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.
Learning Outcomes
Upon successful completion, students will have the knowledge and skills to:
- Evaluate how genetic variation can cause human disease
- Examine and reflect on the environmental and societal issues raised by genetics in medicine
- Analyse how research methodology can be used to link genetic variation to disease
- Apply in silico tools to investigate genetic information
- Evaluate and critically assess information describing recent research into human genetics
Indicative Assessment
- Assignments related to computer practicals (2 assignments, 20% each) (40) [LO 1,3,4,5]
- Reflection assignment (10) [LO 2,5]
- Lecture quizzes (10) [LO 1,3]
- Final examination (40) [LO 1,2,3,5]
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.
Workload
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 (1 hr each; 36 hours per semester), up to 18 hours of laboratory and computer sessions per semester (2-3 hours per session) and a 3 hour workshop.
- Approximately 73 hours of self-directed study which will include preparation for lectures, presentations and other assessment tasks.
Inherent Requirements
No inherent requirements have been identified for this course.
Requisite and Incompatibility
Prescribed Texts
Genetics: a conceptual approach, 7th Edition 2020, Benjamin A Pierce.
Thompson & Thompson Genetics in Medicine 8th Edition 2016, Robert Nussbaum, Roderick McInnes and Huntington Willard
Assumed Knowledge
BIOL2151 is recommended.
Fees
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:
- 2
- 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.
| Units | EFTSL |
|---|---|
| 6.00 | 0.12500 |
Course fees
- Domestic fee paying students
| Year | Fee |
|---|---|
| 2025 | $5580 |
- International fee paying students
| Year | Fee |
|---|---|
| 2025 | $7440 |
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.
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 |
|---|---|---|---|---|---|---|
| 2674 | 17 Feb 2025 | 24 Feb 2025 | 31 Mar 2025 | 23 May 2025 | In Person | View |