- 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
All activities that form part of this course will be delivered remotely in Sem 2 2020.
This course will extend 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 gene environment 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:
- 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.
- Take-home assignments 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. (3 assignments, 12% each; total 36%) (36) [LO 2,3,4]
- One mid-term and one final examination to assess students’ understanding (32% each) (64) [LO 1,2,3,5]
In response to COVID-19: Please note that Semester 2 Class Summary information (available under the classes tab) is as up to date as possible. Changes to Class Summaries not captured by this publication will be available to enrolled students via Wattle.
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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-study which will include preparation for lectures, presentations and other assessment tasks.
Not yet determined
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.
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- 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.
Offerings, Dates and Class Summary Links
Class summaries, if available, can be accessed by clicking on the View link for the relevant class number.