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

Medical Genetics

Main Study Course Information

Course Code
RIT_048
Branch of Science
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 improvement of theoretical knowledge and practical skills in genetics and the investigation of genetic diseases.

Learning Outcomes

Knowledge

1.Demonstrates in-depth knowledge of genetics that meets the requirements of the major. Defines the pathogenesis, clinical manifestations, treatment principles of genetic diseases of the nervous system. Interprets the results of clinical analyzes and investigative methods in the recognition of genetic diseases.

Skills

1.Apply and analyze the results of available genetic investigation methods to perform the professional functions of a qualified specialist in the diagnosis, treatment and care of genetic diseases.

Competences

1.Formulates and critically analyzes genetic investigation data, adequately evaluates genetic testing data, substantiates the diagnosis, shows understanding and ethical responsibility for the result of professional activity.

Assessment

Individual work

Title
% from total grade
Grade
1.

Individual work

-
-
The resident independently familiarizes himself with the latest literature data, research results, constantly prepares presentations for theoretical seminars.

Examination

Title
% from total grade
Grade
1.

Examination

-
-
1) At the end of the study course, the teacher evaluates the practical skills and competencies in a 10-point system, recording it in the resident's book. 2) Theoretical knowledge is assessed in a 10-point system, the assessment being recorded in the resident's notebook.

Study Course Theme Plan

FULL-TIME
Part 1
  1. Seminar

Modality
Location
On site
Auditorium

Topics

Practical referrals for DNA diagnostics. Pharmacogenetics.
  1. Seminar

Modality
Location
On site
Auditorium

Topics

Mitochondrial pathology
  1. Seminar

Modality
Location
On site
Auditorium

Topics

Oncogenetics
  1. Seminar

Modality
Location
On site
Auditorium

Topics

Urea cycle disorders
Total ECTS (Creditpoints):
6.00
Number of Residency Seminars:
4
Length (weeks):
4
Final Examination:
Residency exam (Theory and practice)

Bibliography

Required Reading

1.

Medical Genetics: An Integrated Approach. Eds. G. Bradley Schaefer, and James N. Thompson, Jr. McGraw Hill, 2017

Additional Reading

1.

Precision Medicine: A Guide to Genomics in Clinical Practice. Eds. Jeanette J. McCarthy, and Bryce A. Mendelsohn. McGraw Hill, 2016