• Offered by John Curtin School of Medical Research
  • ANU College ANU Joint Colleges of Science
  • Classification Advanced
  • Course subject Biology
  • Areas of interest Medical Science, Cell and Molecular Biology, Genetics, Biomedical Science
  • Academic career PGRD
  • Course convener
    • AsPr Brendan McMorran
  • Mode of delivery In Person
  • Co-taught Course
  • Offered in Second Semester 2017
    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 

Note:  Graduate students attend joint classes with undergradutes but are assessed separately.

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. Interpret and critically analyse web-based and literature-based resources to develop and test hypotheses in the field of human genetics.
  2. Distinguish the complexities in the understanding of the genetic and physiological bases of human genetic diseases.
  3. Examine and interpret complex trait genetic mapping experiments.
  4. Understand and compare the theoretical and practical challenges in developing cures for genetic diseases.
  5. Predict the environmental factors that interact with genetic variants to cause disease.
  6. Differentiate the positive and negative impacts of genetic variants selected under environmental pressures.
  7. Explain the multi-dimensional structure of the genome and how this impacts on phenotypic expression and disease.

Indicative Assessment

Assessment will be based on:
  • Significant research report (4000 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

Incompatible with BIOL3205

You will need to contact the John Curtin School of Medical Research to request a permission code to enrol in this course.

Prescribed Texts

Human Molecular genetics 4th Edition Strachan and Read

Assumed Knowledge

To enrol in this course you must have completed BIOL6204.
Incompatible with BIOL3205


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
2017 $4092
International fee paying students
Year Fee
2017 $5454
Note: Please note that fee information is for current year only.

Offerings, Dates and Class Summary Links

ANU utilises MyTimetable to enable students to view the timetable for their enrolled courses, browse, then self-allocate to small teaching activities / tutorials so they can better plan their time. Find out more on the Timetable webpage.

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
9593 24 Jul 2017 31 Jul 2017 31 Aug 2017 27 Oct 2017 In Person N/A

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