Sylabus
* Theoretical part
Indications of genetic diagnostics
Genetic consultation
Genealogical assessment, establishing of genetic diagnosis and prognosis
Diagnostics and types of genetic diseases
Differential diagnostic methods of medical genetics
Ethical problems of medical genetics
Principles and examples of treatment of genetic conditions
Gene therapy and its perspectives
Perspectives and recent development of the field
Inborn errors of development, classification, aetiology
Teratogens and primary prevention of inborn errors of development
Monogenic type of inheritance (Mendelian diseases)
- OMIM (On line Mendelian Inheritace in Man)
- Postnatal population screening
Chromosomal aberrations
- Types, causes
Multifactorial inheritance
- Genetic principles of multifactorial inheritance
- The effect of environmental factors
- Civilization diseases
- Non-Mendelian inheritance
Syndromology in practice, diagnostic algorithm
- Mentally challenged child in family (interdisciplinary approach)
- Possibilities of assessment
- Family as information source and aid to reaching diagnosis
- Chromosomal aberrations (causes, phenotypic manifestation)
- Imprinting and related conditions, case studies, applications in medicine
Cytogenetic diagnostics
- techniques, methods
- indications
- diagnostic possibilities in clinical cytogenetics and practical applications in medicine
Prenatal diagnostics
- prenatal screening
- development of screening methods and their efficacy
- possibilities and caveats of prenatal diagnostics
- indications for invasive methods of prenatal diagnostics
Preimplantation diagnostics
Oncogenetics
- oncogenes, tumour suppressor genes, mutator genes
- presymptomatic diagnostics
- genetic consultation in cancer families
- indication criteria for laboratory assessment
Reproduction genetics
- meiosis, gametogenesis and their disturbances
- genetic causes of infertility
- chromosomal aberrations and their effect on fertility
- laboratory assessment repertoire
* Practical part participation at genetic counselling sessions at Department of Medical Genetics
Genealogical assessment, pedigree construction - independent work
Personal and family history taking - independent work
Informed consent
Visit in cytogenetics laboratory, practical application of selected steps of cytogenetic analysis
Visit in molecular genetics laboratory
Demonstration of result protocols of the selected molecular genetic diagnostic methods
Demonstration of results of selected cytogenetic methods analysed using computer-aided system of image processing
Case studies - demonstration
Interpretation of results of cytogenetic assessment, prognosis
Interpretation of results of molecular genetics assessment
Independent solution of most common situations in genetic counselling ward
Healthcare documentation
Economics in healthcare
Healthcare reporting
Organization and accessibility of genetic care in Czech, Slovak Republics and the EU
Anotace
Clinical genetics is an independent medical field. It studies both genetic and environmental factors underlying many human inherited diseases and inborn errors of development.
For diagnostics, prognosis, prevention and therapy it utilizes the knowledgebase of formal genetics, experimental genetics, methods of clinical genetic assessment and state-of-the-art laboratory-based methods, particularly those pertaining to the field of molecular genetics and cytogenetics. Registration and dispensarization of diseases and inborn errors forms an inherent part of clinical genetics.