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Lecturer(s)
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Gančarčíková Markéta, Mgr.
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Roušar Tomáš, prof. RNDr. Ph.D.
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Stříbrná Lucie, Mgr. Ph.D.
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Course content
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The role of genetics in medicine, importance for the practice of all medical disciplines. Disciplines of medical genetics. Application of genetics in diagnostics and medical preventive care. Ethical and legal aspects. Indications for genetic laboratory examination, goals and methods of genetic examination. Characteristics of genetic diseases. Etiology of genetic diseases. Classification of genetically determined diseases. Genetic counseling, genetic counseling in connection with prenatal diagnosis. Genetic screening. Birth defects. Registration of congenital malformations. Clinical genetic examination, basics of syndromology. Significance of signaling symptoms for differential diagnosis of syndromes. Diagnostic algorithm. Calculation of genetic risks, prevention of genetic diseases. Oncogenetics. Search for at-risk families. Cardiogenetics. Congenital heart defects, etiology, the most common related syndromes. Neurogenetics and the most common diagnostic situations from the point of view of a clinical geneticist, the issue of unclear interpretation of the conclusions of molecular genetic examinations. Genetics of mental retardation and autism. Problems of mental retardation / autism spectrum disorders from the point of view of a geneticist. Multifactor diseases. Analysis of genetic principles involved in the inheritance of diseases with multifactor inheritance. Preimplantation diagnostics and preimplantation screening. Diagnostic possibilities in cytogenetics. Overview of methods of classical and molecular cytogenetics, Laboratory genetic methods of the so-called "new generation" and their importance in medicine. Cytodiagnostics - types of cellular material for cytodiagnostics (smears, swabs, exudates, punctures) + types of evaluation and overview of used examinations. In vitro techniques of cell biology (overview of working with cells, culture conditions, media, supplements). Evaluation of cell function by various methods (proliferation, type of cell death, mitochondrial function, fluorescence microscopy, etc.)
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Learning activities and teaching methods
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Monologic (reading, lecture, briefing)
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Learning outcomes
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Clinical Genetics and Cytodiagnostics introduces knowledge in the field of medical genetics and cytodiagnostics. The aim is to gain knowledge of the rules of heredity of traits and diseases, to outline the basics of applied genetics in medicine. Gain a perfect overview of methods of Clinical Cytogenetics and Molecular Cytogenetics. Gain an overview of methods of DNA diagnosis of serious inherited diseases. Gain a basic overview of the possibilities of genetic counseling. The course reflects the current state in clinical practice and the current level of knowledge in this field. The topics covered are cytogenetics, molecular genetics, population genetics and dysmorphology, intervenes in the field of syndromology, mutations, assisted reproduction methods and current possibilities of molecular genetics, database accessibility and also presents issues of oncogenetics, gene therapy and medical ethics and counseling.
After completing the course, the student will be able to join the work teams of laboratory operations of Clinical Genetics. He will be able to apply the acquired knowledge and practical skills in performing laboratory procedures in Cytogenetics and Molecular Cytogenetics, including DNA analysis procedures.
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Prerequisites
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Genetics, Molecular Biology, Biology
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Assessment methods and criteria
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Written examination, Home assignment evaluation
Evaluation of individual works of students in seminars. Final written exam. Students have to answer more than 60 % questions.
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Recommended literature
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Kočárek, Eduard. Genetika : obecná genetika a cytogenetika, molekulární biologie, biotechnologie, genomika. Praha: Scientia, 2004. ISBN 80-7183-326-6.
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Snustad, D. Peter. Genetika. Brno: Masarykova univerzita, 2009. ISBN 978-80-210-4852-2.
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