STKG7X1 Clinical Genetics

Faculty of Medicine
Spring 2009
Extent and Intensity
0/1/0. 1 credit(s). Type of Completion: k (colloquium).
Teacher(s)
MUDr. Renata Gaillyová, Ph.D. (seminar tutor)
MUDr. Šárka Prášilová (seminar tutor)
doc. MUDr. Dalibor Valík, Ph.D., DABCC (seminar tutor)
RNDr. Alexandra Oltová (seminar tutor)
RNDr. Iveta Valášková, Ph.D. (seminar tutor)
RNDr. Jitka Kadlecová, Ph.D. (seminar tutor)
Ing. Lucia Ráheľová (assistant)
Guaranteed by
prof. Ing. Petr Dvořák, CSc.
Department of Biology - Theoretical Departments - Faculty of Medicine
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 clinical 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. As an extension of these topics, ethical, juridical and psychosocial issues are discussed. The subject matter presented in this course will help to better understand other medical subjects including internal medicine, neurology, surgery etc.
Syllabus
  • Principles of clinical genetics - standard karyotype and its abnormalities - indication criteria for prenatal and postnatal karyotype examination - prenatal cytogenetic methods - prenatal screening examinations – chromosomal aberrations – chromosome instability – principles of DNA diagnostics - prenatal diagnostics using methods of molecular genetics – gene therapy and mapping of the human genome – principles of oncocytogenetics – genetic counseling - case reports.
Literature
  • Základem studia je látka přednášená na přednáškách a probíraná na seminářích a stážích z klinické genetiky a materiály v IS.
  • 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
  • KUČEROVÁ, Maria. Vrozené a získané poruchy lidských chromosomů [Kučerová, 1988]. Praha: Avicenum, 1988. info
  • HYÁNEK, Josef. Klinické a biochemické aspekty vrozených metabolických poruch. 1. vyd. Praha: Avicenum, 1980. 280 s. info
  • 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
  • Vojtíšková M.: Klinická molekulární genetika, IDVPZ Brno, 1999
  • 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
  • Pokroky v lékařské genetice. Edited by Jan Kapras. 1. vyd. Praha: Avicenum, 1992. 141 s. ISBN 80-85047-10-1. info
  • ŽIŽKA, Jan. Diagnostika syndromů a malformací. 1. vyd. Praha: Galén, 1994. 414 s. ISBN 80-85824-04-3. info
Assessment methods
Written examination - colloquium - test form.
Language of instruction
Czech
The course is also listed under the following terms Spring 2000, Autumn 2000, Spring 2001, Autumn 2001, Spring 2002, Autumn 2002, Spring 2003, Autumn 2003, Spring 2004, Autumn 2004, Spring 2005, Autumn 2005, Spring 2006, Autumn 2006, Spring 2007, Autumn 2007, Spring 2008, Autumn 2008, Autumn 2009, Spring 2010.
  • Enrolment Statistics (Spring 2009, recent)
  • Permalink: https://is.muni.cz/course/med/spring2009/STKG7X1