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

Location:
Study level:
Undergraduate
Credit points:
12
Unit code:
HBM3205

Prerequisites

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

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%

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