• Offered by John Curtin School of Medical Research
  • ANU College ANU Joint Colleges of Science
  • Course subject Biology
  • Areas of interest Medical Science, Genetics, Biomedical Science
  • Academic career UGRD
  • Course convener
    • AsPr Ruth Arkell
  • Mode of delivery In Person
  • Co-taught Course
  • Offered in First Semester 2017
    See Future Offerings

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 medicine.  We will explore some of the societal issues raised by new technologies and treatments. We will cover topics including:

• Genes in pedigrees and populations

• Human genetic variability and its consequences

• Genomic technologies and their application to human genetics

• Disease gene identification

• The non-coding genome

• The epigenome

• Genetic risk

• Personalised medicine

• New horizons in human genetics


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. Identify and navigate specialised web sites and databases for research into human genetics
  2. Evaluate and critically review literature describing recent research into human genetics
  3. Devise and support a hypothesis regarding the genetic basis of a human disease
  4. Describe variation in the coding and non-coding components of the human genome that can result in genetic disease
  5. Describe epigenetic processes that influence the development of genetic disease
  6. Describe the approaches used to identify the genetic basis of inherited diseases
  7. Evaluate and explain the importance of model species to our investigation of basic principles in human genetics.
  8. Describe the latest advances in genomic technologies and their application to disease gene identification and personalised medicine
  9. Identify some of the societal issues raised by new technologies and treatments

Indicative Assessment

Assessment will examine proficiency in scientific communication and practical work as well as understanding of theory. A sliding scale of assessment between the essay and exam permits students to focus on areas of interest and/or strength by designating the weight of these assessment items.
Assessment will be based on:
  1. Take-home assignments to assist with writing skills and essay topic selection (3 assignments, 5% each) (LO 1-3)
  2. Take-home assignments of computer practicals (3 assignments, 5% each) (LO 8)
  3. A research essay and final exam that together are worth 70%. Each student can accept a default value of 35% for the essay and 35% for the exam or can designate the weight of each component:
  • 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 (25% to 45% with weight designated by student) (LO 1-3 and 4-9 depending on topic)
  • Final examination to assess students’ understanding of the basic principles that underpin the field of human genetics (25% to 45% with weight designated by student) (LO 4-9)

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.


Contact: Two to three lectures per week and up to 18 hours of laboratory and computing sessions. Non contct: research essay - approximately 40 hours

Requisite and Incompatibility

To enrol in this course you must have completed BIOL2161. You are not able to enrol in this course if you have completed BIOL2152 or BIOL6204.

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
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.

First Semester

Class number Class start date Last day to enrol Census date Class end date Mode Of Delivery Class Summary
3313 20 Feb 2017 27 Feb 2017 31 Mar 2017 26 May 2017 In Person N/A

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