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Fundamentals of medical genetics

Вибіркова дисципліна для ОП

Second

2023/2024

4 Semester

3

PLO 02. Understanding and knowledge of fundamental and clinical biomedical sciences, at a level sufficient for solving professional tasks in the field of health care. PLO 05. Collect complaints, history of life and illness, assess psychomotor and physical development of the patient, ... PLO 07. Prescribe and analyze additional (mandatory and optional) ... (according to list 4), patients with diseases of organs and systems ... (according to list 2). PLO 27. Communicate freely in public and in English, ... PLO 28. Make effective decisions on health care problems, ... PLO 29. Plan, organize and carry out measures for the specific prevention of infectious diseases, including according to the National calendar of preventive vaccinations,.. .

Full-time form

Successful mastering of the courses "Medical Biology", "Histology, Cytology and Embryology" and "Human Anatomy". Knowledge of basic theoretical foundations of molecular biology, biochemistry, cytology, embryology, cell biology. Understanding the principles of inheritance and variability of traits in humans. Ability to independently use theoretical knowledge of the above disciplines to solve practical problems, work with electronic databases, scientific literature, the ability to system analysis.

The discipline "Fundamentals of Medical Genetics" is part of the educational program of professional training of specialists of the educational level "Master". The course covers the study of inheritance and variability of pathological traits in humans. The classification of hereditary diseases, molecular genetic mechanisms underlying the development of pathological conditions in the presence of chromosomal and genetic hereditary diseases are considered. Attention is paid to hereditary predisposition to sporadic and multifactorial diseases, such as cancer, mental disorders, diseases of the cardiovascular system and more. The data on the connection of different polymorphic variants of the human genome with different pathological conditions, general information on the causes of individual sensitivity to drugs. Problems of appointment of individual schemes of drug therapy depending on a genotype of the patient are discussed.

1. Medical genetics // ed. Grechanina O.Ya. - K.: Medicine, 2007. 2. Chopey M.I., Rushkovskyi S.R., Afanasyeva K.S. Methodological recommendations for the educational discipline "Fundamentals of medical genetics", electronic edition, 2023, 52 p. (https://biomed.knu.ua/images/stories/Kafedry/Genetika/Biblioteka/Osnovy_medychnoi_ge netyky.pdf). 3. Jorde L.D., Carey J.C., Bamshad M.J. Medical genetics, 5th Edition. - Elsevier, 2016. 4. Grody W., Korf B., Pyeritz R. Emery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications. - Academic Press, 2019.

Lectures, practical classes, consultations, independent work

Modular control papers, final modular control paper, evaluation of practical works, survey of students in classes. Final assessment in the form of credit.

Ukrainian