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Lecturer(s)
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Kaščáková Barbora, Mgr. Ph.D.
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Rozbeský Daniel, Mgr. Ph.D.
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Macůrek Libor, MUDr. Ph.D.
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Huranová Martina, Mgr. Ph.D.
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Vyklický Ladislav, prof. MUDr. DrSc.
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Macůrková Marie, Mgr. Ph.D.
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Sedláček Radislav, XXX Dr. rer. nat.
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Mráček Tomáš, RNDr. Ph.D.
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Fencková Michaela, Mgr. Ph.D.
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Janoštiak Radislav, RNDr. Ph.D.
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Ellederová Zdeňka, Ing. Ph.D.
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Course content
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Content of lectures: Introduction into research of disease mechanisms Protein structure: crystallography and structural modelling of disease variants CryoEM and Protein-protein interactions NMDA Receptors in Health and Disease Drosophila as a model for human disease C.elegans as a model for development and cell signalling in health and disease Primary mitochondrial disorders - from diagnostics to molecular mechanisms (biochemist's perspective) Primary Cilia in Health and Disease DNA repair and its impact on human health Large Animal Models as Translational Platforms for Cell and Gene Therapy Patient-derived 3D organoids and organ-on-chip technology in molecular oncology Czech Centre for Phenogenomics and genetically modified mouse models of disease Content of tutorials/seminar: For each seminar, students will prepare a presentation of a scientific article that covers one of the lectures´ topics and that will be discussed in the class. Preparation for seminars: each student will read the article that will be presented and prepare for the discussion. He/she can be encouraged by the lecturer to ask questions.
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Learning activities and teaching methods
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- Semestral paper
- 20 hours per semester
- Preparation for classes
- 25 hours per semester
- Preparation for exam
- 30 hours per semester
- Class attendance
- 67 hours per semester
- Preparation for credit
- 8 hours per semester
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Learning outcomes
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This course acquaints students with state-of-the-art experimental genetic and computational approaches in translational research of human disease. The approaches will be presented by experts in the field who will include examples of their current research. Each lecture will be coupled with a seminar where the students will process up-todate literature and discuss it with the rest of the class. Finally, the theoretical knowledge will be complemented with an excursion to the laboratories of the leading research institutes of the Czech Academy of Sciences (IMG, BIOCEV, IPHYS). This concept will broaden the students' perspectives for choosing research interest for possible further exploration during their Master studies, and reinforce their critical thinking and problem-solving.
This course develops competencies that combine understanding of disease mechanisms with familiarity with modern experimental and translational research approaches. Compared to Fundamental Human Genetics, it is more research-oriented and emphasizes critical interpretation of current scientific literature, model systems, and advanced technologies used in biomedical research. Students completing the course should acquire the following competencies: Understanding of molecular and cellular mechanisms underlying human disease, including genetic, structural, developmental, metabolic and signaling defects. Familiarity with modern experimental approaches used in translational biomedical research, including structural biology, CryoEM, disease modelling, organoid technologies, gene and cell therapy approaches, and phenogenomics. Knowledge of how different model systems contribute to understanding disease mechanisms, including Drosophila, C. elegans, mouse models, large animal models, patient-derived organoids and organ-on-chip systems. Ability to explain how alterations in protein structure, protein-protein interactions, DNA repair, mitochondrial function, ciliary biology or neuronal signaling contribute to disease pathology. Basic orientation in computational and structural approaches used for interpretation of disease-associated genetic variants. Understanding of the translational pipeline from basic molecular mechanisms to diagnostics, disease modelling and therapeutic development. Ability to critically read, analyze and discuss current scientific literature in molecular medicine and translational research. Skills in scientific presentation and discussion through regular presentation of research articles and active participation in seminars. Development of critical thinking, scientific reasoning and problem-solving abilities in the context of human disease research. Broadened awareness of contemporary biomedical research environments and technologies through interaction with active researchers and excursions to leading research institutes. Ability to connect theoretical molecular knowledge with experimental design and real-world biomedical applications. This course also implicitly develops research-oriented competencies such as: evaluation of experimental approaches and their limitations, interdisciplinary thinking, interpretation of complex datasets, and understanding how fundamental discoveries are translated into clinical and therapeutic applications.
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Prerequisites
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Genetics, Molecular Biology (KBM/250 or equivalent course from former university).
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Assessment methods and criteria
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unspecified
Requirements on student: credit: attendance at practicals and seminars (max. 3 absences), presentation of an assigned scientific article 1x semester evaluated by the guarantor as of sufficient quality exam: written (60 %)
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Recommended literature
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Lecturers will provide students with scientific articles that the students will present at the seminars.
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William B. Coleman and Gregory J. Tsongalis: Molecular pathology, 2nd edition, 2018.
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