ZLKG0911s Bases of Clinical Genetics - seminar

Faculty of Medicine
autumn 2022
Extent and Intensity
0/1/0. 1 credit(s). Type of Completion: k (colloquium).
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)
MUDr. Renata Gaillyová, Ph.D. (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. Markéta Wayhelová, Ph.D. (lecturer)
Mgr. Hana Filková (lecturer)
MUDr. Rastislav Beharka (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
ZLKG0911s/21: Mon 12. 12. 7:30–10:00 F01B1/309, Tue 13. 12. 7:30–10:00 F01B1/309, Wed 14. 12. 7:30–10:00 F01B1/309, Thu 15. 12. 7:30–10:00 F01B1/309, Fri 16. 12. 7:30–10:00 F01B1/309
ZLKG0911s/22: Mon 12. 12. 7:30–10:00 F01B1/309, Tue 13. 12. 7:30–10:00 F01B1/309, Wed 14. 12. 7:30–10:00 F01B1/309, Thu 15. 12. 7:30–10:00 F01B1/309, Fri 16. 12. 7:30–10:00 F01B1/309
Prerequisites (in Czech)
ZLGE061p Genetics in Dentistry- lect. && ZLOR0843c Orthodontics III - pract. && ZLPF0622p Pathophysiol. II - lect. && ZLLM0522p Medical Microbiology II-lect. && ZLPD0833c Periodontology III - pract.
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 aim of the subject is to make acquaintance with the problematic of genetic consultations, principles and approaches, ethic problems, basic classification of genetic diseases, the possibility of prenatal and postnatal diagnostics of inherited development disorders and genetic diseases, basic legal norms in genetic consultations. The lessons are also oriented to the possibility of collaboration of dental physicians and stomatologists with the subject Clinical genetics by the summary of basic problematic of inherited development defects and genetically conditioned diseases of head and neck regions and syndromes with craniofacial manifestations
Learning outcomes
The student knows the basic concepts in medical genetics The student is able to recommend genetic testing to a patient with suspected hereditary disease
Syllabus
  • clinical genetics, genetic counselling – approaches, principles, indication for investigation in genetic advice centre,primary and secondary genetic prevention, clinical symptoms of the most often occurring inherited chromosomal aberrations,acquired chromosomal aberrations, prenatal screening,indications for prenatal and postnatal cytogenetic investigation, prenatal diagnostic methods, preimplantation genetic diagnostic, genetic consultation by reproduction disorders, monogenic heredity, basic types of Mendelian inheritance,examples of diseases with monogenic heredity, possibility of postnatal and prenatal DNA diagnostics, principles of oncogenetics, complex inheritance, the most common inherited development disorders with complex heredity, well-known teratogens in gravidity, ethics and legal norms in genetic counselling, anomaly of dentice, jaw-bone, congenital malformations of head and neck, craniofacial syndromes
Literature
  • PRITCHARD, Dorian J. and Bruce R. KORF. Základy lékařské genetiky. Druhé české vydání. Praha: Galén, 2021, 242 stran. ISBN 9788074925139. info
  • HARPER, Peter S. Practical genetic counselling. 7th ed. London: Hodder Arnold, 2010, 407 s. ISBN 9780340990698. info
  • 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
  • ŽIŽKA, Jan. Diagnostika syndromů a malformací. 1. vyd. Praha: Galén, 1994, 414 s. ISBN 80-85824-04-3. info
Teaching methods
seminar, the seminar courses are conducted as lectures on the given theme with following discussion
Assessment methods
colloquium take place as written test, the condition is 100 % attendance at the seminar courses
Language of instruction
Czech
Further comments (probably available only in Czech)
Study Materials
The course is taught annually.
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 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 2023, autumn 2024.
  • Enrolment Statistics (autumn 2022, recent)
  • Permalink: https://is.muni.cz/course/med/autumn2022/ZLKG0911s