Students

BIOL3120 – Human Genetics and Evolutionary Medicine

2026 – Session 1, In person-scheduled-weekday, North Ryde

General Information

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Unit convenor and teaching staff Unit convenor and teaching staff
Maggs X
maggs.x@mq.edu.au
Credit points Credit points
10
Prerequisites Prerequisites
130cp at 1000 level or above including BIOL2110
Corequisites Corequisites
Co-badged status Co-badged status
BIOX3120
Unit description Unit description

This unit deals with the molecular, cellular and population basis of the genetics of human beings in relation to disease and evolutionary medicine. Topics include: genetics, genomics, disease gene discovery, evolutionary medicine and the social and ethical implications of studies in human genetics. Emphasis is placed upon the enormous impact which recent molecular advances have had upon the subject, as well as techniques of genetic analysis. Comparisons with the genetics of other vertebrates are made wherever appropriate.

Learning in this unit enhances student understanding of global challenges identified by the United Nations Sustainable Development Goals (UNSDGs) Good Health and Well Being

Important Academic Dates

Information about important academic dates including deadlines for withdrawing from units are available at https://www.mq.edu.au/study/calendar-of-dates

Learning Outcomes

On successful completion of this unit, you will be able to:

  • ULO1: Solve problems in human genetics using appropriate analytical methods and a variety of up to date resources
  • ULO2: Interpret and demonstrate understanding of the primary scientific literature
  • ULO3: Explain the importance of new techniques in human genetics for understanding human disease
  • ULO4: Explain the principles of evolutionary biology and their role in human health and disease
  • ULO5: Utilise basic bioinformatic skills, including handling of genetic sequence data
  • ULO6: Understand genetics and its basis in human disease

General Assessment Information

General Assessment Information

Requirements to Pass this Unit

To pass this unit you must ahieve a total mark equal to or greater than 50%.

There are no hurdle assessments.

Late Assessment Submission and Penalties 

Unless a Special Consideration request has been submitted and approved, or an automatic short extension has been granted, a 5% penalty (of the total possible mark of the task) will be applied for each day a written report or presentation assessment is not submitted, up until the 7th day (including weekends). After the 7th day, a grade of ‘0’ will be awarded even if the assessment is submitted. The submission time for all uploaded assessments is 11:55 pm. A 1-hour grace period will be provided to students who experience a technical concern. For any late submission of time-sensitive tasks, such as scheduled tests/exams, performance assessments/presentations, and/or scheduled practical assessments/labs, please apply for Special Consideration. 

Assessments where Late Submissions will be accepted

AT1 Bioinformatic report: YES (standard late penalties apply)

AT2 Literature Review: YES (standard late penalties apply)

AT3 Final Exam: NO - special consideration required

Special Considerations

The Special Consideration Policy aims to support students who have been impacted by short-term circumstances or events that are serious, unavoidable and significantly disruptive, and which may affect their performance in assessment. If you experience circumstances or events that affect your ability to complete the assessments in this unit on time, please inform the convenor and submit a Special Consideration request through ask.mq.edu.au.

Automatic Short Extension

Short Extension is an automatic process that allows you to apply for an extended deadline on your assessment without the need to provide supporting documentation, offering immediate approval during brief, life-disrupting events. Please note: Short Extension is currently only available for certain assessments. Check this unit guide for details. Request for automatic short extensions is required before the assignment due date. If a short extension is granted and the assignment is submitted after the revised submission deadline, standard penalties will apply. 

 

 

Assessment Tasks

Name Weighting Hurdle Due Groupwork/Individual Short Extension AI Approach
Bioinformatic analysis with written report 25% No 04/04/2026 Individual Yes Open
Literature review 25% No 22/05/2026 Individual Yes Open
Examination 50% No Exam Period Individual No Observed

Bioinformatic analysis with written report

Assessment Type 1: Written Submission
Indicative Time on Task 2: 25 hours
Due: 04/04/2026
Weighting: 25%
Groupwork/Individual: Individual
Short extension 3: Yes
AI Approach: Open

You will assess degrees of pathogenicity associated with different genetic variants using bioinformatic protocols. Your analyses will be written up as a scientific report. 
On successful completion you will be able to:
  • Solve problems in human genetics using appropriate analytical methods and a variety of up to date resources
  • Interpret and demonstrate understanding of the primary scientific literature
  • Explain the principles of evolutionary biology and their role in human health and disease
  • Utilise basic bioinformatic skills, including handling of genetic sequence data
  • Understand genetics and its basis in human disease

Literature review

Assessment Type 1: Written Submission
Indicative Time on Task 2: 25 hours
Due: 22/05/2026
Weighting: 25%
Groupwork/Individual: Individual
Short extension 3: Yes
AI Approach: Open

You will write a literature review on a genomic technique used in evolutionary medicine. Your review will demonstrate understanding of the primary literature while explaining its importance for understanding, treating, or diagnosing a human disease.
On successful completion you will be able to:
  • Interpret and demonstrate understanding of the primary scientific literature
  • Explain the importance of new techniques in human genetics for understanding human disease
  • Understand genetics and its basis in human disease

Examination

Assessment Type 1: Examination
Indicative Time on Task 2: 32 hours
Due: Exam Period
Weighting: 50%
Groupwork/Individual: Individual
Short extension 3: No
AI Approach: Observed

You will complete a formal final examination that assesses your understanding of all topics covered in the unit. You will apply the skills you’ve developed by solving genetic problem sets and demonstrating your knowledge of key terms and concepts.
On successful completion you will be able to:
  • Solve problems in human genetics using appropriate analytical methods and a variety of up to date resources
  • Explain the importance of new techniques in human genetics for understanding human disease
  • Explain the principles of evolutionary biology and their role in human health and disease
  • Utilise basic bioinformatic skills, including handling of genetic sequence data
  • Understand genetics and its basis in human disease

1 If you need help with your assignment, please contact:

  • the academic teaching staff in your unit for guidance in understanding or completing this type of assessment
  • Academic Success for academic skills support.

2 Indicative time-on-task is an estimate of the time required for completion of the assessment task and is subject to individual variation.

3 An automatic short extension is available for some assessments. Apply through the Service Connect Portal.

Delivery and Resources

Some notes on unit delivery

Week 1 classes

In week 1 you will be required to engage and complete the lecture activities, available through iLearn. Please also attend the drop in session Wednesday 2pm (zoom link on iLearn).

Practical classes will not run until week 3.

Methods of communication

We will communicate with you via your university email or through announcements on iLearn. Queries to convenors can either be placed on the iLearn discussion board or sent to maggs.x@mq.edu.au

COVID Information

For the latest information on the University’s response to COVID-19, please refer to the Coronavirus infection page on the Macquarie website: https://www.mq.edu.au/about/coronavirus-faqs. If there are any changes to this unit in relation to COVID, these will be communicated via iLearn.

 

Policies and Procedures

Macquarie University policies and procedures are accessible from Policy Central (https://policies.mq.edu.au). Students should be aware of the following policies in particular with regard to Learning and Teaching:

Students seeking more policy resources can visit Student Policies (https://students.mq.edu.au/support/study/policies). It is your one-stop-shop for the key policies you need to know about throughout your undergraduate student journey.

To find other policies relating to Teaching and Learning, visit Policy Central (https://policies.mq.edu.au) and use the search tool.

Student Code of Conduct

Macquarie University students have a responsibility to be familiar with the Student Code of Conduct: https://students.mq.edu.au/admin/other-resources/student-conduct

Results

Results published on platform other than eStudent, (eg. iLearn, Coursera etc.) or released directly by your Unit Convenor, are not confirmed as they are subject to final approval by the University. Once approved, final results will be sent to your student email address and will be made available in eStudent. For more information visit connect.mq.edu.au or if you are a Global MBA student contact globalmba.support@mq.edu.au

Academic Integrity

At Macquarie, we believe academic integrity – honesty, respect, trust, responsibility, fairness and courage – is at the core of learning, teaching and research. We recognise that meeting the expectations required to complete your assessments can be challenging. So, we offer you a range of resources and services to help you reach your potential, including free online writing and maths support, academic skills development and wellbeing consultations.

Student Support

Macquarie University provides a range of support services for students. For details, visit http://students.mq.edu.au/support/

Academic Success

Academic Success provides resources to develop your English language proficiency, academic writing, and communication skills.

The Library provides online and face to face support to help you find and use relevant information resources. 

Student Services and Support

Macquarie University offers a range of Student Support Services including:

Student Enquiries

Got a question? Ask us via the Service Connect Portal, or contact Service Connect.

IT Help

For help with University computer systems and technology, visit http://www.mq.edu.au/about_us/offices_and_units/information_technology/help/. 

When using the University's IT, you must adhere to the Acceptable Use of IT Resources Policy. The policy applies to all who connect to the MQ network including students.

Changes from Previous Offering

Changes to the unit from last offering

We value student feedback to be able to continually improve the way we offer our units. As such we encourage students to provide constructive feedback via student surveys, to the teaching staff directly, or via the FSE Student Experience & Feedback link in the iLearn page.

Compared to the previous offering, the assessments have been revised. Problem sets are provided in practicals, however these are no longer assessed. Instead a bioinformatic report will be assessed, encouraging students to harness their writing skills, bioinformatic skills and team work. 

Unit information based on version 2026.02 of the Handbook