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

Genetics

Main Study Course Information

Course Code
RBE_006
Branch of Science
Clinical medicine; Medicinal Genetics
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 provide theoretical knowledge and practical skills in genetics and metabolic diseases, molecular diagnostic methods in the field of congenital diseases associated with endocrine syndromes area. Newborn screening. Students acquire genetic methods of investigation, the investigation of metabolic diseases algorithms.

Learning Outcomes

Knowledge

1.After a study of the course the resident will be able to carry out: congenital problem of early diagnosis, differential diagnosis, to understand the basic principles of treatment, patients in long-term surveillance tactics.

Skills

1.Completion of study course residents will be able to: - To evaluate the molecular diagnostic methods, genetic metabolic disease diagnosis. Diagnosed with endocrine diseases linked hereditary syndromes - Practical genetic and metabolic tests use children's endocrine and metabolic disease diagnosis.

Competences

1.By combining theoretical knowledge with practical skills, a resident will be able to implement them in a single integrative understanding of children's endocrine diseases in association with genetic diseases and syndromes, using the knowledge acquired children's endocrine pathology in the differential diagnosis.

Assessment

Individual work

Title
% from total grade
Grade
1.

Individual work

-
-
Residents prepare their own presentations for seminars according to thematic plans.

Examination

Title
% from total grade
Grade
1.

Examination

-
-
Residents prepare their own presentation for seminar according to thematic plans.
2.

Examination

-
-
- regular rotation and seminars, - active participation in seminars, - the end of the course the theoretical tests passed.

Study Course Theme Plan

FULL-TIME
Part 1
  1. Seminar

Modality
Location
On site
Specialized room

Topics

Hereditary factors, genetic factors.Genetic changes associated with endocrine diseases and methods of proof.Genetic diagnostic methods to endocrine pathologies.
  1. Seminar

Modality
Location
On site
Specialized room

Topics

Chromosomal and phenotypic syndromes with endocrine symptoms. Patient diagnosis and surveillance tactics
  1. Seminar

Modality
Location
On site
Specialized room

Topics

Metabolic screening tests for children endocrine pathology in the differential diagnosis
Total ECTS (Creditpoints):
6.00
Number of Residency Seminars:
3
Length (weeks):
4
Final Examination:
Residency exam (Theory and practice)

Bibliography

Required Reading

1.

Human Genetics and Genomics, Includes Wiley E-Text. 4th Edition, 2013, Wiley-Blackwell

Additional Reading

1.

Pediatric Endocrinology Reviews published by Y. S. Medical Media LTD

Other Information Sources

1.

EndoText

2.

BMJ Clinical Evidence

3.

Cohraine Library

4.

DynaMed

5.

MD Consult

6.

PubMed

7.

Science Direct