Veidlapa Nr. M-3 (8)
Study Course Description

Medical Genetics for Paediatric Neurologists

Main Study Course Information

Course Code
RBO_037
Branch of Science
Anatomy; Clinical medicine
ECTS
6.00
Target Audience
Medicine
LQF
Level 8

Study Course Implementer

Course Supervisor

Residency Speciality

Speciality
Supervisor of Medical Speciality
Contacts

-

About Study Course

Objective

To ensure the acquisition and development of theoretical knowledge and practical skills in the field of paediatric medical genetics.

Learning Outcomes

Knowledge

1.To acquire knowledge about the principles of paediatric medical genetics, clinical manifestations of genetic diseases, diagnostic possibilities and differential diagnosis, genetic causes of paediatric neurological diseases.

Skills

1.Able to use theoretical knowledge and practical skills to prescribe genetic laboratory examinations and interpret results thereof, diagnose the most common genetic diseases, prescribe examinations to find out the genetic causes of paediatric nervous diseases.

Competences

1.Independently plans and organises the improvement and development of one’s professional competence. Formulates the choice of a genetic examination method for the diagnosis of genetic causes of paediatric nervous system diseases, critically analyses examination method results, integrates the knowledge of medical genetics in the development and expansion of the competence of the paediatric neurologist specialty.

Assessment

Individual work

Title
% from total grade
Grade
1.

Individual work

-
-
Getting acquainted with medical literature relevant to the course, analysis thereof, independent preparation for seminars, preparation of presentations on topics covered in seminars, current clinical cases.

Examination

Title
% from total grade
Grade
1.

Examination

-
-
Oral exam – analysis of a clinical case.

Study Course Theme Plan

FULL-TIME
Part 1
  1. Seminar

Modality
Location
On site
Specialized room

Topics

Diagnostic methods in genetics
  1. Seminar

Modality
Location
On site
Specialized room

Topics

Neurological diseases caused by metabolic disorders
  1. Seminar

Modality
Location
On site
Specialized room

Topics

Neurological syndromes associated with chromosomal pathology
  1. Seminar

Modality
Location
On site
Specialized room

Topics

Neurological syndromes associated with mitochondrial pathology
Total ECTS (Creditpoints):
6.00
Number of Residency Seminars:
4
Length (weeks):
4
Final Examination:
Residency exam (Theory and practice)

Bibliography

Required Reading

1.

Swaiman's Pediatric Neurology. 6th Edition, Kenneth Swaiman. 5th May 2017, Elsevier, 1432 lpp

2.

Fenichel's Clinical Pediatric Neurology. 7th Edition, A Signs and Symptoms Approach. By J Eric Piña-Garza 412 pages, 2013

3.

Thomas T. Warner, and Simon R. Hammans. Practical Guide to Neurogenetics. 2009, Elsevier

4.

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 6th Edition, Academic Press, July 7, 2020