BLKG0311 Clinical Genetics

Faculty of Medicine
autumn 2023
Extent and Intensity
2/0/0. 3 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. Hana Filková (lecturer)
prof. RNDr. Mgr. Marie Jarošová, CSc. (lecturer)
MUDr. Jana Šoukalová (lecturer)
MUDr. Rastislav Beharka (lecturer)
Mgr. Iva Synková, Ph.D. (lecturer)
Bc. Kateřina Stehlíková, DiS. (assistant)
Mgr. Markéta Wayhelová, Ph.D. (lecturer)
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 16:00–17:40 KOM 409
Prerequisites
BLMB011p Mol.andCell.Biol.-lect.
completed education - secondary graduate, adequate knowledge of biology and genetics
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
This subject offers basic knowledge about clinical genetics, about main genetic features of signs and diseases and introduces genetic medical applications. Students obtain basic overview in clinical cytogenetis methods and mulecular cytogenetics, DNA-diagnostic methods of inherited diseases and possibilities of genetic counselling.
Learning outcomes
student knows the basic concepts and diagnosis in medical genetics student will be able - to clarify the type of inheritance - to determine biological materiál for genetic tests - to propose a testing method for genetic analysis
Syllabus
  • Theory - general and special Introduction to genetics, general genetics, history primary and secondary genetic prevention, genetic examination, typical patients in need of genetic couselling, Mendelian inheritance gene - structure, genetic code, gen defects, types of mutations, gene linkage, gene maps, characters association direct and indirect DNA diagnostics, informativity of families, prenatal molecular diagnostics RNA diagnostics, molecular genetics and therapy monogenic diseases inherited metabolic defects Cytogenetics - postnatal, prenatal Oncocytogenetics ongenital chromosomal aberations od autosomes and gonosomes Microdeletions/microduplications Molecular-cytogenetics Reproductive genetics Prenatal diagnostics, Sydromology, complex inheritance, congenital developmental defects Clinical genetics Genetic counselling, genetic prognosis Genetic testing (diagnostic, predictive, presymtomatic, prenatal, pre-implantation) Genetic counselling in oncology, Ethics and legal standards in clinical genetics Theory - methodology basics of laboratory technics at cytogenetic laboratory, biological material for cytogenetic examination basics of molecular cytogenetic methods processing of cytogenetic specimens for prenatal, postnatal and oncological cytogenetic diagnostics processing of cytogenetic specimens for molecular cytogenetic examinations long-term cultivation in cytogenetics Methods CGH, SKY, FISH, M-FISH, array-CGH basics of laboratory technics in DNA diagnostics basic methods performed in DNA laboratory Good laboratory practice, system of internal and external quality control DNA-banking, Registers of patients at the department of medical genetics.
Literature
    recommended literature
  • www.eurgentest.org
  • www.novorozeneckyscreening.cz
  • http://vzacna-onemocneni.cz
  • SNUSTAD, D. Peter and Michael J. SIMMONS. Genetika. Edited by Jiřina Relichová. 2. aktual. vyd. Brno: Masarykova univerzita, 2017, 864 pp. ISBN 978-80-210-8613-5. info
  • SLABÝ, ET AL., Ondřej. Molekulární medicína. 2015. ISBN 978-80-7492-121-6. info
  • DASTYCH, Milan. Instrumentální technika : obor zdravotní laborant. 2., dopl. vyd. Brno: Masarykova univerzita, 2014, 201 s. ISBN 9788021071032. info
  • POSPÍŠILOVÁ, Šárka, Dana DVOŘÁKOVÁ and Jiří MAYER. Molekulární hematologie (Molecular hematology). Praha: Galén, 2013, 316 pp. 1. ISBN 978-80-7262-942-8. 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
  • ŽIŽKA, Jan. Diagnostika syndromů a malformací. 1. vyd. Praha: Galén, 1994, 414 s. ISBN 80-85824-04-3. info
Teaching methods
two-hour lecture per week
Assessment methods
examination
Language of instruction
Czech
Further comments (probably available only in Czech)
Study Materials
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 Autumn 2006, Autumn 2007, Autumn 2008, Autumn 2009, Autumn 2010, Autumn 2011, Autumn 2012, Autumn 2013, Autumn 2014, Autumn 2015, Autumn 2016, Autumn 2017, autumn 2018, autumn 2019, autumn 2020, autumn 2021, autumn 2022, autumn 2024.
  • Enrolment Statistics (autumn 2023, recent)
  • Permalink: https://is.muni.cz/course/med/autumn2023/BLKG0311