- Code BIOL3205
- Unit Value 6 units
- Offered by John Curtin School of Medical Research
- ANU College ANU Joint Colleges of Science
- Course subject Biology
- Areas of interest Medical Science, Cell and Molecular Biology, Genetics, Biomedical Science
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 and geneenvironment interactions.
We will cover topics including:
• Complex trait genetics in Non-Mendelian inherited diseases, including pulmonary disease, vision disorders,
diabetes and cardiovascular disease.
• Gene-environment interactions
• Impact of disease on genome evolution
• Genetic approaches to treating disease
• Genome editing technologies, including CRISPR-Cas9.
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.
Indicative AssessmentAssessment will examine proficiency in individual research, understanding of the theory and practical work:
- 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, 12% each; total 36%) (LO 1, 3-6)
- One mid-term and one final examination to assess students’ understanding (32% each) (LO 2, 4-6)
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.
WorkloadThree lectures per week and one tutorial per week for most weeks ~ 45 contact hours in semester. Inaddition, the course requires substantial number of self-assigned (i.e. non-contact) hours.
Requisite and Incompatibility
Prescribed TextsHuman Molecular genetics 4th Edition Strachan and Read
Assumed KnowledgeBIOL2151 is strongly recommended.
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:
- 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.