- 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)
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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.
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- Student Contribution Band:
- Unit value:
- 6 units
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