Human Genetics 1400-225GENC

Lecture
1. History and role of classical investigations - family trees. 2. Genetic diseases - classification and examples. 3. Human evolution. 4. Molecular basis of human genetic diseases. 5. Neurodegenerative diseases -Alzheimer's disease, diseases caused by dynamic mutations, diseases caused by prions. 6. Multifactorial diseases - genes and the environment - obesity, diabetes, behavioural genetics. 7. Cancer and aging. 8. Genomic imprinting. 9. Knockout and transgenic mice - models for human diseases. 10. Mitochondrial diseases. 11. The human genome and other genomes. 12. Pharmacogenomics. 13. Diagnostics. Bioethics. 14. Gene therapy.
Practice
1. Basic rules of inheritance in human genetics. 2. Molecular basis of human diseases. 3. Analysis of natural variability of human populations. Practical applications. 4. Methods of detecting mutations in genetic diseases. 5. Molecular basis of mitochondrial diseases. 6. Calculation of disease risk (1) 7. Calculation of disease risk (2). 8. Polygenic inheritance - twin studies, heritability, behavioural genetics. 9. Gene mapping (1). 10. Gene mapping (2) - computer-based methods. 11. Model organisms and human evolution. 12. Evaluation of the results of diagnosis. Ethical problems in human genetics. 13-14. Presentations by students.