• 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, Genetics, Biomedical Science
  • Academic career PGRD
  • Course convener
    • AsPr Brendan McMorran
    • Dr Julia Ellyard
  • Mode of delivery In Person
  • Co-taught Course
  • Offered in First Semester 2022
    See Future Offerings

See https://www.anu.edu.au/covid-19-advice. In Sem 1 2022, this course is delivered on campus with adjustments for remote participants.

This course provides an introduction to new discoveries in areas of importance to our understanding of human genetics and disease. Fuelled by sequencing of the human genome and new methods of investigating biological function, research into the genetic and molecular causes of human disease is advancing at a rapid pace. We will examine not only the genetic abnormalities underlying human disease and disorders but also the breakdown in physiological processes and molecular biology caused by the genetic lesion. We will look at how this knowledge can lead to new disease treatments and to personalised precision medicine. We will also explore some of the societal issues raised by new technologies and treatments. We will cover topics including:

• Fundamental concepts in human genetics

• Fundamental concepts in heredity and genomic medicine

• Genetic variation in individuals

• Genetic variation in populations

• Molecular basis of genetic disease


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

Learning Outcomes

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

  1. Explain fundamental concepts in heredity, human genetics and genomic medicine using specific disease examples and appreciate the duties, responsibilities and challenges facing the professionals who perform these analyses
  2. Explain how variation in the coding and non-coding components of the human genome that can result in genetic disease
  3. Discuss how the latest advances in genomic technologies and how they can be applied to disease gene identification and precision medicine
  4. Predict how environmental factors can contribute to genetic disease
  5. Explain and evaluate the importance of model organisms and systems to our investigation of basic principles in human genetics
  6. Explain and evaluate the societal issues raised by new genetic technologies and treatments
  7. Identify and navigate relevant literature, specialised web sites and databases used for research into human genetics and use these sources to develop and test hypotheses in the field of human genetics
  8. Evaluate, synthesise and critically review literature describing recent research into human genetics

Indicative Assessment

  1. Take-home assignments of computer practicals to apply knowledge to experimental and theoretical problems (3 assignments, 20% each) (60) [LO 1,2,3,4,5,6,7,8]
  2. Final examination to assess students’ understanding of human genetics and application of their knowledge (40) [LO 1,2,3,4,5,6]

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 which may consist of 2-3 lectures per week (36 hours per semester) and up to 18 hours of laboratory and computer sessions per semester.r
  • Approximately 76 hours of self-study which will include preparation for lectures, presentations and other assessment tasks.

Inherent Requirements

To be determined

Requisite and Incompatibility

You are not able to enrol in this course if you have completed BIOL2152 or BIOL3204.

Prescribed Texts

Human Molecular genetics 4th Edition Strachan and Read

Assumed Knowledge

BIOL6006 is strongly recommended.


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

Commonwealth Support (CSP) Students
If you 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). More information about your student contribution amount for each course at Fees

Student Contribution Band:
Unit value:
6 units

If you are a domestic graduate coursework student with a Domestic Tuition Fee (DTF) place or international student you will be required to pay course tuition fees (see below). Course tuition fees are indexed annually. Further information for domestic and international students about tuition and other fees can be found 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
2022 $4980
International fee paying students
Year Fee
2022 $6660
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.

First Semester

Class number Class start date Last day to enrol Census date Class end date Mode Of Delivery Class Summary
3154 21 Feb 2022 28 Feb 2022 31 Mar 2022 27 May 2022 In Person View

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