Lecturer(s)
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Course content
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The content of lectures: The basis of clinical cytogenetics, normal and pathological karyotype, indications for prenatal and postnatal karyotype evaluation. Methods of prenatal cytogenetic diagnostics, prenatal screening. Clinic symptoms of inborn chromosomal aberrations. Induced chromosomal aberrations, syndromes showing increased chromosomal instabilities. Molecular methods of prenatal diagnosis. Gene therapy. Human genomics. Oncogenetics. Inborn errors of metabolism, prenatal and postnatal diagnostics, therapy. Clinical genetics, indications to genetic counseling, primary and secondary prevention. Teratogene exposure during gravidity. Example of single gene inherited genetic diseases, their clinical symptoms and possibilities of prenatal diagnosis. Reproduction medicine, pre-implantation diagnostics. Ethic problems connected to advances in genetics, legislative standards.
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Learning activities and teaching methods
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Monologic (reading, lecture, briefing)
- Preparation for classes
- 65 hours per semester
- Preparation for exam
- 60 hours per semester
- Class attendance
- 26 hours per semester
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Learning outcomes
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The objective of the lecture is to provide outlook in contemporary state and perspectives in human genetics, inborn genetic defects, cytogenetics, molecular diagnostic methods and legal issues in medical genetics.
The student will get an overview of various aspects of human genetics, i.e. types and causes of numerical and structural chromosomal aberrations and their consequences, methods used in prenatal, postnatal and tumor diagnostics, genetic counseling and related ethical problems.
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Prerequisites
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Basic understanding of genetics.
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Assessment methods and criteria
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Oral examination
To pass the oral exam, the student must satisfactorily answer three examination questions, correctly answer two of them.
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Recommended literature
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SNUSTAD D. P., SIMMONS M. J. Genetika. Masarykova univerzita Brno, 871 s., 2009.
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THOMPSON, T. Klinická genetika. Praha: Triton, 2004.
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