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.

Unit details

Study level:
Credit points:
Unit code:


RBM2540 - Pathophysiology 2

RBM2560 - Medical Biochemistry

RBM2133 - Cell and Molecular Biology

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;  
  5. Discuss the ethical implications of genetic screening and counselling in relation to each disease.  


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.

VU takes care to ensure the accuracy of this unit information, but reserves the right to change or withdraw courses offered at any time. Please check that unit information is current with the Student Contact Centre.