LF:BLKG0311 Clinical Genetics - Course Information
BLKG0311 Clinical Genetics
Faculty of Medicineautumn 2024
- 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)
Mgr. Eva Hladílková, 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
- Medical Laboratory Technologist (programme LF, B-LABD)
- Laboratory Assistant (programme LF, B-SZ)
- 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)
- Information on the extent and intensity of the course: 30.
- Listed among pre-requisites of other courses
- Enrolment Statistics (recent)
- Permalink: https://is.muni.cz/course/med/autumn2024/BLKG0311