BSLG021p Medical Genetics - lecture

Faculty of Medicine
spring 2021
Extent and Intensity
1/0/0. 1 credit(s). Type of Completion: z (credit).
Taught online.
Teacher(s)
prof. MUDr. Michael Doubek, Ph.D. (lecturer)
prof. RNDr. Šárka Pospíšilová, Ph.D. (lecturer)
RNDr. Iveta Valášková, Ph.D. (lecturer)
MUDr. Jana Šoukalová (lecturer)
Mgr. Marta Navaříková (lecturer)
MUDr. Rastislav Beharka (lecturer)
MUDr. Klára Drábová, Ph.D. (lecturer)
Bc. Kateřina Stehlíková, DiS. (assistant)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
Guaranteed by
RNDr. Iveta Valášková, Ph.D.
Institute of Medical Genetics and Genomics – Institutions shared with the Faculty Hospital Brno (paediatric medicine) – Faculty of Medicine
Contact Person: Bc. Kateřina Stehlíková, DiS.
Supplier department: Institute of Medical Genetics and Genomics – Institutions shared with the Faculty Hospital Brno (paediatric medicine) – Faculty of Medicine
Timetable
Tue 9. 3. 11:00–12:40 F01B1/309, Tue 23. 3. 11:00–12:40 F01B1/309, Tue 6. 4. 11:00–12:40 F01B1/309, Tue 20. 4. 11:00–12:40 F01B1/309, Tue 4. 5. 11:00–12:40 F01B1/309, Tue 18. 5. 11:00–12:40 F01B1/309, Tue 1. 6. 11:00–12:40 F01B1/309
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
Course objectives
The course provides an overview of the current knowledge of medical genetics and its interdisciplinary character. Recent and modern concepts of genetic disorders, prevention of genetic diseases and congenital defects and relevant modern diagnostic methods are presented to students. Genetic counseling and available examination methods are discussed. The subject matter presented in this course will help to better understand other required subjects.
Learning outcomes
Upon successful completion of this course, the student will know: •the genetic and molecular basis of heredity and inherited traits •how genetics & genomics reveals an understanding of the human condition, including genetic diseases, cancer, and human evolution, •how genetics research and genetics diagnostics are leading to improvements to human health •current ethical, social and legal discussions related to human genetics.
Syllabus
  • Introduction to medical genetics – indication for genetic examination - ethical and legal issues in medical genetics – indications for genetic examination – clinical manifestations of hereditary genetic disorders – indications for genetic counseling – frequent inherited chromosomal abnormalities – clinical manifestations diagnostics and counseling of chromosomal abnormalities – microcytogenetics – oncocytogenetics – DNA/RNA diagnostics - teratogenes – pharmacogenetics - genetic counseling in oncology – hereditary tumors
Literature
  • D.J.Pritchard, B.R.Korf: Základy lékařské genetiky, Galén 2007
  • Nussbaum, Mc Illnes, :Thompson & Thompson: Klinická genetika, 2004
  • Sršeň, Sršňová: Základy klinickej genetiky, Martin 2000
  • MICHALOVÁ, Kyra. Úvod do lidské cytogenetiky. Vyd. 1. V Brně: Institut pro další vzdělávání pracovníků ve zdravotnictví v Brně. 172 s. ISBN 8070132817. 1999. info
  • ŠMARDA, Jan. Člověk v proudu dědičnosti (Geny v lidském zdraví a nemoci) (Man in the stream of heredity). Praha: Grada-Avicenum. 136 pp. ISBN 80-7169-768-0. 1999. info
  • ŽIŽKA, Jan. Diagnostika syndromů a malformací. 1. vyd. Praha: Galén. 414 s. ISBN 80-85824-04-3. 1994. info
  • SLABÝ, ET AL., Ondřej. Molekulární medicína. ISBN 978-80-7492-121-6. 2015. info
  • KOČÁREK, Eduard. Genetika : obecná genetika a cytogenetika, molekulární biologie, biotechnologie, genomika. Illustrated by Jan Maget. 2. vydání. Praha: Scientia. 211 stran. ISBN 9788086960364. 2008. info
  • SNUSTAD, D. Peter and Michael J. SIMMONS. Genetika. Edited by Jiřina Relichová. 2. aktual. vyd. Brno: Masarykova univerzita. 864 pp. ISBN 978-80-210-8613-5. 2017. info
  • PRITCHARD, D. J. and Bruce R. KORF. Medical genetics at a glance. Third edition. Oxford: John Wiley. 231 stran. ISBN 9780470656549. 2013. info
Teaching methods
lecture
Assessment methods
credit
Language of instruction
Czech
Further comments (probably available only in Czech)
Study Materials
Information on the extent and intensity of the course: 15.
The course is also listed under the following terms Spring 2008, Spring 2009, Spring 2010, Spring 2011, Spring 2012, Spring 2013, Spring 2014, Spring 2015, Spring 2016, Spring 2017, Spring 2018, spring 2019, spring 2020, spring 2022, spring 2023, spring 2024.
  • Enrolment Statistics (spring 2021, recent)
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