Genetics (RPE_035)
About Study Course
Objective
To ensure acquisition and improvement of theoretical knowledge and practical skills in accordance with the general concept on congenital genetic diseases pursuant to the Regulations of Pediatric Speciality, allowing the practitioner to demonstrate competence when reading literature or coming across in clinical practice, to be able to refer a patient to a specialist when necessary, and to provide emergency aid in acute situations.
Learning outcomes
1.During acquisition of the study course a resident acquires basic knowledge on the most common genetic diseases and conditions, their aetiology, pathogenesis, clinical expressions, diagnostic testing algorithms and treatment principles.
1.Following acquisition of the study course the resident will be able to carry out examination and evaluation of the objective clinical condition of a child based upon the age of the child, to gather comprehensive anamnesis of his/her life, family and illnesses, to draw up examination plan, to order additional diagnostic examinations and to evaluate their results.
1.Upon successful completion of the study course the resident acquires mandatory competence of a certified paediatrician. The necessary level of competence varies for various cases of genetic diseases and is provided in the table below.
The competence levels are the following:
1st level: acquired knowledge complies with general concept of the subject matter, allowing the practitioner to understand the situation by reading literature or when coming across in practice, by engaging in purposeful search for necessary additional information and referring the patient to a specialist, when necessary.
2nd level: acquired knowledge on the particular matter is sufficient for understanding its nature, to diagnose the problem and provide emergency aid, when necessary, refer to a specialist, as well as to carry out diagnostics, treatment and prevention under the supervision of a specialist.
3rd level: acquired knowledge allows the practitioner to solve the particular problem independently.
Integration of Genetics Into Pediatric Practice 2
2. The Genetic Approach in Pediatric Medicine 2
3. The Human Genome 2
4. Patterns of Genetic Transmission 2
5. Cytogenetics 2
6. Genetics of Common Disorders 2
7. Epigenetics 2
8. Genetic Approaches to Rare and Undiagnosed Diseases 2
9. An Approach to Inborn Errors of Metabolism 2
