SubjectsSubjects(version: 837)
Course, academic year 2014/2015
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Clinical Genetics - CVSE5P0050
Title in English: Klinická genetika
Guaranteed by: Department of General Biology and Genetics (12-GEN)
Faculty: Third Faculty of Medicine
Actual: from 2013 to 2014
Semester: both
Points: 1
E-Credits: 1
Examination process:
Hours per week, examination: 0/20 C [hours/semester]
Extent per academic year: 10 [hours]
Capacity: winter:unknown / unknown (unknown)
summer:unknown / unknown (unknown)
Min. number of students: unlimited
State of the course: taught
Language: Czech, English
Teaching methods: full-time
Note: you can enroll for the course in winter and in summer semester
Guarantor: prof. MUDr. Marie Černá, DrSc.
Classification: Medicine > Clinical Disciplines
Annotation -
Last update: prof. MUDr. Marie Černá, DrSc. (27.09.2017)
The education of medical genetics in the 5th year consists of eight seminars and one attendance on the Department of Medical Genetics. Teaching is based on the revision of knowledge from the 1st year of the study and on the introduction of details of particular topics. The seminars are focused on clinical cases and casuistics. The visit on the Department of Medical Genetics demonstrates the work in the genetic counselling centre, conjunction of genetics with other medical specialities, work in cytogenetic and molecular genetic laboratories. The questions from medical genetics are the part of the state examination from pediatrics.
Aim of the course -
Last update: prof. MUDr. Marie Černá, DrSc. (27.09.2017)

The lessons from medical genetics - course "Clinical Genetics" in the 5th year of the study run as a part of the Pediatry module. They are consequential with the genetic lessons in the 1st year within the Cellular basic of Medicine modul. The aim is bring new informations about diagnostic possibilities of hereditary diseases, provide students with the necessary knowledge in the field of medical genetics and due to give them the ability to indicate a genetic consultation and methods no matter their specialities.

Literature -
Last update: prof. MUDr. Marie Černá, DrSc. (27.09.2017)

•                Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard: Thompson and Thompson: Genetics in Medicine. Eighth edition, Elsevier 2016, ISBN 978-1-4377-0696-3

•                Lynn B. Jorde, John C. Carey, Michael J. Bamshad: Medical Genetics. Fifth edition, Elsevier 2016, ISBN 978-0-323-18835-7

•                Dorian J. Pritchard, Bruce R. Korf: Medical Genetics at a Glance. Second edition, Blackwell Publishing 2008

Teaching methods -
Last update: prof. MUDr. Marie Černá, DrSc. (27.09.2017)

Seminars, seminar works, a visit of the Department of Medical Genetics.

Requirements to the exam -
Last update: prof. MUDr. Marie Černá, DrSc. (27.09.2017)

Requirements for credit:

- fulfilment of eight credits (8 seminaries or 8 seminar works, and all can be arbitrarily combined)

- attendance of the Dept. of Medical Genetics in Thomayer Hospital (if the week before the practical training will not stay logged on one, it will not take place)

- passing the test at minimum 60 points (terms of tests are provided in the schedule), consultation and looking for texts take place in one week after the test.

Syllabus -
Last update: prof. MUDr. Marie Černá, DrSc. (03.09.2018)

Genetic counseling, casuistics

Primary and secondary prevention of genetic diseases, teratogens

Congenital abnormalities

Inborn chromosomal abnormalities

Microdeletion syndromes

Cytogenetics of tumors

Genetic examinations in practice

Genetics in clinical practice


Internship in clinical conditions

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