Clinical Genetics and Cellular Basis of Disease

This capstone unit builds on foundation knowledge and skills relating to cellular, molecular and biochemical interactions in the body and how they contribute to the pathogenesis of disease. It includes a more specialised study of the human genome and the ways in which genes are expressed and regulated. Patterns and consequences of genetic inheritance – both Mendelian and non-Mendelian are also explored. Most importantly for biomedicine, the unit investigates the various ways in which genetic diseases manifest themselves: their symptoms, pathogenesis, diagnosis and treatment, if any. Relevant screening of populations, genetic counselling and ethical considerations will be discussed.

Learning Outcomes

On successful completion of this unit, students will be able to:

1. Conceptualise the structure of the human genome, the functional significance of its various components and how gene expression is regulated;
2. Scrutinise the various types of inheritance patterns, including both Mendelian and non-Mendelian inheritance;
3. Elucidate genetic disease-causing mechanisms such as various types of DNA mutations, chromosomal abnormalities and epigenetic mechanisms;
4. Analyse the genetic basis, symptoms, pathogenesis, and principles of diagnosis and treatment options of commonly encountered genetic diseases as well as diseases that have genetic risk factors; and
5. Discuss the ethical implications of genetic screening and counselling in relation to diseases.