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Lecturer(s)
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Vlčková Markéta, MUDr. Ph.D.
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Tesner Pavel, MUDr. Ph.D.
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Kremlíková Pourová Radka, MUDr. Ph.D.
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Course content
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Lectures: Congenital anomalies Chromosomal disorders Mendelian disorders Inborn errors of metabolism Neurodevelopmental syndromes Neurodegenerative disorders Cancer genetics Multifactorial conditions and common disorders with hereditary factors Reproduction & preimplantation genetics Prenatal diagnostics Genetic counselling Precision medicine and gene-directed therapy Genealogy and commercial genetic testing For each seminar, students will prepare a presentation of a scientific article that covers one of the lectures´ topics and that will be discussed in the class.
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Learning activities and teaching methods
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unspecified
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Learning outcomes
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The course should acquaint students with knowledge of heritable and genetic disorders and disease predisposition. Specific focus will be given on connection between molecular genetics research and clinical practice. All topics will be covered from both clinical and diagnostic perspective to reinforce the connection between medicine, research and diagnostics. The course will be divided in lectures and seminars that cover topics listed below.
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Prerequisites
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Fundamental Human Genetics
KMB/932
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Assessment methods and criteria
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unspecified
Credit: seminar participation (max. 3 absences), presentation of a scientific article Exam: written exam (min. 50%)
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Recommended literature
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Emmery's Elements of Medical Genetics and Genomics, 16th Edition, 2021.
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Pritchard D., Korf, B.R. Medical Genetics at Glance. Third Edition (2016).
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Thompson and Thompson, Genetics in Medicine, 3rd Edition, 2016.
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