Course: Medical Genetics

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Course title Medical Genetics
Course code LGE/VC012
Organizational form of instruction Exercise + Seminar
Level of course Master
Year of study 4
Semester Winter and summer
Number of ECTS credits 2
Language of instruction Czech
Status of course Compulsory
Form of instruction Face-to-face
Work placements This is not an internship
Recommended optional programme components None
Course availability The course is available to visiting students
Lecturer(s)
  • Vrtěl Radek, doc. RNDr. Ph.D.
  • Štefeková Andrea, Mgr.
  • Strašil Radek, MUDr.
  • Srovnalová Alžběta, Mgr. Ph.D.
  • Curtisová Václava, MUDr.
  • Friedecký David, prof. RNDr. Ph.D.
  • Vrtělová Júlia, MUDr.
  • Mracká Enkhjargalan, MUDr.
  • Procházka Martin, prof. MUDr. Ph.D.
  • Janíková Mária, Mgr. Ph.D.
  • Kolaříková Kristýna, Mgr. Ph.D.
  • Srovnal Josef, doc. MUDr. Ph.D.
  • Vrtěl Petr, Mgr. Ph.D.
  • Punová Lucia, MUDr.
  • Volejníková Jana, doc. MUDr. Ph.D.
  • Osičková Lucie, MUDr.
  • Sugraňes Isaac, MUDr.
  • Šišperová Renáta, MUDr.
Course content
The basis of heredity, DNA, chromosomes and their aberrations, knowledge of the different types of heredity, examples of monogenic diseases, polygenic inheritance, risk factors (teratogens) in pregnancy, epigenetics, the basics of molecular genetics, diagnosis and application of molecular genetics methods for everyday practice, basic methods of cytogenetics, preimplantation genetic diagnosis, importance of prenatal diagnosis and screening programs in pregnancy, non-invasive prenatal testing, basics of syndromology, oncogenetics, neurogenetics, cardiogenetics, genetics of hematological diseases, genetics in internal medicine, advance in medical genetics, genetic databases, gene therapy.

Learning activities and teaching methods
Lecture, Monologic Lecture(Interpretation, Training), Dialogic Lecture (Discussion, Dialog, Brainstorming), Observation, Training in job and motor Skils
Learning outcomes
The main focus of this course is to introduce students to the basic principles of medical genetics and the broad application of genetics in modern medicine. Primarily, medical genetics is still a diagnostic and preventive field, but thanks to advances in molecular medicine methods, it is increasingly used as a necessary step in personalized patient treatment. In recent years, there have been advances in the use of gene therapy in the treatment of some previously infaustic, genetically based diseases. Upon completion of this tutorial, the student will have a basic understanding of: genetically based diseases, principles of heredity, genetic counseling, specifics of informed consent, genetically based diseases, DNA analysis and cytogenetics.
After completing this educational block, the student will acquire basic knowledge about: genetically determined diseases, principles of heredity, genetic consultation, specifics of informed consent, genetically determined diseases, DNA analysis and cytogenetics.
Prerequisites
Basic knowledge of human biology, genetic and embryology.
CH0/VCA11
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CH0/VCB31 and MIK/VCA12
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MIK/VCB31 and PVL/VCA13
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PVL/VCB23 and FAR/VCA32
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FAR/VCB11 and IN2/VCB22 and CJA/VCB21 and PSY/VCA13
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PSY/VCA23 and KIM/VCB12 and PAT/VCA32
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PAT/VCB11 and PFY/VCB12 and PVL/VCB32

Assessment methods and criteria
Mark

To pass seminars and practical training, completed seminar project.
Recommended literature
  • Dorian, J. P., Bruce, R. K. (2007). Základy lékařské genetiky. Praha: Galén.
  • Nussbaum, R. L., Mcinnes, R. R., Willard, H. F. (2004). Klinická genetika. Praha: Triton.
  • Otová B. a kolektiv. (2017). Lékařská biologie a genetika (I. díl). Nakladatelství Karolinum Praha.
  • Otová B. a kolektiv. (2017). Lékařská biologie a genetika (II. díl). Nakladatelství Karolinum Praha.
  • Procházka, M., Vodička, R., Vrtěl, R. (2018). Základy lékařské genetiky. Univerzita Palackého v Olomouci.
  • Snustad, D. P., Simmons, M. J. (2017). Genetika. Brno: Munipress.


Study plans that include the course
Faculty Study plan (Version) Category of Branch/Specialization Recommended year of study Recommended semester
Faculty: Faculty of Medicine and Dentistry Study plan (Version): - (2021) Category: Medical sciences 4 Recommended year of study:4, Recommended semester: -