- •1.1. Overview
- •1.7. For information about the teachers:
- •1.8. Contact Information:
- •2. Program:
- •2.1. Introduction
- •2.2. The purpose of discipline:
- •2.3. Learning objectives:
- •2.4. Learning outcomes:
- •2.5.Prerequisites and Postdetails.
- •2.6. Summary of discipline:
- •2.7. Thematic plan of lectures, practical classes, srps and the siw Thematic plan of lectures
- •The practical classes thematic plan
- •Topical Plan for siwp
- •Thematic plan for independent student work
- •2.8. Tasks for independent students work : Topics for independent work of students:
- •2.9 Recommended literature :
- •In Russian :
- •In Kazakh:
- •In English :
- •2.11. Criteria and assessment rules:
- •The evaluation system of students' knowledge
- •Competence assessment in discipline "Molecular Biology and Medical Genetics," for 1 course students "General Medicine" specialty.
- •2.Check control
- •Presentation
- •Assessments grading scale
- •It is discussed and approved at faculty meeting from April "12" of 2012 y., the protocol No. 15
- •1. Theme: Implementation of heriditary information
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature:
- •6. Control questions (feedback):
- •3. Theses of lectures:
- •5. Literature
- •6. Control questions (feedback):
- •Specialty – general medicine
- •Year 2012
- •Theme: Introduction to Molecular Biology. Molecular Principles of Heredity
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Theme: Gene Molecular Biology
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •Theme: Realization of Hereditary Information. Dna Replication
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Problem
- •Theme: Transcription
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Literature:
- •Control:
- •7.1. Evaluation of competence – knowledge
- •Theme: Regulation of Gene Expression
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •7.1. Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •8.1.Control:
- •8.2. Rating of competence skills.
- •Theme: Genetic Apparatus of the Cell
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •7.1. Evaluation of competence – knowledge
- •7.2. Evaluation of competence – practical skills
- •Theme: Mitotic cycle, Mitosis, Meiosis
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •7.2.6. Solution of standard tasks:
- •1. Theme: Heredity. Types of inheritance. Independent monogenic inheritance of characteristics
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •6. Literature
- •7. Control:
- •7.1. Assessment of cognitive competences (knowledge):
- •7.2. Assessment of competence skills
- •7.3. Assessment of the skills of self-improvement:
- •1.Theme: Heredity. Types of inheritance. Monogenic traits linked inheritance
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •7.1. Assessment of cognitive competences (knowledge):
- •1. Theme: Effects of gene
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •6. Literature
- •7. Control:
- •7.1. Assessment of cognitive competences (knowledge)
- •7.2. Assessment of competence skills
- •1. Theme: Cellular mechanisms of ontogenetic development
- •2. Purpose:
- •3.Learning objectives:
- •4. Key questions the theme:
- •6. Literature:
- •7. Control:
- •7.1. Assessment of cognitive competence - knowledge
- •1.Theme: Genetic mechanisms of ontogenetic development
- •2. Purpose:
- •3. Learning objectives:
- •4. Key questions the theme:
- •6. Literature:
- •7. Control:
- •7.1. Assessment of cognitive competence - knowledge
- •7.2. Assessment of competence skills
- •1. Title: Basics of Genetics populyatsioinoy
- •6. Handout: Test questions. 7. Literature:
- •1.Theme: Fundamentals of Ecological Genetics
- •4. Key questions the theme:
- •6. Литература:
- •7. Control:
- •7.1. Assessment of competencies - knowledge.
- •Some environmental disease caused by
- •Air pollution
- •Contamination of drinking water
- •Intestinal infections
- •7.1.6. The decision of situational problems:
- •7.2. Assessment of competence - legal competence.
- •Theme: Fundamentals of Pharmacogenetics
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence – practical skills
- •4.Osnovnye topic questions:
- •Specialty-general medicine methodology recommendation for independent work teacher-led
- •8. Control:
- •8.1.3. Filling out tables:escribe the types of apoptosis
- •1. Theme: Variability not hereditary and hereditary.
- •3. Problems of training:
- •4. Main questions of a subject:
- •6. Literature:
- •7. Control:
- •7.1. An assessment of competences – knowledge.
- •7.2. An assessment of competences – legal competence.
- •3. Problems of training:
- •4. Main questions of a subject:
- •6. Literature:
- •7. Control:
- •7.1. An assessment of competences – knowledge.
- •3.Learning objectives:
- •5.Key questions the theme:
- •7. References:
- •8. Control:
- •3.Learning objectives:
- •5.Tasks related to:
- •6.Handout material: test-2 version with 10 questions
- •7.References:
- •7.3.Konichev a .S. Sevyastanova g.A. Molecular biology m. 2005 p.N 150-196.351-379.
- •7.4.Teylor d.Grin. N.Staut u.Biology m.2002 part 3 p.N 215-242.
- •8. Control:
- •8.1.1 Quiz on topics.
- •8.1.5.The solution to the problem of restriction of dna.
- •8.1.6. Working with the human genomic databases: problem solving.
- •8.3. Control:
- •1 . Title: Control of landmark forum: "Molecular Biology of the Cell"
- •7. References: The main
- •Theme: Human Hereditary Diseases. Chromosomal Diseases
- •Object:
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Impairment related to different types of human aneuploidy
- •Evaluation of competence – practical skills
- •Theme: Human Hereditary Diseases. MonogenicMendelian Diseases
- •Object:
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Evaluation of competence –communicative skills
- •Solution of situational problems
- •Title: Monogenic nonmendelian human disease
- •Aims: To generate in students the knowledge of nonmendelian monogenic human disease.
- •Learning objectives:
- •Tasks related to:
- •Handout material: test-2 version with 10 questions
- •References:
- •Control:
- •Theme: Polygenic (Multifactor) Human Diseases
- •Educational Tasks:
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Principal Questions of the Theme:
- •Literature:
- •Control:
- •Evaluation of competence – knowledge
- •Collection of anamnesis (determine the data that permit to reveal families with increased risk of birth of a child with hereditary pathology)
- •In case of chromosomal diseases In case of genic diseases
- •Title: Modern methods of prevention and treatment genetic diseases
- •Key questions the theme:
- •6. Handout: test questions.
- •7. References:
- •8.Control:
- •8.5.An algorithm preventing hereditary diseases, to determine the indications
- •6. Handout: test questions.
- •7. References:
- •8. Control:
- •1.Theme: Section control on the section "Basis of medical genetics"
- •3.Tasks of teaching:
- •7. References:
- •8. Control:
- •8.2. Rating of competence skills.
- •Title: Monogenic nonmendelian human disease
- •Learning objectives:
- •Tasks related to:
- •Handout material: test-2 version with 10 questions
- •References:
- •Control:
- •6. Handout: test questions.
- •7. References:
- •6. Handout: tests
- •7.Bibliography:
- •8. Control:
- •Title: Modern methods of prevention and treatment genetic diseases
- •Key questions the theme:
- •7. References:
- •8.Control:
- •8.5.An algorithm preventing hereditary diseases, to determine the indications
- •3.Tasks of teaching:
- •5. The main themes:
- •7. References:
- •8. Control:
- •8.2. Rating of competence skills.
- •1. Theme #1. Telomers. Telomerase activity
- •3. The tasks:
- •5. Performance criteria:
- •5. Performance criteria:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •1. Theme #5. Genomics, proteomics and metabolonomics
- •3. The tasks:
- •5. Performance criteria:
- •8. Bibliography:
- •9. Check:
- •1. Theme #6. Cloning of organisms and cells
- •3. The tasks:
- •5. Performance criteria:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •1. Theme #9. Molecular and genetic mechanisms of aging
- •3. The tasks:
- •5. Requirements to presentation making up:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •1. Theme #13. Human genetic passport
- •3. The tasks:
- •5. Requirements to abstract work design:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •8. Bibliography:
- •9. Check:
- •Control and measuring means for the assessment of knowledge, skills in molecular biology and medical genetics
- •2012 Year
- •I. Examination questions:
- •II. The test exam questions:
- •Molecular biology
- •Replication
- •II. Molecular Cell Biology
- •Cell Cycle
- •Ontogenezis
- •Mutations
- •Oncogenetics
- •III. Fundamentals of general genetics
- •Ekogenetic
- •Pharmacogenetics
- •IV. Fundamentals of medical genetics
- •The list of questions to assess the practical skills: Molecular biology
- •Genetics
8.5.An algorithm preventing hereditary diseases, to determine the indications
Women's consultation
Physician-genetic consultancy
Prenatal diagnostic
Recommendations for the prevention of hereditary pathology
8.6. Supplement of the scheme
General principles of genetic diseases
? ? ? ?
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.