic diseases in humans and their classification 5.9. Types of inheritance of monogenic human diseases. Terms of M 5.10. Fermentopathy. Hemoglobin. Diseases of morphogenesis violation. 5.11. Etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of fermentopathy on the example of phenylketonuria 5.12. The etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of hemoglobin disorders, sickle-cell anemia as an example 5.13. The etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of morphogenesis disorders, as an example of Marfan syndrome. 5.14. Polygenic (multifactorial) diseases, especially manifestations, classification. 5.15. Mechanisms of development of polygenic diseases. 5.16. Associations of genetic markers with multifactorial diseases 5.17. Main methods of research of polygene diseases. 5.18. Clinical and genealogical method. Principles of tree family symbols and their meanings. 5.19. Cytogenetic method. Analysis and interpretation of karyotypes in different types of chromosomal diseases. 5.20. Biochemical methods, principles of diagnosis of inherited metabolic diseases. 5.21. Direct and indirect DNA diagnostic methods, principles and mechanisms of detection of gene mutations in hereditary diseases. Alpha 5.22. Definition of monogenic nonmendelian human diseases and their classification. 5.23. The etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of mitochondrial disease. Classification of mitochondrial disease. 5.24. The etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of 5.25. The etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of trinucleotide diseases. 5.26. The etiology, pathogenesis, main clinical symptoms, diagnosis, treatment and prevention of prevention of prion diseases. 5.27. Prevention of hereditary diseases. Primary and secondary prevention. 5.28. CIM is the basis for primary prevention of hereditary diseases. Retrospective and prospective counseling. 5.29. CIM Indications. Stages of CIM. 5.30. Genetic prediction. Methods for calculating genetic risk: a) in diseases with AD-type inheritance b) in diseases of the AR-type inheritance c) in diseases with X-linked dominant inheritance d) in diseases with X-linked recessive mode of inheritance e) with chromosomal syndromes 5.31. Prenatal diagnosis. Invasive and noninvasive methods. 5.32. Preimplantational diagnosis. 5.33. Legal and ethical principles of conducting CIM (Article № 95. Code of the RK on people's health and the health care system. 2009). 5.34. The main methods of preventing hereditary diseases. 5.35. Early preclinical diagnosis of hereditary diseases. 5.36. Genetic screening: a massive, selective. Indications for implementation. 5.37. Preconceptional prevention, purpose and basic provisions. 5.38. Bioethical issues preventing hereditary diseases. 5.39. Basic principles of treatment of hereditary diseases (symptomatic, pathogenic, aetiological, surgical) 5.40. Methods of symptomatic therapy 5.41. The methods of pathogenetic therapy 5.42. Methods of etiologic therapy. Gene therapy as a method of correcting genetic defects. 5.43. Bioethical problems of gene therapy. 5.44. Predictive medicine, the definition and purpose. 5.45. Human gene and its features. 5.46. Predisposition genes, and their testing. 5.47. Genetic identification and genetic map of reproductive health. 5.48. Prospects of predictive medicine. 5.49. Passport-individual DNA data base. 5.50. The genetic passport- basis of predictive medicine. 5.51. Diseases and pathological conditions that are available for genetic testing. 5.52. Fundamentals of technology for biochip. 5.53. The principle of biological biochip operation. 5.54. The value of biochip in diagnosing human diseases. 5.55. Nanobiochips as the basis for the future of medicine. 5.56. Stem cells, determining, properties. 5.57. The use of stem cells in the treatment of human diseases. 5.58.Gene therapy and stem cells. 5.59.Mechanism of stem cells, problems and prospects of ceramics in medicine. 5.60. Herteditary gemoglabinopati and their causes. 5.61. Classification of gemaglobinopati. 5.62.Diagnosis and treatment of gemaglobinopati. 5.63.Characteristics and frequency of common genetic disease 5.64.Genetic mechanisms common gene diseases. 5.65. Types of gene diseases 5.66. Clinical manifestation, diagnosis and prevention of common genetic diseases. 5.67. Classification of hereditary diseases. 5.68. Modern methods of diagnostics and prophylaxis of hereditary diseases 5.69. Principle of treatment hereditary diseases.
6. Handout: test questions, tickets.
7. References: The main: 7.1. Bochkov NP Clinical genetics of M:, 2004 7.2. Genetics. Under Ivanov VI editor M:,2006, 7,3. I Ginter EK "Medical Genetics" M: 2003, 7.4. F Zhimulev "General and Molecular Genetics", Novosibirsk, 7.5. Mushkambarov N. "Molecular Biology" M: 2003 7.6.Fuller, DM, Dennis Shilds.Molekulyarnaya cell biology. Guidelines for vrachey.M: Bean Press, 2006, 7.7 Medical Biology and Genetics. Textbook edited by prof. Kuandykova EW, Almaty, 2004 - / pages 179-184. 7.8. Kuandykov EW Fundamentals of general and medical genetics. Lectures, Almaty/2010, pp. 192-200. Additional: F.Ayala, J. Kayger. "Modern genetics" M: World of 1988
8. Control: 8.1. Rating of competences - knowledge 8.1.1. Quiz on topics. 8.1.2.Tests. 12variants (each variant -10questions). Дата добавления: 2015-09-18 | Просмотры: 625 | Нарушение авторских прав |