MBLG071p Medical genetics - lectures

Faculty of Medicine
autumn 2020
Extent and Intensity
2/0/0. 4 credit(s). Type of Completion: zk (examination).
Teacher(s)
prof. MUDr. Michael Doubek, Ph.D. (lecturer)
RNDr. Iveta Valášková, Ph.D. (lecturer)
MUDr. Renata Gaillyová, Ph.D. (lecturer)
Mgr. Marta Navaříková (lecturer)
Mgr. Hana Filková (lecturer)
prof. RNDr. Mgr. Marie Jarošová, CSc. (lecturer)
MUDr. Jana Šoukalová (lecturer)
MUDr. Rastislav Beharka (lecturer)
Mgr. Iva Synková, Ph.D. (lecturer)
prof. RNDr. Jana Šmardová, CSc. (lecturer)
Bc. Kateřina Stehlíková, DiS. (assistant)
Guaranteed by
RNDr. Iveta Valášková, 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
Wed 7. 10. 10:00–12:30 KOM S116, Wed 14. 10. 10:00–12:30 KOM S116, Wed 21. 10. 10:00–12:30 KOM S116, Wed 4. 11. 10:00–12:30 KOM S116, Wed 11. 11. 10:00–12:30 KOM S116, Wed 18. 11. 10:00–12:30 KOM S116, Wed 25. 11. 10:00–12:30 KOM S116, Wed 2. 12. 10:00–12:30 KOM S116, Wed 9. 12. 10:00–12:30 KOM S116, Wed 13. 1. 10:00–12:30 KOM S116, Wed 20. 1. 10:00–12:30 KOM S116
Prerequisites
completed undergraduate studies (disciplines: biology, molecular biology, biochemistry etc.)
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 acquaints students with basic knowledge on the field of clinical genetics The aim is to get a basic overview of clinical genetics, to learn the basic rules of inheritance of signs and diseases, to outline the basics of applied genetics in medicine. To get a basic overview of clinical cytogenetics and molecular cytogenetics. To obtain a basic overview of DNA diagnostics of serious inherited diseases. Obtain a basic overview of the possibilities of genetic counseling. Upon completion of the course the student will be able to join the laboratory teams of clinical genetics. The acquired knowledge and practical skills will be able to apply in the laboratory procedures in cytogenetics and molecular cytogenetics, including DNA analysis techniques.
Learning outcomes
Upon completion of the course the student will be able to join the laboratory teams of clinical genetics. The acquired knowledge and practical skills will be able to apply in the laboratory procedures in cytogenetics and molecular cytogenetics, including DNA analysis techniques.
Syllabus
  • Theoretical part general, special Introduction to genetics, general genetics, history Primary and secondary genetic prevention, genetic screening options, genetic counselling to patients, Mendelian inheritance Gene structure, genetic code, gene disorders, types of mutations, gene binding, map, character association RNA diagnostics, molecular genetics and therapy Direct and indirect DNA diagnostics, family information, prenatal diagnostics at the molecular level Monogenic conditions Postnatal cytogenetics Prenatal cytogenetics Molecular cytogenetics Congenital chromosomal aberrations of autosomes Congenital chromosomal aberrations of gonosomes Prenatal diagnostics, reproductive genetics Syndrome, symptom Polygenic and multifactorial (complex) inheritance, congenital developmental defects Hereditary disorders of metabolism Onkogenetics, hereditary cancer syndromes. Forensic genetics. Clinical genetics - genetic counseling, genetic prognosis, presymptomatic and predictive testing Ethics, Legal Standards in Medical Genetics Theoretical part methodical Basics of laboratory work in cytogenetic laboratory, biological material for cytogenetic examination Fundamentals of molecular cytogenetic methods Treatment of cytogenetic preparations for prenatal, postnatal cytogenetic diagnostics Processing of cytogenetic preparations for molecular-cytogenetic examination Long-term cultivation in cytogenetics Methods FISH, M-FISH, array-CGH Fundamentals of laboratory work in DNA diagnostic laboratory Basic methods used in the DNA diagnostic laboratory Principles of proper laboratory work Internal and external quality control system DNA bank Registry of Patients in the Department of Medical Genetics
Literature
  • D.J.Pritchard, B.R. Korf: Základy klinické genetiky, Galén 2007
  • Hájek, Z., Kulovaný.E., Macek.M. : Základy prenatální diagnostiky, GRADA Publishing, spol.s.r.o., 2000
  • Nussbaum, Mc Illnes :Thompson & Thompson: Klinická genetika, 2004
  • 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
Teaching methods
lectures with the use of audiovisual aids (ppt presentations, commented videos) including interactive inputs
Assessment methods
oral examination
Language of instruction
Czech
Further comments (probably available only in Czech)
Information on the extent and intensity of the course: 30.
The course is also listed under the following terms Autumn 2015, Autumn 2016, Autumn 2017, autumn 2018, autumn 2019, autumn 2021, autumn 2022, autumn 2023, autumn 2024.
  • Enrolment Statistics (autumn 2020, recent)
  • Permalink: https://is.muni.cz/course/med/autumn2020/MBLG071p