This course provides a deep understanding of the genetic and molecular basics of human health, including diseases and the impact of environmental factors on well-being.
Recent advances in genomics, transcriptomics, proteomics and biocomputing, coupled with innovative genome editing and molecular therapeutic technologies, enabled unprecedented capabilities to monitor health, identify molecular drivers and treat human diseases with critical effects on quality of life and economy. Advanced analytical technologies drive the development of personalised therapeutic approaches to treat disease, guiding therapeutic decisions and treatment selection based on the specific biomolecular background of the patients.
Using a range of specific diseases or inheritance processes as examples, lecturers will introduce their own research and will provide examples of specific diseases, their underlying mechanisms or inheritance processes. This course will examine how genetic and genomic technologies and translational research can be applied to elucidate the disease mechanisms and develop novel therapies.
The course will cover contemporary and advanced concepts in human genetics and will expand on gene expression control, genome evolution, gene-environment interactions, mutation prediction and genome editing in application to medical problems.
The course is delivered by biomedical scientists working at the John Curtin School of Medical Research, and the topics incorporate their specific research interests and in-depth expertise, providing a unique opportunity to directly connect to the research performed in the top biomedical research groups.
You will learn about:
- Disorders and diseases affecting blood, reproductive, endocrine and neurological systems at the molecular level.
- Gene expression pathways and molecular control mechanisms invoked in inherited or acquired disorders and upon environmental pressures.
- Genomic analysis tools including next-generation sequencing approaches and methods of genome editing and non-invasive gene therapy.
- Biomolecular and computational approaches to diagnosing and treating disease.
Learning Outcomes
Upon successful completion, students will have the knowledge and skills to:
- Demonstrate detailed knowledge of the links between genomic variation, environmental impacts and disease phenotype.
- Analyse the molecular mechanisms that cause specific diseases and methods of their investigation.
- Apply next-generation biomolecular and computational methods in disease and diagnostics.
- Demonstrate knowledge of the concept of personalised medicine.
- Discuss and critically analyse research findings available in the published and peer-reviewed literature on human disease and pathophysiology.
- Communicate scientific concepts and findings in different formats.
Indicative Assessment
- Multiple-choice quizzes (12) [LO 1,2,3,4]
- Poster presentation (24) [LO 1,2,3,4,5,6]
- Research essay (24) [LO 1,2,3,4,5,6]
- Final exam (40) [LO 1,2,3,4]
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 consisting of three one-hour lectures per week and one two-hour tutorial per week for most weeks ~ 45 contact hours in semester.
- Approximately 85 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 and Genomics in Medicine. Thompson & Thompson (9th Edition) 2023. Elsevier.
Assumed Knowledge
BIOL2151 is strongly 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 |
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.
Second Semester
| Class number | Class start date | Last day to enrol | Census date | Class end date | Mode Of Delivery | Class Summary |
|---|---|---|---|---|---|---|
| 7598 | 27 Jul 2026 | 03 Aug 2026 | 31 Aug 2026 | 30 Oct 2026 | In Person | N/A |