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Theme: Human Hereditary Diseases. MonogenicMendelian Diseases

2. Object:

- form students’ knowledge of gene diseases and their classification;

- explain genetic mechanisms of development of human genic diseases;

- develop communicative skills during analysis of the etiology of human genic pathologies and their classification;

- develop communicative skills in the process of solution of typical situation problems and filling-in didactic tables;

- form practical skills in the process of role plays.

3. Educational Tasks:

- familiarize the students with the principal types of inheritance of genic disease;

- teach students to differ clinical manifestations of genic diseases;

- teach students to apply the knowledge received in their practical activity and in the process of role plays;

- adopt practical skills of doctor’s thinking, principles of psychological assessment of the state of patients with hereditary diseases and members of their families, the ability to correctly build relations with them.

4. Principal Questions of the Theme:

4.1. Definition of human genic diseases and their classification

4.2. Types of inheritance of human monogenic diseases. Conditions of mendelization

4.3. Ferment pathologies. Haemoglobin pathologies. Diseases of morphogenesis impairment.

4.4. Etiology, pathogenesis, key clinic signs, methods of diagnostics, treatment, and prevention of ferment pathologies by example of phenylketonuria

4.5. Etiology, pathogenesis, key clinic signs, methods of diagnostics, treatment, and prevention of haemoglobin pathologies by example of sickle-cell anemia

4.6. Etiology, pathogenesis, key clinic signs, methods of diagnostics, treatment, and prevention of morphogenesis impairment by example of Marfan’s syndrome

5. Methods of Teaching: interrogation aimed at clarification of students’ understanding of the essence, object, and objectives of the lesson; ability to briefly, clearly, logically recount and ability of draw the learnt material in the form of schemes, diagrams, drawings; testing with subsequent discussion of errors; work in group: explanation and demonstration of problem solution, filling-in schemes

6. Literature:

6.1. Bochkov N.P. Clinical Genetics. M., PH “GEOTAR – Med”, 2004, pp. 13, 47-64, 136-178, 210-255, 261-271

6.2. Faller D.M., Denis Shields. Molecular Biology of the Cell. Guide for physicians. M., Binome-press. 2006, pp.110, 123-125, 169-171, 186-187

6.3. Inge – Vechtomov S.G. Genetics with Fundamentals of Selection. M.: Higher School. 1989, pp. 23-54, 85-108, 496-498

6.4. Mushkambarov N.N. Molecular Biology. M., 2003, pp. 163, 518-250

6.5. Genetics. Schoolbook for universities (under redaction of Academician of RAMS Ivanov V.I.), pp. 12-39, 82-99, 116-125, 173-181

6.6. Alberts B. et al. Molecular Biology of the Cell. Translation from English, V 2. M.: Mir1994

6.7. Introduction to Molecular Medicine. Under redaction of M.A. Paltsev. M.: Medicine, 2004, pp. 11-32

6.8. Ginter Y.K. Medical Genetics, M., Educational Medicine, 2003, pp. 22-27, 64-141

6.9. Zhimulyov I.F. General and Molecular Genetics. Novosibirsk, 2003, pp.31-38, 40-48, 452

6.10. F.Iala, J.Kaiger. Modern Genetics. M.: Mir 1988, V1, pp.37-56, 64-80, V2, pp. 321, 334-341, V3, p. 61

7. Control:

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