aZLKG0911s Bases of Clinical Genetics - seminar

Faculty of Medicine
autumn 2024
Extent and Intensity
0/1/0. 1 credit(s). Type of Completion: k (colloquium).
In-person direct teaching
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. Hana Filková (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
Mon 23. 9. 8:00–10:30 A19/112, Tue 24. 9. 8:00–10:30 A19/112, Wed 25. 9. 8:00–10:30 A19/112, Thu 26. 9. 8:00–10:30 A19/112, Fri 27. 9. 8:00–10:30 A19/112
Prerequisites (in Czech)
aZLGE061p Genetics in Dentistry- lect. && aZLOR0843c Orthodontics III - pract. && aZLPF0622p Pathophysiology II - lecture && aZLLM0522p Medical Microbiology II-lect. && aZLPD0833c Periodontology III - pract. && aZLSP03X Individual project
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, ethical problems, basic classification of genetic diseases, the possibility of prenatal and postnatal diagnostics of inherited developmental disorders and genetic diseases, basic legal norms in genetic consultations. The lessons are also oriented to the possibility of a 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
- is able to recommend genetic testing to a patient with suspected hereditary disease
Syllabus
  • clinical genetics, genetic consultations – 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 examinations, indications for prenatal and postnatal cytogenetic investigation, prenatal diagnostic methods, preimplantation genetic diagnostic, genetic consultation by reproduction disorders, monogenic heredity, basic types of monogenic heredity, examples of diseases with monogenic heredity, the possibility of postnatal and prenatal DNA diagnostics, principles of oncogenetics, multifactorial heredity, the most common inherited development disorders with multifactorial heredity, well-known teratogens in gravidity,legal norms in genetic consultations, anomaly of dentice, jaw-bone, VVV regions of head and neck, craniofacial syndromes
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
  • 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
English
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 2017, autumn 2018, autumn 2019, autumn 2020, autumn 2021, autumn 2022, autumn 2023.
  • Enrolment Statistics (recent)
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