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Clinical Genetics

Class at First Faculty of Medicine |
B81311

Syllabus

* 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

Annotation

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.