aVLKG7X1c Clinical Genetics - practice

Faculty of Medicine
spring 2024
Extent and Intensity
0/1/0. 1 credit(s). Type of Completion: z (credit).
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
Timetable of Seminar Groups
aVLKG7X1c/31: Mon 6. 5. 7:30–12:30 FDN N01051, Tue 7. 5. 7:30–12:30 FDN N01051
aVLKG7X1c/33: Mon 6. 5. 7:30–12:30 FDN N01051, Tue 7. 5. 7:30–12:30 FDN N01051
aVLKG7X1c/35: Mon 6. 5. 7:30–12:30 FDN N01051, Tue 7. 5. 7:30–12:30 FDN N01051
Prerequisites (in Czech)
aVLLM0522p Medical Microbiology II - lect && aVLIM051p Immunology - lecture && aVLLP0633c Clinical Introduction III - p && aVLPA0622p 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
Course objectives
The course provides an overview of the methods used in laboratories of clinical genetics including prenatal cytogenetics, postnatal cytogenetics, cytogenetics in oncology, molecular cytogenetics and modern DNA and RNA diagnostic methods. In addition, genetic counseling and selected model case reports are presented to students. The subject matter presented in this course will help to better understand other medical subjects including internal medicine, neurology, surgery etc. Visit to Mendel's museum in Brno.
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
Practical training
Assessment methods
for giving of course-unit credit is necessary full attendance in the lessons.
Language of instruction
English
Further comments (probably available only in Czech)
Information on the extent and intensity of the course: 15.
Listed among pre-requisites of other courses
The course is also listed under the following terms Autumn 2017, Spring 2018, autumn 2018, spring 2019, autumn 2019, spring 2020, autumn 2020, spring 2021, autumn 2021, spring 2022, autumn 2022, spring 2023, autumn 2023, autumn 2024, spring 2025.
  • Enrolment Statistics (spring 2024, recent)
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