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 examined. Most importantly for biomedicine, the unit explore 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. Case studies will be utilised to illustrate clinical aspects of genetic disease.

Unit details

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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. Describe the structure of the human genome, the functional significance of its various components and how gene expression is regulated;  
  2. Distinguish between the various types of inheritance patterns and demonstrate an understanding of 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. Identify and elaborate 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
Test Tests (2 x 10%, 20 minutes each) 20%
Assignment Oral Presentation (10 minutes, 5 minutes of questions) 30%
Examination Final Examination (2 hours) 50%

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