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Lecturer(s)
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Srovnal Josef, doc. MUDr. Ph.D.
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Strašil Radek, MUDr.
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Čapková Pavlína, RNDr. Ph.D.
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Curtisová Václava, MUDr.
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Friedecký David, prof. RNDr. Ph.D.
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Procházka Martin, prof. MUDr. Ph.D.
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Kolaříková Kristýna, Mgr. Ph.D.
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Janíková Mária, Mgr. Ph.D.
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Štellmachová Júlia, MUDr.
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Vrtěl Petr, Mgr. Ph.D.
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Volejníková Jana, doc. MUDr. Ph.D.
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Punová Lucia, MUDr.
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Ritter Ponikelská Natálie, MUDr.
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Šišperová Renáta, MUDr.
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Srovnalová Alžběta, Mgr. Ph.D.
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Vrtěl Radek, doc. RNDr. Ph.D.
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Osičková Lucie, MUDr.
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Course content
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Organizing instruction. The role of genetics in medicine, legal aspects. Single-gene disorders, examples of some common genetic diseases. The common and clinically most important single gene disorders. Molecular diagnosis - ABC. Prenatal diagnosis of genetics diseases. Teratogenic agents in gravidity. Inborn errors of metabolism. Oncogenetics. Epigenetics. Dynamics of epigenoma. Methods of DNA analysis - clinical aplications. Multifactorial type of inheritance, malformations, deformations and disruptions. Disorders of the gonads and reproductive ducts. Genetic in internal medicine. Chromosomal abnormalities - numerical and structural, FISH techniques. Neurogenetics. Genetics in Hematology. Pharmacogenetics, imunogenetics. Preimplantation diagnosis. Practical training - genetics counseling I. Practical training - genetics counseling II. Laboratory practice - determination of clinical significance of variants and orientation in basic databases, demonstration of evaluation in DNA laboratories. Practical training - demonstration of cytogenetic investigations. Presentation and evaluation of the course.
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Learning activities and teaching methods
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Lecture, Monologic Lecture(Interpretation, Training), Dialogic Lecture (Discussion, Dialog, Brainstorming), Observation, Training in job and motor Skils
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Learning outcomes
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Following the course student should be able to explain genetically ditermined illnesses and interpret results of chromosomal and DNA analysis, He/she should be able to estimate genetic risk sof recurrence of an anomaly or a disease in relatives, be able to understand basic findings in prenatal diagnosis and evaluate possible risks of teratogenic factors in a development of a fetus.
The ability to use gained knowledge in the proces of clinical genetic diagnosis or research.
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Prerequisites
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Basic knowledge of human biology, genetic and embryology.
IN0/VAA11 and MIK/VAA12 and FAR/VAB11 and IN2/VAB22 and PAT/VAB11 and PFY/VAB11 and KIM/VAB12 and CJA/VAB41 and CH0/VAB11
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Assessment methods and criteria
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Mark
To pass seminars and practical training, completed seminar project.
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Recommended literature
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Lynn B. Jorde, John C. Carey, Michael J. Bamshad. (2020). Medical Genetics, sixth edition. Elsevier.
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Nussbaum, R.L., McInnes, R.R., Willard, H.F. (2016). Thompson & Thompson Genetics in Medicine. Philadelphia, PA: Elsevier.
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Tobias, E. S., Connor, M., Ferguson-Smith, M. (2011). Essential Medical Genetics. Wiley-Blackwell.
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Vrtěl, R., Procházka, M., Vodička, R., Štellmachová, J. et al. (2023). Chapters of Medical Genetics for General Medicine Students. Olomouc: VUP.
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