Infopaket

Genetic and hereditary diseases

Вибіркова дисципліна для ОП

First

2025/2026

5 Semester

4

PRN 7. Verify the results of laboratory tests for the diagnosis of childhood diseases (norm / pathology).

1. Knowledge of the theoretical foundations of chemistry, physics, cell biology, pathomorphology, pathophysiology, etc. 2. Be able to independently apply knowledge of molecular biology, biochemistry, immunology and cytology. 3. Possession of elementary skills in working with scientific electronic databases, scientific literature and the ability to perform systematic analysis.

The course covers the study of the features of inheritance and variability of pathological signs of humans. The classification, etiology and features of the clinical picture of hereditary diseases are considered. The mechanisms of pathological conditions in the manifestation of chromosomal and genetic hereditary diseases are considered. Attention is paid to the hereditary predisposition to multifactorial diseases (oncological, mental, cardiovascular system diseases, etc.): establishing the role of genotype and environment, searching for genes that influence the implementation of multifactorial diseases. The relationship of various polymorphic variants of the human genome with various pathological conditions is considered. The principles and approaches in the prevention and treatment of hereditary diseases, the role of medical genetics and genetic counseling, social and ethical aspects of clinical genetics are discussed

1. Read A., Donnai D. New clinical genetics - Scion Publishing, 2021. 2. Медична генетика // ред. Гречаніна О.Я. - К.: Медицина, 2007. 3. Чопей М.І., Рушковський С.Р., Афанасьєва К.С., Методичні рекомендації до нав- чальної дисципліни «Основи медичної генетики», 2023. - 52 с. https://biomed.knu.ua/images/stories/Kafedry/Genetika/Biblioteka/Osnovy_medychnoi_ge netyky.pdf. 4. Clinical Genetics and Genomics at a Glance // eds. Lakhani N.,Barwell J., Dorkins H. - John Wiley & Sons Ltd, 2024.

Lectures, independent work, laboratory work

- semester assessment: 1. Modular test paper 1: РН 1.1, 1.2, 2.1, 2.3, 2.4 – 20 points/10 points (block of topics of Section 1) 2. Modular test paper 2: РН 1.1, 1.3, 1.4, 2.2 – 20 points/10 points (block of topics of Section 2) 3. Assessment of laboratory work: РН 2.1 – 3.1 – 12 points/6 points 4. Assessment of independent work, research tasks, essays, oral answers, supplements: РН 1.1-1.4, 4.1 – 8 points/4 points - final assessment: in the form of an exam

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