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Fundamentals of medical genetics

Вибіркова дисципліна для ОП

Second

2021/2022

4 Semester

3

PLO 3. Assign and analyze additional 13 (mandatory and optional) examination methods (laboratory, radiological, functional and / or instrumental) according to list 4, patients with diseases of organs and systems of the body for differential diagnosis of diseases (list 2) . PLO 4. Establish a final clinical diagnosis by making an informed decision and logical analysis of subjective and objective data of clinical, additional examination, differential diagnosis, adhering to relevant ethical and legal norms, under the supervision of a physician-manager in a medical institution (according to list 2 ). PLO 18. Analyze and evaluate state, social and medical information using standard approaches and computer information technology. PLO 23. Adhere to the requirements of ethics, bioethics and deontology in their professional activities.

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.

Medical genetics // ed. Grechanina O.Ya. - K.: Medicine, 2007. Rushkovsky S.R. Pharmacogenetics. Course of lectures. - Kyiv: NSC "Institute of Biology", 2013. Jorde L.D., Carey J.C., Bamshad M.J. Medical genetics, 5th Edition. - Elsevier, 2016. 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