Infopaket

Diagnosis and prevention of genetic diseases

Вибіркова дисципліна для ОП

Second

2024/2025

3 Semester

4

PRN 1. Apply professional knowledge; formulate ideas, concepts for the purpose of using in the work of an academic or professional direction. PRN 2. Find solutions in professional activities, have sufficient competence in the methods of independent research, be able to interpret their results. PRN 3. Possess and apply knowledge and skills from general and professional training when solving specialized tasks. PRN 5. Argue conclusions and identify connections between modern concepts in the organization of the management process at each stage of professional activity. PRN 7. Demonstrate deepening of basic knowledge through self-education. demonstrate the ability to present and evaluate one's own experience and analyze and apply. experience of colleagues, demonstrate the ability to exchange experience with other specialists.. PRN 8. PRN 10. PRN 11. PRN 13. PRN 14. PRN 15. PRN 18.

Full-time form

1. Successful completion of the courses “Molecular Biology”, “Fundamentals of Medical Genetics”, “Biological Chemistry”, “Human Anatomy”, “Cytology, Histology and Human Embryology”, “Human Physiology”, “Pharmacology and Medical Formulation”. 2. Knowledge of the theoretical foundations of biology, molecular biology, general genetics, biochemistry, cytology, embryology, cell biology, human anatomy and physiology. 3. Ability to independently use theoretical knowledge from the above disciplines to solve practical problems, work with scientific electronic databases, scientific literature, ability to perform system analysis.

The discipline "Diagnosis and prevention of genetic diseases" is part of the educational program of professional training of educational level "Master". The course covers the study of basic approaches to modern diagnosis and prevention of hereditary diseases and diseases with hereditary predisposition. The classification of hereditary diseases, molecular mechanisms of pathological conditions in chromosomal and genetic hereditary diseases, the role of genotype and environment in the implementation of multifactorial diseases are considered. Particular attention is paid to classical and modern methods of prenatal and postnatal diagnosis of hereditary pathologies, organization of medical and genetic counseling, calculation of risks of childbirth with relevant hereditary pathologies, as well as risks of multifactorial diseases. Problems of prevention and treatment of hereditary and multifactorial diseases are discussed.

1. Handbook of Clinical Adult Genetics and Genomics: A Practice-based Approach//eds. Dhar S., Nagamani S.S.Ch., Eble T. - Academic Press, 2020. 2. Chopey M.I., Rushkovsky S.R., Afanasyeva K.S. Methodological recommendations for the academic discipline "Fundamentals of Medical Genetics" for 2nd year students of the educational program "Medicine" of the educational level "Master" of the National Research Center "Institute of Biology and Medicine", 2023. - 52 p. https://biomed.knu.ua/images/stories/Kafedry/Genetika/Biblioteka/Osnovy_medychnoi_genetyky.pdf 3. Medical Genetics // ed. Grechanina O.Ya. - Kyiv: Medicine, 2007. 4. Syvolob A.V., Rushkovsky S.R., Kiryachenko S.S. et al. Genetics: a textbook. - Kyiv: Publishing and Printing Center "Kyiv University", 2008. 5. Strachan T., Read A. Human Molecular Genetics (5th ed.). - Garland Science, 2019 6. Lewis R. Human Genetics: Concepts and Applications (12Th ed.). – N-Y.: The McGraw−Hill Education, 2019

Lectures, laboratory work, independent work

Semester assessment: modular tests, assessment of laboratory work, assessment of additions, answers, abstract. Final assessment: in the form of a credit

Ukrainian