| Course title | Fundamental Human Genetics |
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| Course code | KMB/932 |
| Organizational form of instruction | Lecture + Seminary |
| Level of course | Master |
| Year of study | not specified |
| Frequency of the course | n each academic year, in the summer semester. |
| Semester | Summer |
| Number of ECTS credits | 4 |
| Language of instruction | English |
| Status of course | Compulsory-optional |
| 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) |
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| Course content |
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Content of lectures: The course is divided in the following topics that will be covered in 13 lectures. Phylogenetic tree of life and human evolution from genetic perspective Molecular basis of genetics (DNA structure and function, genetic code, replication, transcription and translation, posttranscriptional and post-translational processing, protein structure) DNA variability and analysis Mutations and DNA repair mechanisms, transposons, trinucleotide repeats and their importance in human evolution and medicine Non-coding DNA and regulation of transcription (introns, RNA editing, DNA-protein interaction, enhancers) Cell cycle, cell death and cell communication in health and disease Mendelian inheritance, phenotype vs genotype and its use in genetic counselling (allele segregation, monogenic inheritance, gene linkage and association analysis, quantitative genetic traits and distribution of alleles in population, twin studies) Chromosome structure (functional domains, chromatin architecture) and its analysis (karyotype, labelling, visualization, incl. G-banding and FISH), chromosomal aberrations and translocations RNA (mRNA, rRNA, tRNA, non-coding RNAs, enzymatic roles of RNA, pathology of RNA-associated mutations, therapeutic prospectives of RNAs, eg. RNAi, antisense oligos etc.) Epigenetics (DNA methylation, histone modifications and chromatin remodelling), its implication for cell renewal and proliferation = stem cells and human disease (chromatinopathies) Human reproduction, imprinting and embryonic development Human mitochondrial genome Genomics, human genome sequence, architecture, and dynamics Content of tutorials/seminar: The lecture series will be closed with a 4-hour seminar where the students will present an E-poster on selected topic of interest from human genetics. The presentation will be evaluated by their peers.
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| Learning activities and teaching methods |
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| Learning outcomes |
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This course deepens the knowledge from genetics, molecular and cell biology in the context of human genetics. It provides information about structure and variation of human genome and its implication for evolution and disease pathology. It also provides an overview of molecular and genetic approaches used for studying of DNA variation, mutations and therapy.
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| Prerequisites |
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Prerequisites, preconditions: Genetics, Molecular Biology (KBM/250 or equivalent course from former university).
KMB/250 and KMB/240 |
| Assessment methods and criteria |
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unspecified
credit: attendance at final seminar, presentation of E-poster at the final seminar exam - written (min. 70 %) |
| Recommended literature |
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| Study plans that include the course |
| Faculty | Study plan (Version) | Category of Branch/Specialization | Recommended semester |
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