- 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
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 medicine. We will explore some of the societal issues raised by new technologies and treatments. We will cover topics including:
• Genes in pedigrees and populations
• Human genetic variability and its consequences
• Genomic technologies and their application to human genetics
• Disease gene identification
• The non-coding genome
• The epigenome
• Genetic risk
• Personalised medicine
• New horizons in human genetics
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:
- Identify and navigate specialised web sites and databases for research into human genetics
- Evaluate and critically review literature describing recent research into human genetics
- Devise and support a hypothesis regarding the genetic basis of a human disease
- Describe variation in the coding and non-coding components of the human genome that can result in genetic disease
- Describe epigenetic processes that influence the development of genetic disease
- Describe the approaches used to identify the genetic basis of inherited diseases
- Evaluate and explain the importance of model species to our investigation of basic principles in human genetics.
- Describe the latest advances in genomic technologies and their application to disease gene identification and personalised medicine
- Identify some of the societal issues raised by new technologies and treatments
Indicative AssessmentAssessment will examine proficiency in scientific communication and practical work as well as understanding of theory. A sliding scale of assessment between the essay and exam permits students to focus on areas of interest and/or strength by designating the weight of these assessment items.
Assessment will be based on:
- Take-home assignments to assist with writing skills and essay topic selection (3 assignments, 5% each) (LO 1-3)
- Take-home assignments of computer practicals (3 assignments, 5% each) (LO 8)
- A research essay and final exam that together are worth 70%. Each student can accept a default value of 35% for the essay and 35% for the exam or can designate the weight of each component:
- 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 (25% to 45% with weight designated by student) (LO 1-3 and 4-9 depending on topic)
- Final examination to assess students’ understanding of the basic principles that underpin the field of human genetics (25% to 45% with weight designated by student) (LO 4-9)
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.
WorkloadContact: Two to three lectures per week and up to 18 hours of laboratory and computing sessions. Non contct: research essay - approximately 40 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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