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Lecturer(s)
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Riegert Bystřická Dagmar, Mgr. Ph.D.
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Course content
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1. Introduction to Clinical Genetics ? the role of the discipline in healthcare; genetics and genomics in medicine. 2. Principles of Inheritance and the Molecular Basis of Genetic Diseases. 3. Molecular Genetic Methods ? PCR, real-time PCR, Sanger sequencing, fragment analysis, MLPA (multiplex qRT-PCR), microarrays. 4. Modern Technologies ? droplet PCR (ddPCR), HRM analysis, RNA sequencing, methylome profiling, NGS methods (classification of NGS platforms ? Illumina, PacBio, Oxford Nanopore). 5. Cytogenetics and Cytogenomics ? cell culture, preparation and staining of chromosome preparations, karyotyping, FISH, chromosomal microarrays, whole-genome sequencing focused on structural variants, optical genome mapping. 6. Genetic Diagnostics in Clinical Practice ? hereditary diseases, prenatal and postnatal diagnostics. 7. Oncogenetics and Tumor Cytogenomics. 8. Pharmacogenetics and Personalized Medicine. 9. Interpretation of Genetic Findings ? variants of uncertain significance, classification of mutations, reporting, standardized recording of genetic findings, international nomenclatures (HUGO Gene Nomenclature, ISCN). 10. Genetic Counseling, Ethical and Legal Aspects, Communication with Patients and Clinicians. - Laboratory Block I ? Cytogenetics (4 hours; karyotyping, microscopy, FISH ? demonstration). - Laboratory Block II ? Molecular Genetics (4 hours; PCR, fragment analysis, MLPA, basic bioinformatics of NGS data ? demonstration/work with a dataset). - Internship in a Clinical Genetics Department (5 hours; introduction to diagnostic algorithms, laboratory workflow, interpretation, and interdisciplinary communication).
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Learning activities and teaching methods
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unspecified
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Learning outcomes
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To provide students with comprehensive knowledge in the fields of molecular genetics, cytogenetics, and clinical genetics. To teach students to understand the principles of heredity and the pathogenetic mechanisms of genetic diseases. To introduce diagnostic methods used in current clinical practice (karyotyping, FISH, MLPA, microarray technologies, NGS). To develop skills in the interpretation of genetic findings and the ability to engage in interdisciplinary communication with clinical genetics departments. To familiarize students with the basics of genetic counseling, including ethical and legal aspects.
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Prerequisites
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unspecified
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Assessment methods and criteria
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unspecified
Attendance in practical sessions completed (minimum 75%) and passing the oral examination with at least 50%.
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Recommended literature
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BRDIČKA R.: Genetika v klinické praxi. ?GHC Praha, 2014. ISBN 978-80-7492-106-3, ISBN 978-80-7492-107-0.
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Korf, Bruce R. a Dorian J. Pritchard. Základy lékařské genetiky. Překlad, 2. české vyd. Praha: Galén, 2021. ISBN 978-80-7492-513-9.
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Maříková T., Seemanová E. Klinická genetika. Praktické aplikace. Praha: Karolinum; 2014. 60 s. ISBN 978-80-2462-318-4..
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Nussbaum R., McInnes R., Willard H. Klinická genetika. 6. vydání. Praha: Triton; 2010. 492 s. ISBN 978-80-7254-475-2..
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Nussbaum, Robert L., Roderich R. McInnes a Huntington F. Willard. Thompson & Thompson Genetics and Genomics in Medicine [online]. 2nd ed. Philadelphia: Elsevier, 2023 [cit. 2025-10-21]. ISBN 978-0323547628..
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ŠKVOR J., PRŮCHOVÁ Š.: Základy klinické genetiky pro pediatrickou praxi.? Mladá fronta a.s., 2014. ISBN 978-80-204-3413-5.
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Turnpenny, Peter D., Sian Ellard a Ruth Cleaver. Emery's Elements of Medical Genetics and Genomics [online]. 16th ed. Amsterdam: Elsevier, 2021 [cit. 2025-10-21]. ISBN 9780702079665..
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