• Offered by John Curtin School of Medical Research
  • ANU College ANU Joint Colleges of Science
  • Classification Advanced
  • Course subject Biology
  • Areas of interest Medical Science, Cell and Molecular Biology, Genetics, Biomedical Science
  • Academic career PGRD
  • Course convener
    • AsPr Brendan McMorran
  • Mode of delivery In Person
  • Co-taught Course
  • Offered in Second Semester 2021
    See Future Offerings

This course has been adjusted for remote participation in Sem 2 2021, however students are encouraged to attend on-campus activities if possible.

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.

Learning Outcomes

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

  1. Explain and evaluate how genetic mutations cause disease and variable phenotypes in humans.
  2. Describe the genetic basis of specific diseases, how genetics assists in understanding pathophysiology and treatment options, and differentiate the current knowledge gaps.
  3. Explain the concept and evidential basis of selective pressure, and illustrate how selection affects disease gene frequency and inheritance.
  4. Review and critically evaluate 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.

Other Information

Please email rsb.studentadmin@anu.edu.au to request a permission code to enrol in this course.

Indicative Assessment

  1. 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]
  2. 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]
  3. One mid-term and one final examination to assess students’ understanding (56) [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.


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 successfully completed BIOL6204. Incompatible with BIOL3205

You will need to contact the John Curtin School of Medical Research to request a permission code to enrol in this course.

Prescribed Texts

Human Molecular genetics 4th Edition Strachan and Read

Assumed Knowledge


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

If you are a domestic graduate coursework student with a Domestic Tuition Fee (DTF) place or international student you will be required to pay course tuition fees (see below). Course tuition fees are indexed annually. Further information for domestic and international students about tuition and other fees can be found at Fees.

Where there is a unit range displayed for this course, not all unit options below may be available.

6.00 0.12500
Domestic fee paying students
Year Fee
2021 $4920
International fee paying students
Year Fee
2021 $6540
Note: Please note that fee information is for current year only.

Offerings, Dates and Class Summary Links

ANU utilises MyTimetable to enable students to view the timetable for their enrolled courses, browse, then self-allocate to small teaching activities / tutorials so they can better plan their time. Find out more on the Timetable webpage.

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
6351 26 Jul 2021 02 Aug 2021 14 Sep 2021 29 Oct 2021 In Person View

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