Program of Study
:
General Medicine
Course
:
Medical Genetics
Abbreviation
:
LGE/VA011
Schedule
:
25 hours of seminars
5 hours of exercises
Course Distribution :
5th year
Number of Credits
:
3
Course Form
:
Seminars, exercises
Seminars :
Teachers :
doc. MUDr. Martin Procházka, Ph.D.
doc. RNDr. Radek Vrtěl, Ph.D.
MUDr. Václava Curtisová, MSC.
doc. Mgr. Radek Vodička, Ph.D.
RNDr. Kateřina Adamová, Ph.D.
RNDr. Pavlína Čapková, Ph.D.
MUDr. Jana Petřková, Ph.D.
MUDr. Júlia Štellmachová
MUDr. Lucia Tvrdá
MUDr. Tereza Veberová
doc. MUDr. Mgr. Milan Raška, Ph.D.
RNDr. D. Friedecký, Ph.D.
Mgr. Magda Pešková
Mgr. Kateřina Smékalová
MUDr. Pavel Turčan
MUDr. Věra Hůrková
Study :
Block
Block Date :
12. 10. – 16. 10. 2015
02. 05. – 06. 05. 2016
09. 05. – 13. 05. 2016
Subject
No. of
Less.
Teacher
1
2
3
4
5
The role of genetics in medicine.
Chromosomes, human genome.
Ethical aspects of medical genetics.
Imunogenetics.
Inborn errors of metabolism – examples.
Prenatal diagnosis of genetic disease.
Preimplantation diagnosis from the
perspective embryologist.
Type of chromosomal disorders
Common chromosomal disorders
Teratogenic agens in gravidity
Pharmacogenetics
3
Procházka
1
2
2
1
1
Curtisová
Raška
Friedecký
Procházka
Pešková
2
Oncogenetics
2
Adamová/
Čapková
Procházka/
Štellmachová
Procházka/
Štellmachová
Vrtěl/Veberová
Disorders of the gonads and the reproductive
ducts.
Methods of DNA analysis. Clinical
applications.
Genetics in internal medicine
The major types of genetic disease. Single-gene
disorders. The common and clinically most
important single gene disorders.
Multifactorial inheritance-practical examples
Etiology of the developmental defects.
Congenital abnormalities: malformations,
deformations, disruptions.
1
1
1
2
1
2
Turčan
Vrtěl
Vrtěl/ Vodička
Petřková
Curtisová/Hůrková/
Tvrdá
3
Curtisová/Hůrková/
Tvrdá
Exercises :
Leading Teacher :
doc. MUDr. Martin Procházka, Ph.D.
Study :
Block
Block Date :
12. 10. – 16. 10. 2015
02. 05. – 06. 05. 2016
09. 05. – 13. 05. 2016
Block Day
1
2
3
4
5
Subject
No. of
Less.
Tour of the department MG
Demonstration of cytogenetic investigations
Demonstration of the DNA methods
Genetic aspects and counseling in prenatal
diagnosis
Genetic counseling, diagnostic and examples from
practice
1
1
1
2
Completed by :
Examination
Requirements :
To pass seminars and practical training
Literature :
1. H.M.Kingston: ABC of Clinical Genetics
2. J.M.Connor, M.A.Ferguson-Smith: Essential Medical
Genetics, Blackwell Scintific Publications, 1991
3. Thompson and Thompson: Genetics in medicine.
W.B.Sauders Company, 2001