• 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 2020
    See Future Offerings

All activities that form part of this course will be delivered remotely in Sem 2 2020.

This course will extend 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 and gene environment interactions.

We will cover topics including:

• Complex trait genetics in Non-Mendelian inherited diseases, including pulmonary disease, vision disorders,

diabetes and cardiovascular disease.

• Gene-environment interactions

• Neurogenetics

• Impact of disease on genome evolution

• Genetic approaches to treating disease

• Genome editing technologies, including CRISPR-Cas9.

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:

  1. Explain and evaluate how genetic mutations cause disease and variable phenotypes in humans.
  2. Describe the genetic basis of specific diseases, how genetics assists in understanding pathophysiology and treatment options, and differentiate the current knowledge gaps.
  3. Explain the concept and evidential basis of selective pressure, and illustrate how selection affects disease gene frequency and inheritance.
  4. Review and critically evaluate web-based and literature-based resources in the field of human disease genetics and pathophysiology.
  5. Understand and apply theories in the bioinformatic study of genes and disease-causing mutations.

Indicative Assessment

  1. Significant research report (2000 word) on the current state of knowledge and recent advances in an area of human molecular genetics of specific interest to the student (14) [LO 1,2,4]
  2. 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%) (30) [LO 2,3,4]
  3. One mid-term and one final examination to assess students’ understanding (28% each) (56) [LO 1,2,3,5]

In response to COVID-19: Please note that Semester 2 Class Summary information (available under the classes tab) is as up to date as possible. Changes to Class Summaries not captured by this publication will be available to enrolled students via Wattle. 

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.


The expected workload will consist of approximately 130 hours throughout the semester including:

  • Face-to face component consisting of three lectures per week and one tutorial per week for most weeks ~ 45 contact hours in semester.
  • Approximately 85 hours of self-study which will include preparation for lectures, presentations and other assessment tasks.

Inherent Requirements

Not yet determined

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
2020 $4830
International fee paying students
Year Fee
2020 $6420
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
8702 27 Jul 2020 03 Aug 2020 31 Aug 2020 30 Oct 2020 In Person View

Responsible Officer: Registrar, Student Administration / Page Contact: Website Administrator / Frequently Asked Questions