|
|
|
||
Last update: RNDr. Zdeňka Polívková (16.03.2009)
|
|
||
Last update: RNDr. Zdeňka Polívková (16.03.2009)
Students will be able to understand principles of heredity of human diseases, they will know the most frequent genetic diseases and chromosomal abnormalities. They will be able to understand bases of diseases origin, the role of environmental factors, mutagenic, carcinogenic and teratogenic effects of environmental factors, they will understand biological mechanisms of tumor origin, basis of immunity. Students will have concrete knowledge about possibilities of prevention of genetic diseases, about methods of genetic counselling, primary and secondary prevention, prenatal diagnosis and this problems explain to the patient.
|
|
||
Last update: DEMOVA (04.03.2009)
Basic textbooks: Thompson & Thompson: Genetics in Medicine, 6th edition, Elsevier 2004 Complementary and facultative textbooks: Mueller RF, Young ID: Emery?s Elements of Medical Genetics, 11th edit., Churchill Livingstone 2002 Gelehrter TD, Collins FS, Ginsburg D: Principles of Medical Genetics, 2nd edit., Williams & Wilkins 1998 Sack Jr GH: Medical Genetics, McGraw-Hill 1999 |
|
||
Last update: DEMOVA (24.11.2008)
lectures/seminars |
|
||
Last update: DEMOVA (06.11.2008)
Requirements for the Credit:
10 questions from each lecture |
|
||
Last update: RNDr. Zdeňka Polívková (16.03.2009)
Genetic disorders
Cases of single genetic diseases: (pedigree, clinical manifestation, diagnosis, complication, prognosis, prevention, therapy)
The birth defects, the primary and secondary prevention Some case reports from the medical (clinical genetics) praxis: Hajdu |Cheney syndrome , Pierre Robin anomaly, Stickler syndrome, Cerebrocostomandibular syndrome, Nevoid basal cell carcinoma syndrome, families with multiple idiopathic impactions of teeth, the amelogenesis, dentinogenesis and osteogenesis imperfecta, Beckwith-Wiedemann syndrome Syndromology and symptomatology, the chromosomal aberrations
Review of pathological karyotypes (numerical and structural chromosomal aberrations), prenatal cytogenetic diagnosis, indications for postnatal and prenatal cytogenetic examination, chromosomal abnormalities in tumors, "breakage" syndromes, chromosomal abnormalities and infertility, microdeletion syndromes, dynamic mutations, gene imprinting and human pathologies, role of cytogenetics in clinical genetics.
Causes of tumor diseases, genetic counselling in tumor diseases, genetic counselling in families with hereditary forms of malignancy: hereditary breast and ovarian cancer, familiar adenomatous polyposis, hereditary nonpolyposis colorectal cancer (Lynch syndrome), Li-Fraumeni syndrome
|