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:
- 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
- Explain how variation in the coding and non-coding components of the human genome that can result in genetic disease
- Discuss how the latest advances in genomic technologies and how they can be applied to disease gene identification and precision medicine
- Predict how environmental factors can contribute to genetic disease
- Explain and evaluate the importance of model organisms and systems to our investigation of basic principles in human genetics
- Explain and evaluate the societal issues raised by new genetic technologies and treatments
- 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
- Evaluate, synthesise and critically review literature describing recent research into human genetics
Indicative Assessment
- 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]
- 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.
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 (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
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.
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 |
|---|---|
| 2024 | $5280 |
- International fee paying students
| Year | Fee |
|---|---|
| 2024 | $7080 |
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 |
|---|---|---|---|---|---|---|
| 2794 | 19 Feb 2024 | 26 Feb 2024 | 05 Apr 2024 | 24 May 2024 | In Person | View |
