Genetics

Main Study Course Information

Course Code

RPE_018

Branch of Science

Clinical medicine; Paediatrics

ECTS

1.95

Target Audience

Medicine

LQF

Level 8

Study Course Implementer

Course Supervisor

Dace Gardovska

Residency Speciality

Speciality

Paediatrician

Supervisor of Medical Speciality

Dace Gardovska

Contacts

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

Knowledge

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.

Skills

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.

Competences

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

Assessment

Individual work

Title	% from total grade	Grade
1. Individual work	-	-
During the study course a resident has to acquire theoretical knowledge on the most common genetic diseases, their aetiology, pathogenesis, early diagnostics, emergency care, principles of treatment, diagnostic methods in genetic diseases, their indications and interpretation of results, concept of possibilities of social care, paying attention to tasks of a paediatrician-practitioner in care for such children to be able to theoretically justify actions in clinical practice in paediatrics, communication with doctors and parents of children.

Examination

Title	% from total grade	Grade
1. Examination	-	-
1) At the end of the cycle the lecturer gives an assessment of the practical skills in the 10- point grading scale, by entering the grade in the student’s gradebook. 2) Theoretical knowledge is assessed in written form; the 10-point grading system is used for knowledge assessment.