• 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
  • Academic career UGRD
  • Course convener
    • AsPr Brendan McMorran
    • Dr Julia Ellyard
  • Mode of delivery In Person
  • Co-taught Course
  • Offered in Second Semester 2021
    See Future Offerings

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.

Learning Outcomes

Upon successful completion, students will have the knowledge and skills to:

  1. Explain and categorise how genetic mutations cause disease and variable phenotypes in humans.
  2. Describe the genetic basis of specific diseases, and how genetics assists in understanding pathophysiology and treatment options.
  3. Explain the concept and evidential basis of selective pressure, and illustrate how selection affects disease gene frequency and inheritance.
  4. Access and utilise web-based and literature-based resources in the field of human disease genetics and pathophysiology.
  5. Understand and apply theories in the bioinformatic study of genes and disease-causing mutations.

Indicative Assessment

  1. Take-home assignments and quizzes 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. (36) [LO 2,3,4]
  2. One mid-term and one final examination to assess students’ understanding. (64) [LO 1,2,3,5]

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.

Workload

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.

Inherent Requirements

Not yet determined

Requisite and Incompatibility

To enrol in this course you must have completed BIOL2161 and BIOL3204. Incompatible with BIOL6205.

Prescribed Texts

Human Molecular genetics 4th Edition Strachan and Read

Assumed Knowledge

BIOL2151 is strongly recommended.

Majors

Fees

Tuition fees are for the academic year indicated at the top of the page.  

If you are a domestic graduate coursework or international student you will be required to pay tuition fees. Tuition fees are indexed annually. Further information for domestic and international students about tuition and other fees can be found at Fees.

Student Contribution Band:
3
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.

Units EFTSL
6.00 0.12500
Note: Please note that fee information is for current year only.

Offerings, Dates and Class Summary Links

The list of offerings for future years is indicative only.
Class summaries, if available, can be accessed by clicking on the View link for the relevant class number.

Second Semester

Class number Class start date Last day to enrol Census date Class end date Mode Of Delivery Class Summary
6332 26 Jul 2021 02 Aug 2021 31 Aug 2021 29 Oct 2021 In Person N/A

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