This course will extend on the Genetics of Human Disease I course, focussing on more advanced topics of human genetics and disease. We will examine the genetics of non-Mendelian disorders, including those exhibiting sex-linked, mitochondrial, transgenerational and complex modes of inheritance. These will be studied at both conceptual and disease-specific levels, with additional focus on the use of genetics to elucidate disease mechanism and develop therapies. We will also present the latest advances and representative examples pertaining to other advanced genetic concepts such as genome evolution, gene-environment interactions, and higher order genome organisation and regulation. We will cover topics including:
Included topics:
- Non-Mendelian inherited diseases.
- Complex trait genetics
- Gene-environment interactions
- Neurogenetics
- Impact of disease on genome evolution
- Genetic approaches to treating disease
- Higher order genome structure and gene expression
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:- Proficiently locate and use web-based and literature-based resources to investigate hypotheses in the field of human genetics.
- Explain how genetic mutations cause disease in humans and relate this to the underlying physiological basis.
- Demonstrate how the genetic basis of complex genetic traits is determined.
- Describe how current and experimental-based therapies act to control and cure genetic diseases.
- Describe how interactions between environmental factors and genes influence disease phenotypes.
- Explain how selective pressure has affected the evolution of the human genome.
- Describe how phenotypic expression and disease can be determined by cis- and trans-acting DNA elements.
Indicative Assessment
Assessment will examine proficiency in individual research, understanding of the theory and practical work.- Research essay (3000 word) on the current state of knowledge and recent advances in an area of human molecular genetics of specific interest to the student (30%) (LO 4-7 depending on topic)
- Take-home assignments that extend on lecturer-lead tutorials. Comprise of short answers relating to interpretation of prescribed research articles, or specific topics and questions set by the lecturer. (3 assignments, 10% each; total 30%) (LO 1-3)
- Final examination to assess students’ understanding (40%) (LO 2-7)
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
Three lectures per week and computer practicals; total workload ~ 45 contact hours in semester. In addition, the course requires substantial number of self-assigned (i.e. non-contact) hours.Requisite and Incompatibility
Prescribed Texts
Human Molecular genetics 4th Edition Strachan and ReadAssumed Knowledge
BIOL2151 is strongly recommended.Majors
Specialisations
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 |
|---|---|
| 2018 | $4080 |
- International fee paying students
| Year | Fee |
|---|---|
| 2018 | $5760 |
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 |
|---|---|---|---|---|---|---|
| 9513 | 23 Jul 2018 | 30 Jul 2018 | 31 Aug 2018 | 26 Oct 2018 | In Person | N/A |
