Course: Human Genetics

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Course title Human Genetics
Course code KMB/708
Organizational form of instruction Lecture + Lesson
Level of course Master
Year of study not specified
Frequency of the course In each academic year, in the winter semester.
Semester Winter
Number of ECTS credits 6
Language of instruction Czech
Status of course Compulsory-optional
Form of instruction Face-to-face
Work placements This is not an internship
Recommended optional programme components None
Lecturer(s)
  • Scheinost Ondřej, Mgr.
  • Zrzavá Magda, RNDr. Ph.D.
Course content
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.

Learning activities and teaching methods
Monologic (reading, lecture, briefing)
  • Preparation for classes - 30 hours per semester
  • Preparation for exam - 30 hours per semester
  • Class attendance - 26 hours per semester
Learning outcomes
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.
Prerequisites
Basic understanding of genetics.

Assessment methods and criteria
Oral examination

To pass the oral exam, the student must satisfactorily answer three examination questions.
Recommended literature
  • SNUSTAD D. P., SIMMONS M. J. Genetika. Masarykova univerzita Brno, 871 s., 2009.
  • THOMPSON, T. Klinická genetika. Praha: Triton, 2004.


Study plans that include the course
Faculty Study plan (Version) Category of Branch/Specialization Recommended year of study Recommended semester
Faculty: Faculty of Science Study plan (Version): Secondary Schools Teacher Training in Biology (1) Category: Pedagogy, teacher training and social care - Recommended year of study:-, Recommended semester: Winter
Faculty: Faculty of Science Study plan (Version): Secondary Schools Teacher Training in Biology (1) Category: Pedagogy, teacher training and social care - Recommended year of study:-, Recommended semester: Winter
Faculty: Faculty of Science Study plan (Version): Clinical Biology (1) Category: Biology courses - Recommended year of study:-, Recommended semester: Winter
Faculty: Faculty of Science Study plan (Version): Experimental Biology (1) Category: Biology courses - Recommended year of study:-, Recommended semester: Winter