Bi7250 Medical genetics and genetic counseling

Faculty of Science
Spring 2022
Extent and Intensity
2/0/0. 2 credit(s) (fasci plus compl plus > 4). Type of Completion: zk (examination).
Teacher(s)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
RNDr. Iveta Valášková, Ph.D. (lecturer)
RNDr. Vladimíra Vallová, Ph.D. (lecturer)
doc. RNDr. Petr Kuglík, CSc. (lecturer)
Guaranteed by
doc. RNDr. Petr Kuglík, CSc.
Department of Experimental Biology - Biology Section - Faculty of Science
Contact Person: doc. RNDr. Petr Kuglík, CSc.
Supplier department: Department of Experimental Biology - Biology Section - Faculty of Science
Prerequisites (in Czech)
( Ex_3162 Obecná genetika || Imp_9126 Obecná genetika || B1900 Basic genetics || BMB32 Basic genetics || B6730 Basic genetics || B8470 Genetics || B3060 Basic genetics || Bi3060 Basic genetics ) && ( Ex_3065 Molekulární biologie || Imp_9115 Molekulární biologie || B3120 Molecular and cell biology || B4030 Molecular biology || B5740 Molecular biology || B6130 Molecular biology || B7940 Molecular biology || B4020 Molecular biology || Bi4020 Molecular biology ) && ( Ex_2315 Cytogenetika || BMB41 Cytogenetics || B6270 Cytogenetics || Bi6270 Cytogenetics || NOW ( Bi6270 Cytogenetics )) && ! B7250 Human genetics
Course Enrolment Limitations
The course is only offered to the students of the study fields the course is directly associated with.
fields of study / plans the course is directly associated with
there are 12 fields of study the course is directly associated with, display
Course objectives
The aim of this course is to provide a basic insight into human genetics and to familiarise students with basic principles and methods of medical genetics.
Learning outcomes
At the end of the course, students should be able to understand the principles of medical genetics; to describe and explain methods used in medical genetics; to apply learned knowledge for solving model examples in clinical medicine.
Syllabus
  • 1. Medical genetics and genetic counselling. 2. Etics and law in medical genetics. 3. Rare diseases. 4. Preventive approach in medical genetics, primary and secondary prevention. 5. New approaches in human cytogenetics. Genetics of disorders of intellectual development. 6. Human diseases with Mendelian inheritance, direct DNA diagnostics. 7. Non-direct DNA diagnostics. 8. RNA diagnostics. 9. New molecular methods in human genetics. 10. New trends in prenetal diagnosis - non-invasive approach. 11. Genetic counselling in reproduction genetics, genetic cause of infertility, prenatal and preimplantation genetic diagnosis. 12. Modern whole-genome methods in preimplantation genetic diagnosis. 13. Human metabollic defects. 14. Personal identification (paternity, forensics).
Literature
  • SNUSTAD, D. Peter, Michael J. SIMMONS, Jiřina RELICHOVÁ, Jiří DOŠKAŘ, Jiří FAJKUS, Petr HOŘÍN, Aleš KNOLL, Petr KUGLÍK, Jan ŠMARDA, Jana ŠMARDOVÁ, Renata VESELSKÁ and Boris VYSKOT. Genetika (Principles of Genetics). 1st ed. Brno: Masarykova univerzita, 2009. 894 pp. Učebnice. ISBN 978-80-210-4852-2. URL info
  • NUSSBAUM, Robert L., Roderick R. MCINNES, Huntington F. WILLARD, James THOMPSON and Margaret Wilson THOMPSON. Klinická genetika : Thompson & Thompson : 6. vyd. Translated by Petr Goetz. Vyd. 1. Praha: Triton, 2004. 426, lix. ISBN 8072544756. info
Teaching methods
lectures
Assessment methods
oral exam
Language of instruction
Czech
Follow-Up Courses
Further Comments
The course is taught annually.
The course is taught: every week.
Listed among pre-requisites of other courses
The course is also listed under the following terms Spring 2008 - for the purpose of the accreditation, Spring 2011 - only for the accreditation, Autumn 2002, Spring 2004, Spring 2005, Spring 2006, Spring 2007, Spring 2008, Spring 2009, Spring 2010, Spring 2011, Spring 2012, spring 2012 - acreditation, Spring 2013, Spring 2014, Spring 2015, Spring 2016, Spring 2017, spring 2018, Spring 2019, Spring 2020, Spring 2021.
  • Enrolment Statistics (Spring 2022, recent)
  • Permalink: https://is.muni.cz/course/sci/spring2022/Bi7250