• Offered by John Curtin School of Medical Research
  • ANU College ANU Joint Colleges of Science
  • Course subject Biology
  • Areas of interest Medical Science, Cell and Molecular Biology, Genetics, Biomedical Science
  • Academic career UGRD
  • Course convener
    • AsPr Brendan McMorran
  • Mode of delivery In Person
  • Co-taught Course
  • Offered in Second Semester 2018
    See Future Offerings

This course will extend on the Genetics of Human Disease I course, focussing on more advanced topics of human genetics and disease. We will examine the genetics of non-Mendelian disorders, including those exhibiting sex-linked, mitochondrial, transgenerational and complex modes of inheritance. These will be studied at both conceptual and disease-specific levels, with additional focus on the use of genetics to elucidate disease mechanism and develop therapies. We will also present the latest advances and representative examples pertaining to other advanced genetic concepts such as genome evolution, gene-environment interactions, and higher order genome organisation and regulation. We will cover topics including:

Included topics:

  • Non-Mendelian inherited diseases.
  • Complex trait genetics 
  • Gene-environment interactions 
  • Neurogenetics 
  • Impact of disease on genome evolution 
  • Genetic approaches to treating disease
  • Higher order genome structure and gene expression 

Learning Outcomes

Upon successful completion, students will have the knowledge and skills to:

On satisfying the requirements of this course, students will have the knowledge and skills to:
  1. Proficiently locate and use web-based and literature-based resources to investigate hypotheses in the field of human genetics.
  2. Explain how genetic mutations cause disease in humans and relate this to the underlying physiological basis.
  3. Demonstrate how the genetic basis of complex genetic traits is determined.
  4. Describe how current and experimental-based therapies act to control and cure genetic diseases.
  5. Describe how interactions between environmental factors and genes influence disease phenotypes.
  6. Explain how selective pressure has affected the evolution of the human genome.  
  7. Describe how phenotypic expression and disease can be determined by cis- and trans-acting DNA elements.

Indicative Assessment

Assessment will examine proficiency in individual research, understanding of the theory and practical work.
  • Research essay (3000 word) on the current state of knowledge and recent advances in an area of human molecular genetics of specific interest to the student (30%) (LO 4-7 depending on topic)
  • Take-home assignments that extend on lecturer-lead tutorials. Comprise of short answers relating to interpretation of prescribed research articles, or specific topics and questions set by the lecturer. (3 assignments, 10% each; total 30%) (LO 1-3)
  • Final examination to assess students’ understanding (40%) (LO 2-7)

The ANU uses Turnitin to enhance student citation and referencing techniques, and to assess assignment submissions as a component of the University's approach to managing Academic Integrity. While the use of Turnitin is not mandatory, the ANU highly recommends Turnitin is used by both teaching staff and students. For additional information regarding Turnitin please visit the ANU Online website.


Three lectures per week and computer practicals; total workload ~ 45 contact hours in semester. In addition, the course requires substantial number of self-assigned (i.e. non-contact) hours.

Requisite and Incompatibility

To enrol in this course you must have completed BIOL2161 and BIOL3204. Incompatible with BIOL6205.

Prescribed Texts

Human Molecular genetics 4th Edition Strachan and Read

Assumed Knowledge

BIOL2151 is strongly recommended.




Tuition fees are for the academic year indicated at the top of the page.  

If you are a domestic graduate coursework or international student you will be required to pay tuition fees. Tuition fees are indexed annually. Further information for domestic and international students about tuition and other fees can be found at Fees.

Student Contribution Band:
Unit value:
6 units

If you are an undergraduate student and have been offered a Commonwealth supported place, your fees are set by the Australian Government for each course. At ANU 1 EFTSL is 48 units (normally 8 x 6-unit courses). You can find your student contribution amount for each course at Fees.  Where there is a unit range displayed for this course, not all unit options below may be available.

6.00 0.12500
Domestic fee paying students
Year Fee
2018 $4080
International fee paying students
Year Fee
2018 $5760
Note: Please note that fee information is for current year only.

Offerings, Dates and Class Summary Links

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The list of offerings for future years is indicative only.
Class summaries, if available, can be accessed by clicking on the View link for the relevant class number.

Second Semester

Class number Class start date Last day to enrol Census date Class end date Mode Of Delivery Class Summary
9513 23 Jul 2018 30 Jul 2018 31 Aug 2018 26 Oct 2018 In Person N/A

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