This unit introduces students to concepts and methods in human genetics with a major focus on disease. Advances in human genetics in the last decade have had a major impact on medical science from early diagnosis through to targeted therapies. Fundamental genetic principles will be explored including genome structure, gene regulation, genetic heterogeneity and inheritance. Students will apply their knowledge to the understanding of the molecular mechanisms, diagnosis and screening of both monogenetic and multifactorial disorders.

Unit details

Study level:
Credit points:
Unit code:


HBM1002 - Biological Systems

RBF1320 - Biology 2

HBM1002 (biomed students) OR RBF1320 (science students)

Learning Outcomes

On successful completion of this unit, students will be able to:
  1. Analyse the structure of the human genome and determine the function of its various components;  
  2. Interpret the molecular processes involved in gene expression, including epigenetics;  
  3. Articulate the nature of mutations and how genetic instability contributes to mutation;  
  4. Evaluate molecular defects involved in disease states at the chromosomal or individual gene level;  
  5. Assess methods used to detect mutations and diagnose genetic diseases.  


Assessment type Description Grade
Exercise Group worksheets (250 words) 5%
Laboratory Work Laboratory work and reports (1500 words) 30%
Test Two (2) Tests (10% each, 30 minutes per test) 20%
Assignment Case studies (1500 words) 45%

Required reading

Human Genetics Concepts and Applications 12th ed.
Lewis, R., (2017)
McGraw-Hill. NY, USA.

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