BDLG021 Medical genetics

Faculty of Medicine
Spring 2018
Extent and Intensity
0/0.4/0. 1 credit(s). Type of Completion: z (credit).
Teacher(s)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
Mgr. Marta Navaříková (lecturer)
MUDr. Šárka Prášilová (lecturer)
MUDr. Jana Šoukalová (lecturer)
RNDr. Iveta Valášková, Ph.D. (lecturer)
Guaranteed by
MUDr. Renata Gaillyová, Ph.D.
Department of Internal Medicine, Hematology and Oncology – Joint workplaces with the University Hospital Brno - workplaces of the Bohunice and Mater. Hospital – Faculty of Medicine
Contact Person: MUDr. Renata Gaillyová, Ph.D.
Supplier department: Department of Internal Medicine, Hematology and Oncology – Joint workplaces with the University Hospital Brno - workplaces of the Bohunice and Mater. Hospital – 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 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
  • J. Fendrychová, I. Borek a kol.: Intenzivní péče o novorozence.
  • Další literatura: D.J.Pritchard, B.R. Korf: Základy klinické genetiky, Galén 2007.
  • SRŠEŇ, Štefan and Klára SRŠŇOVÁ. Základy klinickej genetiky a jej molekulárna podstata. 4., přepr. a rozš. vyd. Martin: Osveta, 2005, 445 s. ISBN 8080631859. info
  • NUSSBAUM, Robert L., Roderick R. MCINNES, Huntington F. WILLARD, James THOMPSON and Margaret Wilson THOMPSON. Klinická genetika : Thompson & Thompson. Translated by Petr Goetz. Vyd. 1. Praha: Triton, 2004, 426, lix. ISBN 8072544756. 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
  • MICHALOVÁ, Kyra. Úvod do lidské cytogenetiky. Brno: IDVPZ, 1999. info
  • ŽIŽKA, Jan. Diagnostika syndromů a malformací. 1. vyd. Praha: Galén, 1994, 414 s. ISBN 80-85824-04-3. info
Teaching methods
lecture
Assessment methods
written test
Language of instruction
Czech
Further comments (probably available only in Czech)
The course is taught annually.
The course is taught: in blocks.
Information on the extent and intensity of the course: 6 hodin celkem.
The course is also listed under the following terms Spring 2009, Spring 2010, Spring 2011, Spring 2012, Spring 2013, Spring 2014, Spring 2015, Spring 2016, Spring 2017, spring 2019, spring 2020.
  • Enrolment Statistics (Spring 2018, recent)
  • Permalink: https://is.muni.cz/course/med/spring2018/BDLG021