Bi9325 Human Molecular Genetics

Faculty of Science
Autumn 2020
Extent and Intensity
2/0/0. 2 credit(s) (plus extra credits for completion). Type of Completion: zk (examination).
Teacher(s)
doc. RNDr. Petr Kuglík, CSc. (lecturer)
RNDr. Vladimíra Vallová, Ph.D. (lecturer)
doc. RNDr. Petra Bořilová Linhartová, Ph.D., MBA (lecturer)
Hana Zelená (assistant)
Guaranteed by
doc. RNDr. Petr Kuglík, CSc.
Department of Experimental Biology – Biology Section – Faculty of Science
Contact Person: RNDr. Vladimíra Vallová, Ph.D.
Supplier department: Department of Experimental Biology – Biology Section – Faculty of Science
Timetable
Tue 13:00–14:50 prace doma
Prerequisites (in Czech)
( B7250 Human genetics || Bi7250 Medical genetics ) && ( Bi6081 Bachelor state exam of Molecular biology and genetics || Bi6082 Bachelor state exam of Special biology || Bi6087 Bachelor state exam of Cellular and molecular diagnostics || Bi6088 Bc. state exam Klin.Gen.Diagn. || SOUHLAS)
Course Enrolment Limitations
The course is also offered to the students of the fields other than those the course is directly associated with.
fields of study / plans the course is directly associated with
there are 6 fields of study the course is directly associated with, display
Course objectives
The aim of this course is to provide a molecular-genetic insight into selected areas of human genetics.
Learning outcomes
At the end of this course, students should be able to describe the structure of the human genome; to apply the principles of methods used in analysis of human genome; to understand molecular principles of human genetic diseases (monogenic and polygenic); to formulate the principles of human pharmacogenetics and gene therapy; to be familiarised with base of forensic genetics.
Syllabus
  • 1. Human Genome Project 2. Mutations and polymorphisms of human DNA. Molecular aspects of monogenic diseases. 3. Structural genome variability and rare chromosomal diseases 4. Molecular patho(physio)logy 5. Genetics and complex diseases 6. Gene therapy 7. Pharmacogenetics 8. Genetics and cancer 9. Clinical molecular diagnosis 10. Genetics and forensic medicine 11. Educational excursion to Department of Forensic Medicine 12. News in Human Genetics - presentations of well-known experts
Literature
  • STRACHAN, T. and Andrew P. READ. Human molecular genetics. 4th ed. New York: Garland Science, 2011, xxv, 781. ISBN 9780815341499. info
  • 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
Teaching methods
Presentations by experts in the sectors. The Powerpoint presentations are used.
Assessment methods
Written test. Student selects one or more possibility from the answers.
Language of instruction
Czech
The course is also listed under the following terms Autumn 2007 - for the purpose of the accreditation, Autumn 2010 - only for the accreditation, Autumn 2003, Autumn 2004, Autumn 2005, Autumn 2006, Autumn 2007, Autumn 2008, Autumn 2009, Autumn 2010, Autumn 2011, Autumn 2011 - acreditation, Autumn 2012, Autumn 2013, Autumn 2014, Autumn 2015, Autumn 2016, autumn 2017, Autumn 2018, Autumn 2019, autumn 2021, Autumn 2022, Autumn 2023, Autumn 2024.
  • Enrolment Statistics (Autumn 2020, recent)
  • Permalink: https://is.muni.cz/course/sci/autumn2020/Bi9325