- Code BIOL6205
- 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 the Genetics of Human Disease I course, focussing on more advanced topics of human genetics and disease. We will examine the genetics of non-This course focusses on understanding genetic and molecular causes of important human diseases. Recent advances in human genomics, genome-editing and molecular therapeutics are enabling unprecedented understanding and treatment of many important human diseases. Using a range of specific diseases as examples, this course will examine how genetic and genomic technologies may be applied to elucidate disease mechanisms and develop therapies. It will also cover contemporary and advanced concepts in human genetics that extend on topics taught in BIOL3204/6204 Genetics of Human Disease, such as genome evolution, gene-environment interactions, mutation prediction, and genetic regulation and genome editing. The course is taught largely by medical researchers working at the John Curtin School of Medical Research, and the topics incorporate their own specific research interests.
We will cover topics including:
• Disorders and diseases affected the pulmonary, blood, endocrine, vision and neurological systems.
• Genomic analysis tools for mutation prediction and generation, including genome editing.
• Impact of disease on genome evolution.
• Genetic approaches to treating disease.
Note: Graduate students attend joint classes with undergradutes but are assessed separately.
Upon successful completion, students will have the knowledge and skills to:
- Explain and evaluate how genetic mutations cause disease and variable phenotypes in humans.
- Describe the genetic basis of specific diseases, how genetics assists in understanding pathophysiology and treatment options, and differentiate the current knowledge gaps.
- Explain the concept and evidential basis of selective pressure, and illustrate how selection affects disease gene frequency and inheritance.
- Review and critically evaluate 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.
Please email email@example.com to request a permission code to enrol in this course.
- Significant research report on the current state of knowledge and recent advances in an area of human molecular genetics of specific interest to the student. (14) [LO 1,2,4]
- Take-home assignments and quizzes 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. (30) [LO 2,3,4]
- One mid-term and one final examination to assess students’ understanding (56) [LO 1,2,3,5]
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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 directed study which will include preparation for lectures, presentations and other assessment tasks.
Not yet determined
Requisite and Incompatibility
You will need to contact the John Curtin School of Medical Research to request a permission code to enrol in this course.
Prescribed TextsHuman Molecular genetics 4th Edition Strachan and Read
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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