This module aims to provide an introduction to the field of human genetics from understanding the molecular basis of genetic disease, to the application of techniques for genome analysis in the clinical genetics laboratory. The inheritance of single gene diseases and more complex multifactorial disorders will be addressed. The types of abnormalities found in the human karyotype will be studied. The origins and types of defects observed, their effect at a molecular level and on the individuals and families affected will be considered. The impact of the human genome project, molecular diagnostic techniques and potential therapeutic options such as gene therapy will be considered.
Learning outcomes
At the end of this module students will be able to:
1. define the structure and organisation of the human genome and genes and explain modern methods used to study genome variation and expression;
2. explain the nature of single gene and complex genetic disease, including the mechanisms of disease and the inheritance patterns observed;
3. explain the mechanisms leading to abnormalities in the human karyotype, the resulting disorders and the molecular techniques used to study chromosomes;
4. valuate the different genetic screening tests, when they are applied and their application in genetic counselling;
5. demonstrate competence in information retrieval and data analysis and interpretation.
- Module Supervisor: Patrick Varga Weisz