- Code BIOL3204
- 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, Genetics, Biomedical Science
See https://www.anu.edu.au/covid-19-advice. In Sem 1 2022, this course is delivered on campus with adjustments for remote participants.
This course provides an introduction to new discoveries in areas of importance to our understanding of human genetics and disease. Fuelled by sequencing of the human genome and new methods of investigating biological function, research into the genetic and molecular causes of human disease is advancing at a rapid pace. We will examine not only the genetic abnormalities underlying human disease and disorders but also the breakdown in physiological processes and molecular biology caused by the genetic lesion. We will look at how this knowledge can lead to new disease treatments and to personalised precision medicine. We will also explore some of the societal issues raised by new technologies and treatments. We will cover topics including:
• Fundamental concepts in human genetics
• Fundamental concepts in heredity and genomic medicine
• Genetic variation in individuals
• Genetic variation in populations
• Molecular basis of genetic disease
Upon successful completion, students will have the knowledge and skills to:
- Explain fundamental concepts in heredity, human genetics and genomic medicine using specific disease examples
- Describe variation in the coding and non-coding components of the human genome that can result in genetic disease
- Discuss how the latest advances in genomic technologies can be applied to disease gene identification and precision medicine
- Predict how environmental factors can contribute to genetic disease
- Explain and evaluate the importance of model organisms and systems to our investigation of basic principles in human genetics
- Explain and evaluate the societal issues raised by new genetic technologies and treatments
- Identify and navigate specialised web sites and databases used for research into human genetics
- Evaluate and critically review literature describing recent research into human genetics
- Take-home assignments of computer practicals to apply knowledge to experimental and theoretical problems (3 assignments, 20% each) (60) [LO 1,2,3,4,5,6,7,8]
- Final examination to assess students’ understanding of human genetics and application of their knowledge (40) [LO 1,2,3,4,5,6]
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The expected workload will consist of approximately 130 hours throughout the semester including:
- Face-to face component which may consist of 2-3 lectures per week (36 hours per semester) and up to 18 hours of laboratory and computer sessions per semester.
- Approximately 76 hours of self-study which will include preparation for lectures, presentations and other assessment tasks.
To be 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.
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:
- Unit value:
- 6 units
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