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

Clinical Genetics

Main Study Course Information

Course Code
RIM_024
Branch of Science
Clinical medicine
ECTS
5.00
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 improvement of theoretical knowledge and practical skills in clinical genetics in accordance with the requirements of the immunology specialty regulation.

Learning Outcomes

Knowledge

1.As a result of the study course, the student acquires knowledge about the most important genetic testing methods, is able to name and describe the role of genetic testing in the diagnosis of immunopathologies, formulate indications for genetic testing.

Skills

1.The student is able to identify patients with immunopathology who require genetic testing and is able to analyse the results of genetic testing and apply them to the diagnosis of immune diseases.

Competences

1.The student is competent to refer patients with various immunopathologies for genetic testing, to justify the need for such testing and is competent to apply the results of genetic testing to the diagnosis of immune diseases.

Assessment

Individual work

Title
% from total grade
Grade
1.

Individual work

-
-
Independent preparation of papers on seminar topics. Independent study of literature.

Examination

Title
% from total grade
Grade
1.

Examination

-
-
Successful presentation of papers at seminars. An open discussion on topics of clinical genetics.

Study Course Theme Plan

FULL-TIME
Part 1
  1. Seminar

Modality
Location
-
-

Topics

Genetic testing methods
  1. Seminar

Modality
Location
-
-

Topics

Genetic testing of patients with primary immunodeficiencies
  1. Seminar

Modality
Location
-
-

Topics

Genetic testing in case of rare diseases
Total ECTS (Creditpoints):
5.00
Number of Residency Seminars:
3
Length (weeks):
4
Final Examination:
Residency exam (Theory and practice)

Bibliography

Required Reading

1.

K.L. Jones, M.C. Jones, M. Del Campo. Smith’s recognizable patterns of human malformation: expert consult – online and print. 8th Ed. Elsevier, 2021

2.

H.V. Firth, J.A. Hurst. Oxford Desk Reference: Clinical Genetics and Genomics (Oxford Desk Reference Series). 2nd Ed. Oxford University Press, 2017