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Poslední úprava: Jana Kolářová (08.03.2021)
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Poslední úprava: KOT02392 (05.01.2011)
Application of knowledge gained in the subject "Biology and genetics" in theoretical part of studies to clinical practice. Acquainting students via short internships with the run of clinical genetics out-patient department and laboratories of molecular diagnostics and cytogenetics. |
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Poslední úprava: Jana Kolářová (08.03.2021)
Clinical Genetics - Syllabus Theoretical bases Indications for genetic examination and testing The concept of genetic counseling Genealogy, genetic diagnosis and prognosis Diagnostics (clinical genetic investigation) and types of genetic diseases Differential diagnostic methods in medical (clinical) genetics Ethical issues in clinical genetics Principles and examples of treatment of hereditary diseases Gene therapy and its prospects Prospects for the development and implementation of the field Congenital malformations, classification and etiology Teratogens and primary prevention of birth defects Monogenic inheritance (Mendelian diseases) - OMIM (Online Mendelian Inheritance in Man) - Population postnatal screening Chromosomal aberrations (classification, causes) Multifactorial etiology of the diseases - Genetic principles (multiple genes, non-Mendelian inheritance) - The impact of environmental factors - Diseases of civilization Syndromology in practice, diagnostic algorithm - Mentally retarded child in the family (interdisciplinary approach) - The possibility of testing - Family as a helper in the diagnosis and the largest source of information - Chromosomal aberrations (causes, phenotypic manifestations) - The imprinting (related diseases, clinical examples, diagnostic possibilities) Molecular genetic testing - Methods - Indications for examination - Types of mutations and their phenotypic effect - Diagnostic possibilities in molecular genetics and practical applications in medicine Cytogenetics - Methodology - Indications for examination - Mosaicism - Diagnostic capabilities in clinical cytogenetics and practical applications in medicine Prenatal diagnosis - Prenatal screening - Development of screening methods and their effectiveness - Possibilities and pitfalls of prenatal diagnosis - Indications for invasive prenatal diagnostic methods Pre-implantation genetic diagnosis Oncogenetics - (proto)oncogenes, tumor suppressor genes, mutator genes - Presymptomatic diagnosis - Genetic counseling in families at risk for tumors - Indication criteria for laboratory testing Reproductive Genetics - Genetics in Reproduction - Meiosis, gametogenesis and its disorders - Genetic causes of infertility - Chromosomal aberrations and their impact on fertility - Range of laboratory tests
Practice Student´s participation in consultations at outpatient department of Clinical Genetics Individual unsupported genealogical examination and evaluation of the data, creating the family tree Individual unsupported collection of family and personal history Informed Consent (formation, configuration and processing) Excursions (visit) in the cytogenetic laboratory (in the service) with the practical application of selected steps of cytogenetic analysis Excursions (visit) in the DNA diagnostic laboratory (in the service) Demonstration of output protocols of selected molecular genetic diagnostic methods Demonstration of results of selected cytogenetic diagnostic methods processed by computer image analysis system Demonstration of selected clinical cases - Case Reports, Case Scenarios Interpretation of the results of cytogenetic examination and prognosis Interpretation of the results of molecular genetic testing Individual (unsupported) solution of most frequent situations in the genetic clinic Medical documentation in clinical genetics, genetics records Economics of Health Services with special regard to Clinical Genetics Reporting in Health Service with regard to Clinical Genetics The organization and availability of clinical genetics care in the Czech Republic and EU |
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Poslední úprava: KOT02392 (03.01.2014)
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Poslední úprava: prof. MUDr. Ondřej Šeda, Ph.D. (03.10.2019)
Clinical Genetics - 4th year |