LF:VLKG7X1p Clinical Genetics - lecture - Course Information
VLKG7X1p Clinical Genetics - lecture
Faculty of Medicinespring 2022
- Extent and Intensity
- 0.6/0/0. 1 credit(s). Type of Completion: k (colloquium).
- Teacher(s)
- prof. MUDr. Michael Doubek, Ph.D. (lecturer)
prof. RNDr. Šárka Pospíšilová, Ph.D. (lecturer)
doc. MUDr. Dagmar Procházková, Ph.D. (lecturer)
RNDr. Iveta Valášková, Ph.D. (lecturer)
MUDr. Jakub Trizuljak (lecturer)
prof. RNDr. Mgr. Marie Jarošová, CSc. (lecturer)
doc. RNDr. Lenka Fajkusová, CSc. (lecturer)
MUDr. Jana Šoukalová (lecturer)
doc. RNDr. Petra Bořilová Linhartová, Ph.D., MBA (lecturer)
prof. MVDr. RNDr. Petr Hořín, CSc. (lecturer)
Mgr. Marta Navaříková (lecturer)
Mgr. Karla Plevová, Ph.D. (lecturer)
Mgr. Hana Filková (lecturer)
Bc. Kateřina Stehlíková, DiS. (assistant) - Guaranteed by
- prof. MUDr. Michael Doubek, 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 - Prerequisites (in Czech)
- VLLM0522p Medical Microbiology II - lect && VLIM051p Immunology - lecture && VLLP0633c Clinical Introduction III - practice && VLPA0622p Pathology II - lecture
- 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
- General Medicine (programme LF, M-VL) (2)
- 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.
- Learning outcomes
- Student will be able to:
- to examine the patient with suspected genetic disease
- build a lineage
- to indicate the tests that will lead to the diagnosis of genetic diseases
- Have a basic overview of cytogenetic and molecular biological methods
- have a basic overview of the types of inheritance and the most important inherited diseases - 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, Štefan and Klára SRŠŇOVÁ. Základy klinickej genetiky. 2. preprac. a rozš. vyd. Martin: Vydavateľstvo Osveta, 1995, 259 s. ISBN 8021704772. info
- KUČEROVÁ, Maria. Vrozené a získané poruchy lidských chromosomů. 2., dopl. vyd. Praha: Avicenum, 1988, 177 s. URL 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
- Practical genetic counselling. Edited by Peter S. Harper. 4th ed. Oxford: Butterworth-Heinemann, 1993, 348 s. ISBN 0-7506-0928-1. info
- Atlas klinických syndromů :pro kliniku a praxi. Edited by H.-R Wiedemann - J. Kunze - F.-R Grosse, Translated by Miloslav Navrá. 1. vyd. Martin: Osveta, 1996, xxvii, 684. ISBN 80-217-0517-5. info
- George H. Sack, Jr. : Medical Genetics
- Teaching methods
- one-hour lecture per week
- Assessment methods
- written colloquium, for giving of course-unit credit is necessary full attendance in the lessons
- Language of instruction
- Czech
- Further comments (probably available only in Czech)
- Study Materials
The course is taught: every week.
Information on the extent and intensity of the course: 8.5.
- Enrolment Statistics (spring 2022, recent)
- Permalink: https://is.muni.cz/course/med/spring2022/VLKG7X1p