This course focusses on understanding genetic and molecular causes of important human diseases. Recent advances in human genomics, genome-editing and molecular therapeutics are enabling unprecedented understanding and treatment of many important human diseases. Using a range of specific diseases as examples, this course will examine how genetic and genomic technologies may be applied to elucidate disease mechanisms and develop therapies. It will also cover contemporary and advanced concepts in human genetics that extend on topics taught in BIOL3204/6204 Genetics of Human Disease, such as genome evolution, gene-environment interactions, mutation prediction, and genetic regulation and genome editing. The course is taught largely by medical researchers working at the John Curtin School of Medical Research, and the topics incorporate their own specific research interests.
We will cover topics including:
• Disorders and diseases affected the pulmonary, blood, endocrine, vision and neurological systems.
• Genomic analysis tools for mutation prediction and generation, including genome editing.
• Impact of disease on genome evolution.
• Genetic approaches to treating disease.
Learning Outcomes
Upon successful completion, students will have the knowledge and skills to:
- Explain and categorise how genetic mutations cause disease and variable phenotypes in humans.
- Describe the genetic basis of specific diseases, and how genetics assists in understanding pathophysiology and treatment options.
- Explain the concept and evidential basis of selective pressure, and illustrate how selection affects disease gene frequency and inheritance.
- Access and utilise web-based and literature-based resources in the field of human disease genetics and pathophysiology.
- Understand and apply theories in the bioinformatic study of genes and disease-causing mutations.
Indicative Assessment
- Take-home assignments and quizzes that extend lecturer-lead tutorials. Comprise of short answers relating to interpretation of prescribed research articles, or specific topics and questions set by the lecturer. (36) [LO 2,3,4]
- One mid-term and one final examination to assess students’ understanding. (64) [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 consisting of three lectures per week and one 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
Not yet determined
Requisite and Incompatibility
Prescribed Texts
Human Molecular genetics 4th Edition Strachan and ReadAssumed 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 |
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.
Second Semester
| Class number | Class start date | Last day to enrol | Census date | Class end date | Mode Of Delivery | Class Summary |
|---|---|---|---|---|---|---|
| 7766 | 22 Jul 2024 | 29 Jul 2024 | 31 Aug 2024 | 25 Oct 2024 | In Person | N/A |
