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
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:
On satisfying the requirements of this course, students will have the knowledge and skills to:- Demonstrate a high level of proficiency in navigating relevant literature, web sites and databases for research into human genetics and in using these sources to develop and test hypotheses in the field of human genetics
- Describe the approaches used to identify the genetic basis of simple, heterogeneous and complex traits and appreciate the duties, responsibilities and challenges facing the professionals who perform these analyses
- Explain the genetic (coding and non-coding) and epigenetic mechanisms of gene expression control and their role in human inherited disease
- Explain the changing importance of model species to our investigation of basic principles in human genetics
- Explain the theoretical and practical basis of the latest advances in genomic technologies and their application to disease gene identification and personalised medicine
- Identify and analyse the ethical issues and dilemmas 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:
- Take-home assignments of computer practicals (3 assignments, 5% each) (LO 5)
- A research essay and final exam that together are worth 85%. Each student can accept a default value of 42.5% for the essay and 42.5% for the exam or can designate the weight of each component:
- Substantial research essay on an area of human molecular genetics of interest to the student (4000 words), and ideally relevant to their chosen area of postgraduate study (25%-60% with weight designated by student) (LO 1 and 2-6 depending upon topic)
- Final examination to assess students' understanding of the basic principles that underpin the field of human genetics (25%-60% with weight designated by student) (LO 2-6).
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.
Workload
Contact: Two to three lectures per week and up to 18 hours of laboratory and computing sessions. Non contct: research essay - approximately 50 hoursRequisite and Incompatibility
Prescribed Texts
Human Molecular genetics 4th Edition Strachan and Read
Assumed Knowledge
BIOL6006 is strongly recommended.
Fees
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:
- 3
- 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.
| Units | EFTSL |
|---|---|
| 6.00 | 0.12500 |
Course fees
- Domestic fee paying students
| Year | Fee |
|---|---|
| 2019 | $4560 |
- International fee paying students
| Year | Fee |
|---|---|
| 2019 | $6060 |
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 |
|---|---|---|---|---|---|---|
| 3049 | 25 Feb 2019 | 04 Mar 2019 | 31 Mar 2019 | 31 May 2019 | In Person | View |