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Lecturer(s)
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Course content
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Genetics and its role in medicine. Basic terminology in genetics. Embryo development: genetic aspects. Autosomal dominant inheritance. Autosomal recessive inheritance. Sex-linked inheritance. Multifactorial threshold model. Clinical cytogenetics. Genetic examination in obstetrics. The most frequent genetic handicaps. Biochemical screening for developmental defects. Non-invasive diagnostic methods to detect developmental defects. Invasive prenatal diagnostics to detect developmental defects. Foetal therapy. Genetic counselling.
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Learning activities and teaching methods
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Monologic (reading, lecture, briefing), Dialogic (discussion, interview, brainstorming), Work with text (with textbook, with book)
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Learning outcomes
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The course is designed as a theoretical, it allows learners to gain knowledge of genetic information, about the prevention of inborn defects, understanding the basic principles of genetics, principles of heredity at the level of molecules, cells and organisms, particularly with emphasis on human genetics. Part of the content are also the basic files of genetic defects, methods of genetic screening and evaluation of genetic risks, including the genetic counseling.
Students focus on basic principles of genetics and can apply the methods of genetic screening.
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Prerequisites
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unspecified
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Assessment methods and criteria
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unspecified
Completion of compulsory attendance at the lectures. Completion of a written test or oral examination according to the course guarantor's decision.
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Recommended literature
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MAŘÍKOVÁ, T.; SEEMANOVÁ, E. Klinická genetika. 1. vyd. Praha: Karolinum, 2013.
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OTOVÁ, B.; MIHALOVÁ, R. Základy biologie a genetiky člověka. 1. vyd. Praha: Karolinum, 2013.
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