Infopaket

Diagnosis and prevention of genetic diseases

Вибіркова дисципліна для ОП

Second

2022/2023

3 Semester

4

Apply professional knowledge; formulate ideas, concepts for use in academic or professional work. Find solutions in professional activities, have sufficient competence in the methods of independent research, be able to interpret their results. Possess and apply knowledge and skills in general and professional training in solving specialized tasks. Demonstrate the deepening of basic knowledge through self-education. demonstrate the ability to present and evaluate their own experience and analyze and apply. experience of colleagues, demonstrate the ability to share experiences with other professionals .. Argue conclusions and identify modern concepts B organization of the management process at each stage of professional activity.

Full-time form

1. Successful mastering of the courses "Molecular Biology", "Genetics", "Medical Biology", "Biological and Bioorganic Chemistry". "Human Anatomy", "Histology", "Cytology and Embryology", "Pharmacology". 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 of the above disciplines to solve practical problems, work with scientific electronic databases, scientific literature, the ability to 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. Sivolob A.V., Rushkovsky S.R., Kiryachenko S.S. other. Genetics: textbook. - K.: Publishing and printing center "Kyiv University". 2008 4. Strachan T... Read A. Human Molecular Genetics (5th ed.).- Garland Science, 2019 5. Lewis R. Human Genetics: Concepts and Applications (12¹h ed.). McGraw-Hill Education, 2019 N-Y.: The 6. Jorde L.D., Carey J.C., Bamshad M.J. Medical genetics, 5th Edition. – Elsevier, 2016. 7. Grody W., Korf B., Pyeritz R. Fmery and Rimoin's principles and practice of medical genetics and genomics. Clinical principles and applications. Academic Press, 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