Medical Genetics Syllabus in Russia, Other CIS & Eastern Europe

Subject: Medical Genetics
Semesters: 1 semester in 2nd or 3rd year
Tentative hours of lectures: 50 hours
Tentative hours of practicals: 0 hours
Exam: internal exam (Zachiot)
Emphasis on the CIS syllabi: It’s wise to emphasize that this Curriculum/syllabus is tentative & the subject’s distribution or teaching hours or exams might vary in different universities and CIS.

Brief description of the course

The genetic basis of pathology is the study of the pathogenesis of diseases at a molecular level or from gene expression to pathologic metabolites formations.
Gene diseases classification: Chromosome diseases, classification, and characteristic of the spread, Risk factors of children birth with anomalies. Monogenic and polygenic forms of the disease.
Ecological genetics. Pharmacogenetics Cytogenic, biochemical molecular-genetic methods of research.
Treatment and prophylaxis of hereditary pathologies. Genetic consultation.
Prenatal diagnostic. Preimplantation diagnostic. Preclinical diagnostic and prophylaxis treatment. Screening test programs.

Objectives:

To understand the roles of genetic damage for adequate diagnostics and prophylaxis of inheritance and other diseases.
To form a vision about general principles of molecular-genetic methods use to theoretical and practical medicine
To form a vision about norm and pathology in the study of genetics mechanisms on cellular & organic levels.

Prerequisites:

Molecular biology and medical genetics

Educational methods:

Lectures
Practical lessons, seminars
- Active methods of education: team-based learning (TBL), problem-based learning (PBL), press conferences
- Traditional methods: work in pairs, work with textbook, situational tasks solution, discussing of student individual works, testing, microscopy, and micro slides drawing.
Independent works: project/presentation, essay, abstract preparation.

Lectures: topics & number of hours

Topics	Hours
1. Molecular mechanism of functional disorders of biological membrane	2 hours
2. Molecular mechanism of intracellular organoids functions disorders	2 hours
3. Molecular disorders of genetic apparatus of the cell	2 hours
4. Variability of hereditary characters as base of pathology. Mutation as a base factor of hereditary pathology	2 hours
5. Genetic effect under influence of ionizing emission	2 hours
6. Current control – colloquy	2 hours
7. Molecular-genetic disorders of metabolism diseases	2 hours
8. Classification of inheritance disorders. Methods of diagnostic and prophylaxis of gene diseases	2 hours
9. Analysis of clinical cases of gene diseases	2 hours
10. Nonspecific effects of chromosomal pathologies. Methods of diagnostic and prophylaxis of chromosomal diseases	2 hours
11. Analysis of clinical cases of chromosomal diseases	2 hours
12. Classification of disorders with non-traditional types of inheritance	2 hours
13. Molecular-genetic disorders of somatic and generative cells. Mechanism of ontogenetic disorders	2 hours
14. Role of environment for ontogenesis	2 hours
15. Teratogenic factors and carcinogenesis	2 hours
16. Etiology and pathogenesis of reproductive system	2 hours
17. Pathogenetic prophylaxis of reproductive health	2 hours
18. Genetic of aging	2 hours
19. Current control – colloquy	2 hours
20. Common characteristic of genetic predisposed disorders	2 hours
21. Laboratory methods of inherited pathology diagnostic. Genetic counseling	2 hours
22. General methods of genetic analysis: PCR-diagnostic	2 hours
23. General methods of genetic analysis: twins study, genealogical method, population genetics	2 hours
24. Final control	2 hours
Total:	48 hours

Interim assessments (Controls)

MCQs + situational tasks & Viva

Sample Control & Exam questions

MCQ

Simple or case-based
Single answer or multiple answers

Which of the following is the risk that an unaffected full sibling of a patient with cystic fibrosis (CF) carries a mutated CF gene?

1. 1 in 2
2. 1 in 4
3. 3 in 4
4. 2 in 3

Viva

State general principles of autosomal dominant inheritance? Define genotype and phenotype?

Situational tasks

A 24-year-old woman has sickle cell disease but has managed well, with only one crisis in the past 6 years. Both transfusion and hydroxyurea treatment have been suggested, but she has chosen not to try them yet. Her fiancée is unaffected. She is concerned about the risk of having an affected child if she becomes pregnant.
1. What is the pattern of the inheritance of her condition?
2. Calculate the percentage of risk of the affected child if she becomes pregnant through a pedigree?
3. How will you counsel her regarding her concern?

Scores

The score ranges from 5 to 1:
- 5 is “excellent” → Otlichno
- 4 is “good” → Khorosho
- 3 is “satisfactory” → Udovletvoritel’no
- 2 is “unsatisfactory” → Neudovletvoritel’no

Reference textbooks

Passarde E. Color Atlas of Genetics. Stattgart. New York: Thieme, 2007. – 486 p.
Brown T.A. Genetics a molecular approach. – New York: Chapman and Hall, 1990. – 387 p.
Cell / adap.: Koykov V.V., Tankibaeva N.U., Kultanov B.J. – Karaganda. 2003. – 51 p.
Koykov V.V. Genetics: Educational manual for students of medical faculty. – Karaganda. 2003. – 74 p.
Dorothy E. Core concepts in clinical molecular biology. – Philadelphia, New York: Lippincott-Raven publisher, 1997. – 74 p.
Strachan T. Human molecular genetics. – Oxford, New York, 1997. – 700 p.