BSLG021p Medical Genetics - lecture

Faculty of Medicine
Spring 2009
Extent and Intensity
1/0/0. 1 credit(s). Type of Completion: z (credit).
Teacher(s)
MUDr. Šárka Prášilová (lecturer)
RNDr. Iveta Valášková, Ph.D. (lecturer)
Mgr. Marta Navaříková (lecturer)
Ing. Lucia Ráheľová (assistant)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
Guaranteed by
MUDr. Renata Gaillyová, Ph.D.
Department of Biology – Theoretical Departments – Faculty of Medicine
Contact Person: MUDr. Renata Gaillyová, Ph.D.
Timetable
each odd Tuesday 10:20–12:00 KOM 257
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.
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, 1999, 172 s. ISBN 8070132817. info
  • ŠMARDA, Jan. Člověk v proudu dědičnosti (Geny v lidském zdraví a nemoci) (Man in the stream of heredity). Praha: Grada-Avicenum, 1999, 136 pp. ISBN 80-7169-768-0. info
  • ŽIŽKA, Jan. Diagnostika syndromů a malformací. 1. vyd. Praha: Galén, 1994, 414 s. ISBN 80-85824-04-3. info
Assessment methods
credit - written test
Language of instruction
Czech
Further comments (probably available only in Czech)
Study Materials
The course is also listed under the following terms Spring 2008, Spring 2010, Spring 2011, Spring 2012, Spring 2013, Spring 2014, Spring 2015, Spring 2016, Spring 2017, Spring 2018, spring 2019, spring 2020, spring 2021, spring 2022, spring 2023, spring 2024, spring 2025.
  • Enrolment Statistics (Spring 2009, recent)
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