| Course title | Medical Genetics |
|---|---|
| Course code | LGE/VA041 |
| 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 | English |
| Status of course | Compulsory |
| Form of instruction | Face-to-face |
| Work placements | This is not an internship |
| Recommended optional programme components | None |
| Lecturer(s) |
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| Course content |
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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, genetic databases, gene therapy.
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| Learning activities and teaching methods |
| Lecture, Monologic Lecture(Interpretation, Training), Dialogic Lecture (Discussion, Dialog, Brainstorming), Observation, Training in job and motor Skils |
| Learning outcomes |
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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.
Following the course the student should be able to explain genetically determined illnesses and interpret results of chromosomal and DNA analysis, he/she should be able to estimate genetic risks of recurrence of an anomaly or a disease in relatives, be able to understand basic findings in prenatal diagnosis and evaluate possible risks of teratogenic factors in a development of a fetus. The ability to use gained knowledge in the proces of clinical genetic diagnosis or research. |
| Prerequisites |
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Basic knowledge of human biology, genetics and embryology.
IN0/VAA11 ----- or ----- IN0/VAA21 and MIK/VAA12 ----- or ----- MIK/VAB31 and FAR/VAA32 ----- or ----- FAR/VAB11 and IN2/VAA32 ----- or ----- IN2/VAB22 ----- or ----- IN2/VAB32 and PAT/VAA32 ----- or ----- PAT/VAB11 and PFY/VAA31 ----- or ----- PFY/VAB11 and KIM/VAB12 and CJA/VAB12 ----- or ----- CJA/VAB41 and CH0/VAB11 ----- or ----- CH0/VAB31 |
| Assessment methods and criteria |
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Mark
Active participation in seminars and lectures and presentations on the assigned topic. |
| Recommended literature |
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| Study plans that include the course |
| Faculty | Study plan (Version) | Category of Branch/Specialization | Recommended semester | |
|---|---|---|---|---|
| Faculty: Faculty of Medicine and Dentistry | Study plan (Version): General Medicine (2025) | Category: Medical sciences | 4 | Recommended year of study:4, Recommended semester: - |