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Vyučující
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Tesner Pavel, MUDr. Ph.D.
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Vlčková Markéta, MUDr. Ph.D.
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Vaněček Tomáš, RNDr. Ph.D.
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Hajdušková Martina, RNDr. Ph.D.
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Kožich Viktor, prof. MUDr.
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Putzová Martina, Dr.
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Lošan Petr, MUDr.
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Sedláček Radislav, XXX Dr. rer. nat.
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Vaněček Tomáš, RNDr. Ph.D.
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Riegert Bystřická Dagmar, Mgr. Ph.D.
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Kremlíková Pourová Radka, MUDr. Ph.D.
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Fencková Michaela, Mgr. Ph.D.
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Obsah předmětu
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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
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Studijní aktivity a metody výuky
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- Účast na výuce
- 39 hodin za semestr
- Semestrální práce
- 30 hodin za semestr
- Příprava na zkoušku
- 26 hodin za semestr
- Příprava na zápočet
- 15 hodin za semestr
- Domácí příprava na výuku
- 15 hodin za semestr
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Výstupy z učení
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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.
Competences: Understanding of the basic principles of clinical genetics and genomics, including the role of genetics in human health and disease. Ability to recognize major categories of hereditary disorders, including chromosomal disorders, Mendelian diseases, multifactorial conditions, neurodevelopmental syndromes, neurodegenerative disorders and hereditary cancer syndromes. Knowledge of inheritance patterns and pedigree interpretation, including autosomal dominant, autosomal recessive, X-linked, mitochondrial and multifactorial inheritance. Familiarity with the clinical presentation and diagnostic approaches used in congenital anomalies, inherited metabolic disorders and genetic syndromes. Understanding of principles, applications and limitations of genetic and genomic diagnostic methods used in clinical practice. Knowledge of prenatal, reproductive and preimplantation genetic testing and their role in diagnosis and reproductive decision-making. Understanding of the principles and practice of genetic counselling, including risk assessment, family history analysis and communication of genetic information. Familiarity with the principles of precision medicine and gene-directed therapies from a clinical and diagnostic perspective. Understanding of ethical, legal and societal aspects of genetic testing, including commercial genetic testing and genealogy-based analyses. Ability to critically read, interpret and discuss scientific and clinical literature related to clinical genetics and genomics. Skills in scientific presentation and discussion through preparation and presentation of selected research articles. Ability to connect clinical manifestations of disease with patterns of inheritance and appropriate diagnostic strategies.
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Předpoklady
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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. Preparation for seminars: Preparation for seminars: each student will read the article that will be presented and prepare for the discussion. He/she can be encouraged by the lecturer to ask questions.
KMB/932
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Hodnoticí metody a kritéria
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nespecifikováno
Credit: seminar participation (max. 3 absences), presentation of a scientific article assigned by the lecturer and evaluated by the lecturer as of sufficient quality. Exam: written exam (min. 60%)
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Doporučená literatura
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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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