• Class Number 3049
  • Term Code 2930
  • Class Info
  • Unit Value 6 units
  • Mode of Delivery In Person
    • Prof Ruth Arkell
  • Class Dates
  • Class Start Date 25/02/2019
  • Class End Date 31/05/2019
  • Census Date 31/03/2019
  • Last Date to Enrol 04/03/2019
    • Dr Kristen Barratt
SELT Survey Results

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


Note: Graduate students attend joint classes with undergraduates but are assessed separately.

Learning Outcomes

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:
  1. Demonstrate a high level of proficiency in navigating relevant literature, web sites and databases for research into human genetics and in using these sources to develop and test hypotheses in the field of human genetics
  2. Describe the approaches used to identify the genetic basis of simple, heterogeneous and complex traits and appreciate the duties, responsibilities and challenges facing the professionals who perform these analyses
  3. Explain the genetic (coding and non-coding) and epigenetic mechanisms of gene expression control and their role in human inherited disease
  4. Explain the changing importance of model species to our investigation of basic principles in human genetics
  5. Explain the theoretical and practical basis of the latest advances in genomic technologies and their application to disease gene identification and personalised medicine
  6. Identify and analyse the ethical issues and dilemmas raised by new technologies and treatments

Research-Led Teaching

Practical classes use techniques and data from research projects and require the same active learning techniques used in a research setting.

Lectures provided by ANU researchers and Canberra Hospital staff with examples based around their research and/or health role.

Examination Material or equipment

Permitted materials: Non-programmable Calculator

Recommended Textbooks:

Genetics: a conceptual approach.

6th Edition 2017, Benjamin A Pierce.     

Genetics: A Conceptual Approach

Thompson & Thompson Genetics in Medicine 8th Edition 2015

Authors: Robert Nussbaum Roderick McInnes Huntington Willard

Thompson & Thompson Genetics in Medicine - 8th Edition - ISBN: 9781437706963, 9780323392020

Staff Feedback

Students will be given feedback in the following forms in this course:

  • Via the feedback function of Turnitin
  • Face-to-face discssion with assessment marker at student drop-in sessions

Student Feedback

ANU is committed to the demonstration of educational excellence and regularly seeks feedback from students. Students are encouraged to offer feedback directly to their Course Convener or through their College and Course representatives (if applicable). The feedback given in these surveys is anonymous and provides the Colleges, University Education Committee and Academic Board with opportunities to recognise excellent teaching, and opportunities for improvement. The Surveys and Evaluation website provides more information on student surveys at ANU and reports on the feedback provided on ANU courses.

Class Schedule

Week/Session Summary of Activities Assessment
1 Course structure weeks 1-12: 2-3 lectures per week 1 computer practical per week class (up to 3 hours) Optional student drop-in session (up to 2 hours). Student driven content in which tutors are available to clarify assignment tasks, assignment feedback and lecture content Take home assignments following each practical

Assessment Summary

Assessment task Value Due Date Return of assessment Learning Outcomes
Assignment 1 (corresponding to practical class) 20 % 19/03/2019 01/04/2019 1,2,3,4,5,6
Assignment 2 (corresponding to practical class) 20 % 23/04/2019 06/05/2019 1,2,3,4,5,6
Assignment 3 (corresponding to practical class) 20 % 21/05/2019 03/06/2019 1,2,3,4,5,6
Final Exam 40 % 06/06/2019 04/07/2019 2,3,4,5,6

* If the Due Date and Return of Assessment date are blank, see the Assessment Tab for specific Assessment Task details


ANU has educational policies, procedures and guidelines, which are designed to ensure that staff and students are aware of the University’s academic standards, and implement them. Students are expected to have read the Academic Misconduct Rule before the commencement of their course. Other key policies and guidelines include:

Assessment Requirements

The ANU is using 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. For additional information regarding Turnitin please visit the ANU Online website. In rare cases where online submission using Turnitin software is not technically possible; or where not using Turnitin software has been justified by the Course Convener and approved by the Associate Dean (Education) on the basis of the teaching model being employed; students shall submit assessment online via ‘Wattle’ outside of Turnitin, or failing that in hard copy, or through a combination of submission methods as approved by the Associate Dean (Education). The submission method is detailed below.

Moderation of Assessment

Marks that are allocated during Semester are to be considered provisional until formalised by the College examiners meeting at the end of each Semester. If appropriate, some moderation of marks might be applied prior to final results being released.


No classes are compulsory but an attendance record will be compiled from all class types


It is not necessary to pass the exam to pass the course.

Permitted materials in all exams: Non-programmable Calculator

Further information on the exam format will be provided during the course.

Please note, that where a date range is used in the Assessment Summary in relation to exams, the due date and return date indicate the approximate timeframe in which the exam will be held and results returned to the student (official end of Semester results released on ISIS). Students should consult the course wattle site and the ANU final examination timetable to confirm the date, time and venue of the exam.

Assessment Task 1

Value: 20 %
Due Date: 19/03/2019
Return of Assessment: 01/04/2019
Learning Outcomes: 1,2,3,4,5,6

Assignment 1 (corresponding to practical class)

The assignment set will consist of written question/short answer based problems. Assignments will be made available on Wattle as far in advance of the corresponding practical class as is reasonably possible.

Due: ~ 1 week after the last associated practical

Returned: One to two weeks after submission

Assessment Task 2

Value: 20 %
Due Date: 23/04/2019
Return of Assessment: 06/05/2019
Learning Outcomes: 1,2,3,4,5,6

Assignment 2 (corresponding to practical class)

The assignment set will consist of written question/short answer based problems. Assignments will be made available on Wattle as far in advance of the corresponding practical class as is reasonably possible.

Due: ~ 1 week after the last associated practical

Returned: One to two weeks after submission

Assessment Task 3

Value: 20 %
Due Date: 21/05/2019
Return of Assessment: 03/06/2019
Learning Outcomes: 1,2,3,4,5,6

Assignment 3 (corresponding to practical class)

The assignment set will consist of written question/short answer based problems. Assignments will be made available on Wattle as far in advance of the corresponding practical class as is reasonably possible.

Due: ~ 1 week after the last associated practical

Returned: One to two weeks after submission

Assessment Task 4

Value: 40 %
Due Date: 06/06/2019
Return of Assessment: 04/07/2019
Learning Outcomes: 2,3,4,5,6

Final Exam

The date range in the Assessment Summary indicates the start of the end of semester exam period and the date official end of semester results are released on ISIS. Please check the ANU final Examination Timetable http://www.anu.edu.au/students/program-administration/assessments-exams/examination-timetable to confirm the date, time and location exam.

Academic Integrity

Academic integrity is a core part of our culture as a community of scholars. At its heart, academic integrity is about behaving ethically. This means that all members of the community commit to honest and responsible scholarly practice and to upholding these values with respect and fairness. The Australian National University commits to embedding the values of academic integrity in our teaching and learning. We ensure that all members of our community understand how to engage in academic work in ways that are consistent with, and actively support academic integrity. The ANU expects staff and students to uphold high standards of academic integrity and act ethically and honestly, to ensure the quality and value of the qualification that you will graduate with. The University has policies and procedures in place to promote academic integrity and manage academic misconduct. Visit the following Academic honesty & plagiarism website for more information about academic integrity and what the ANU considers academic misconduct. The ANU offers a number of services to assist students with their assignments, examinations, and other learning activities. The Academic Skills and Learning Centre offers a number of workshops and seminars that you may find useful for your studies.

Online Submission

You will be required to electronically sign a declaration as part of the submission of your assignment. Please keep a copy of the assignment for your records. Unless an exemption has been approved by the Associate Dean (Education) submission must be through Turnitin.

Hardcopy Submission

For some forms of assessment (hand written assignments, art works, laboratory notes, etc.) hard copy submission is appropriate when approved by the Associate Dean (Education). Hard copy submissions must utilise the Assignment Cover Sheet. Please keep a copy of tasks completed for your records.

Late Submission

Late submission permitted. Late submission of assessment tasks without an extension are penalised at the rate of 5% of the possible marks available per working day or part thereof. Late submission of assessment tasks is not accepted after 10 working days after the due date, or on or after the date specified in the course outline for the return of the assessment item. Late submission is not accepted for take-home examinations.

Referencing Requirements

Accepted academic practice for referencing sources that you use in presentations can be found via the links on the Wattle site, under the file named “ANU and College Policies, Program Information, Student Support Services and Assessment”. Alternatively, you can seek help through the Students Learning Development website.

Returning Assignments

Assignments will be returned via Turnitin or as agreed with the convenor for hard copy submissions.

Extensions and Penalties

Extensions and late submission of assessment pieces are covered by the Student Assessment (Coursework) Policy and Procedure. The Course Convener may grant extensions for assessment pieces that are not examinations or take-home examinations. If you need an extension, you must request an extension in writing on or before the due date. If you have documented and appropriate medical evidence that demonstrates you were not able to request an extension on or before the due date, you may be able to request it after the due date.

Resubmission of Assignments

Resubmission of assignments is not allowed.

Privacy Notice

The ANU has made a number of third party, online, databases available for students to use. Use of each online database is conditional on student end users first agreeing to the database licensor’s terms of service and/or privacy policy. Students should read these carefully. In some cases student end users will be required to register an account with the database licensor and submit personal information, including their: first name; last name; ANU email address; and other information.
In cases where student end users are asked to submit ‘content’ to a database, such as an assignment or short answers, the database licensor may only use the student’s ‘content’ in accordance with the terms of service – including any (copyright) licence the student grants to the database licensor. Any personal information or content a student submits may be stored by the licensor, potentially offshore, and will be used to process the database service in accordance with the licensors terms of service and/or privacy policy.
If any student chooses not to agree to the database licensor’s terms of service or privacy policy, the student will not be able to access and use the database. In these circumstances students should contact their lecturer to enquire about alternative arrangements that are available.

Distribution of grades policy

Academic Quality Assurance Committee monitors the performance of students, including attrition, further study and employment rates and grade distribution, and College reports on quality assurance processes for assessment activities, including alignment with national and international disciplinary and interdisciplinary standards, as well as qualification type learning outcomes.

Since first semester 1994, ANU uses a grading scale for all courses. This grading scale is used by all academic areas of the University.

Support for students

The University offers students support through several different services. You may contact the services listed below directly or seek advice from your Course Convener, Student Administrators, or your College and Course representatives (if applicable).

Prof Ruth Arkell
6125 9158

Research Interests

Prof Ruth Arkell

Dr Kristen Barratt
6125 3394

Research Interests

Dr Kristen Barratt

Responsible Officer: Registrar, Student Administration / Page Contact: Website Administrator / Frequently Asked Questions