EMLG0421s General and Medical Genetics I - seminar

Faculty of Medicine
spring 2025
Extent and Intensity
0/2/0. 2 credit(s). Type of Completion: zk (examination).
Teacher(s)
RNDr. Iveta Valášková, Ph.D. (lecturer)
Mgr. Hana Filková (lecturer)
prof. RNDr. Mgr. Marie Jarošová, CSc. (lecturer)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
MUDr. Jana Šoukalová (lecturer)
Mgr. Hana Svobodová (lecturer)
MUDr. Romana Gerychová (lecturer)
Mgr. Eva Hladílková, Ph.D. (lecturer)
Mgr. Rostislav Navrátil, Ph.D. (lecturer)
doc. MUDr. Peter Rohoň, Ph.D. (lecturer)
Bc. Kateřina Stehlíková, DiS. (assistant)
prof. MUDr. Michael Doubek, Ph.D. (lecturer)
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)
EMBI0222p Biology II - lecture && EMHE0322c Histology and Embryology II - practice
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 subject introduces basic knowledge in the field of clinical genetics. The goal is to get a basic overview of the field of clinical genetics, to learn the basic rules of inheritance of traits and diseases, to outline the basics of applied genetics in medicine, to get a basic overview of the methods of clinical cytogenetics and molecular cytogenetics, to get a basic overview of the DNA methods of diagnosis of serious hereditary diseases disease and get a basic overview of genetic counseling options.
Learning outcomes
The student will know:
- basic concepts and diagnoses in medical genetics After completing the course, the student will be able to:
- clarify the type of inheritance of the disease
- determine biological material for genetic examination
- propose an investigative method for genetic analysis
Syllabus
  • General, special theoretical part
  • Introduction to genetics, general genetics, history
  • Primary and secondary genetic prevention, options for genetic examinations, spectrum of genetic counseling patients, Mendelian inheritance
  • Gene structure, genetic code, disorders in genes, types of mutations, gene linkage, map, character association
  • Direct and indirect DNA diagnostics, informativeness of families
  • Prenatal diagnostics at the molecular level
  • RNA diagnostics, molecular genetics and gene therapy
  • Monogenically determined diseases
  • Hereditary disorders of metabolism
  • Cytogenetics - postnatal, prenatal, oncocytogenetics
  • Congenital chromosomal aberrations of autonomies, congenital chromosomal aberrations of gonosomes
  • Microdeletion syndromes
  • Molecular cytogenetic examinations
  • Reproductive genetics, prenatal diagnosis
  • Syndromology, complex heredity, congenital developmental defects
  • Genetic counseling, genetic prognosis
  • Genetic testing - diagnostic, presymptomatic, predictive, prenatal, preimplantation
  • Genetic counseling in oncology
  • Ethics and legal norms in medical genetics
  • The theoretical part is methodological
  • Basics of laboratory work in the cytogenetic laboratory, biological material for cytogenetic examination
  • Basics of molecular cytogenetic methods
  • Processing of cytogenetic preparations for prenatal, postnatal and oncological cytogenetic diagnosis
  • Processing of cytogenetic preparations for molecular cytogenetic examinations
  • Long-term cultivation in  cytogenetics
  • CGH, SKY, FISH, M-FISH, array-CGH methods
  • Basics of laboratory work in the DNA diagnostic laboratory
  • Basic methods used in the DNA diagnostics laboratory
  • Good Laboratory Practice
  • System of internal and external quality control
  • DNA bank, patient registries at the Department of Medical Genetics
Literature
    recommended literature
  • PRITCHARD, D. J. and Bruce R. KORF. Základy lékařské genetiky. první české vydání. Praha: Galén, 2007, 182 stran. ISBN 9788072624492. 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. 1. vyd. Praha: Grada, 1999, 135 s. ISBN 8071697680. info
  • VOJTÍŠKOVÁ, Marie. Klinická molekulární genetika. Vyd. 1. Brno: Institut pro další vzdělávání pracovníků ve zdravotnictví, 1999, 75 s. ISBN 8070132922. info
  • MICHALOVÁ, Kyra. Úvod do lidské cytogenetiky. Brno: IDVPZ, 1999. info
  • SRŠEŇ, Štefan and Klára SRŠŇOVÁ. Základy klinickej genetiky. 2. preprac. a rozš. vyd. Martin: Vydavateľstvo Osveta, 1995, 259 s. ISBN 8021704772. info
  • Practical genetic counselling. Edited by Peter S. Harper. 4th ed. Oxford: Butterworth-Heinemann, 1993, 348 s. ISBN 0-7506-0928-1. 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. Praha: Avicenum, 1980. info
Teaching methods
The basis of the study is the material presented at lectures and discussed at seminars and internships in clinical genetics and materials in IS.
Assessment methods
Written exam.
Language of instruction
Czech
Further comments (probably available only in Czech)
Information on the extent and intensity of the course: 30.
Listed among pre-requisites of other courses
The course is also listed under the following terms spring 2022, spring 2023, spring 2024.
  • Enrolment Statistics (spring 2025, recent)
  • Permalink: https://is.muni.cz/course/med/spring2025/EMLG0421s