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.
Prerequisites
RBM2540 - Pathophysiology 2
RBM2560 - Medical Biochemistry
RBM2133 - Cell and Molecular Biology
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Learning Outcomes
| 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; | ||
| 5. | Discuss the ethical implications of genetic screening and counselling in relation to each disease. |
Assessment
| Assessment type | Description | Grade |
|---|---|---|
| Case Study | Case study and short answer activities | 15% |
| Assignment | Infographic (scientific) | 25% |
| ICT (Wiki, Web sites) | Podcast - information resource for patient population | 30% |
| Case Study | Genetic counselling session | 30% |
Where to next?
As part of a course
This unit is studied as part of the following courses. Refer to the course page for information on how to apply for the course.
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