Infopaket

Fundamentals of medical genetics

Вибіркова дисципліна для ОП

Second

2023/2024

4 Semester

3

2. Understanding and knowledge of basic and clinical biomedical sciences, at a level sufficient to solve professional problems in the field of health care. 5. Collect complaints, life history and disease, assess the psychomotor and physical development of the patient, the state of organs and systems of the body, based on the results of laboratory and instrumental studies to assess information about the diagnosis (list 4), taking into account the patient's age. 7. Assign and analyze additional (mandatory and optional) methods of examination (laboratory, 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). 27. Fluent in the state and English languages, both orally and in writing, to discuss professional activities, research and projects. 28. Make effective decisions on health issues, assess the necessary resources, take into account social, economic and ethical implications

1. Successful completion of the courses "Medical Biology", "Histology, Cytology and Embryology" and "Human Anatomy". 2. Knowledge of basic theoretical basics of molecular biology, biochemistry, cytology, embryology, cell biology. 3. Understanding the principles of inheritance and the variability of traits in human. 4. The ability to independently use theoretical knowledge from the above disciplines to solve practical problems, work with electronic databases, scientific literature, the ability to perform systematic analysis.

The course covers the study of the peculiarities of inheritance and the 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 oncological diseases, mental disorders, diseases of the cardiovascular system, etc. Data on the connection of various polymorphic variants of the human genome with various pathological conditions, general information on the causes of individual sensitivity to drugs are given. The problems of prescribing individual schemes of drug therapy depending on the patient's genotype are discussed. Special attention is paid to principles and approaches in the prevention and treatment of hereditary diseases, social and ethical aspects of medical genetics.

1. Lewis R. Human Genetics: Concepts and Applications. - N-Y.: The McGraw-Hill Companies, 2010 2. Cummings M.R. Human heredity- N-Y.: Brooks Cole pub, 2003. 3. Speicher M.R., Antonarakis S.E., Motulsky A.G. Vogel and Motulsky's Human Genetics. Problems and Approaches.- Berlin: Springer, 2010. 4. Jorde L.D., Carey J.C., Bamshad M.J. Medical genetics, 5th Edition. - Elsevier, 2016. 5. 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, laboratory classes, independent work

- semester assessment:: 1. Module control work 1: LO 1.1-1.3, 2.1-2.3.– 25 points /12,5 points 2. Module control work 2: LO 1.2-1.3, 2.1-2.4.– – 25 points/12,5 points 3. Evaluation of the implementation of laboratory works: LO 2.1 – 4.1 – 30 points/15 points 4. Evaluation of additions, oral answers: LO 1.1-4.1– 20 points/10 points - final evaluation: in the form of the credit

English