CQUniversity Unit Profile
LMED29001 Genomic Pathology 1
Genomic Pathology 1
All details in this unit profile for LMED29001 have been officially approved by CQUniversity and represent a learning partnership between the University and you (our student).
The information will not be changed unless absolutely necessary and any change will be clearly indicated by an approved correction included in the profile.
General Information

Overview

Molecular and cellular pathology involves the study of disease processes at the molecular level and allows diagnosis of disease through the detection of genetic mutations, dysregulated gene expression and non functional or cytotoxic proteins. In this unit, you will learn about the role of cellular genetic material and associated genetic rearrangements and mutations. You will explore the application of molecular techniques, such as polymerase chain reaction and next generation sequencing, and their revolutionary impact on diagnostic testing. The residential school may be scheduled outside of the term of offering of the unit.

Details

Career Level: Postgraduate
Unit Level: Level 9
Credit Points: 6
Student Contribution Band: 8
Fraction of Full-Time Student Load: 0.125

Pre-requisites or Co-requisites

Prerequisites:Enrolment in Master of Laboratory Medicine.

Important note: Students enrolled in a subsequent unit who failed their pre-requisite unit, should drop the subsequent unit before the census date or within 10 working days of Fail grade notification. Students who do not drop the unit in this timeframe cannot later drop the unit without academic and financial liability. See details in the Assessment Policy and Procedure (Higher Education Coursework).

Offerings For Term 2 - 2025

Melbourne
Mixed Mode
Rockhampton

Attendance Requirements

All on-campus students are expected to attend scheduled classes - in some units, these classes are identified as a mandatory (pass/fail) component and attendance is compulsory. International students, on a student visa, must maintain a full time study load and meet both attendance and academic progress requirements in each study period (satisfactory attendance for International students is defined as maintaining at least an 80% attendance record).

Class and Assessment Overview

Recommended Student Time Commitment

Each 6-credit Postgraduate unit at CQUniversity requires an overall time commitment of an average of 12.5 hours of study per week, making a total of 150 hours for the unit.

Class Timetable

Bundaberg, Cairns, Emerald, Gladstone, Mackay, Rockhampton, Townsville
Adelaide, Brisbane, Melbourne, Perth, Sydney

Assessment Overview

1. Written Assessment
Weighting: 20%
2. Written Assessment
Weighting: 30%
3. Laboratory/Practical
Weighting: Pass/Fail
4. Examination
Weighting: 50%

Assessment Grading

This is a graded unit: your overall grade will be calculated from the marks or grades for each assessment task, based on the relative weightings shown in the table above. You must obtain an overall mark for the unit of at least 50%, or an overall grade of 'pass' in order to pass the unit. If any 'pass/fail' tasks are shown in the table above they must also be completed successfully ('pass' grade). You must also meet any minimum mark requirements specified for a particular assessment task, as detailed in the 'assessment task' section (note that in some instances, the minimum mark for a task may be greater than 50%). Consult the University's Grades and Results Policy for more details of interim results and final grades.

Previous Student Feedback

Feedback, Recommendations and Responses

Every unit is reviewed for enhancement each year. At the most recent review, the following staff and student feedback items were identified and recommendations were made.

Feedback from SUTE

Feedback

Students appreciate the short, bite-sized lecture recordings.

Recommendation

Consider continuing this method of recording and delivering lectures.

Feedback from SUTE

Feedback

Students like the case studies associated with each topics

Recommendation

Consider continuing and expanding the use of case studies in the tutorial sessions.

Feedback from SUTE

Feedback

Some students like the Kahoot Quizzes to be included in the tutorial sessions.

Recommendation

Consider re-introducing the Kahoot quizzes, and to be run towards the end of the tutorial sessions

Unit Learning Outcomes
On successful completion of this unit, you will be able to:
  1. Critically discuss how gene mutations or rearrangements underpin the molecular aetiology of particular diseases
  2. Evaluate the role of epigenetic modifications of the genome in disease pathogenesis
  3. Explain the process of identifying genetic modifications and their clinical significance
  4. Demonstrate skills in the use of genetic techniques in molecular pathology, including genetic amplification
  5. Explain the use of molecular pathology in disease diagnosis, prevention and treatment, including the development of personalised medicines.
Alignment of Learning Outcomes, Assessment and Graduate Attributes
N/A Level
Introductory Level
Intermediate Level
Graduate Level
Professional Level
Advanced Level

Alignment of Assessment Tasks to Learning Outcomes

Assessment Tasks Learning Outcomes
1 2 3 4 5
1 - Written Assessment - 20%
2 - Written Assessment - 30%
3 - Laboratory/Practical - 0%
4 - Examination - 50%

Alignment of Graduate Attributes to Learning Outcomes

Graduate Attributes Learning Outcomes
1 2 3 4 5
1 - Knowledge
2 - Communication
3 - Cognitive, technical and creative skills
4 - Research
5 - Self-management
6 - Ethical and Professional Responsibility
7 - Leadership
8 - Aboriginal and Torres Strait Islander Cultures
Textbooks and Resources

Textbooks

Information for Textbooks is not yet available.

The textbooks have not yet been finalised.

IT Resources

You will need access to the following IT resources:
  • CQUniversity Student Email
  • Internet
  • Unit Website (Moodle)
  • Microsoft Teams
Referencing Style

All submissions for this unit must use the referencing styles below:

For further information, see the Assessment Tasks.

Teaching Contacts
Jalal Jazayeri Unit Coordinator
j.jazayeri@cqu.edu.au
Schedule
Week 1 - Apoptosis, Necrosis and inflammation Begin Date: 14 Jul 2025

Module/Topic

Revision of Molecular Pathology- Apoptosis an Inflammation

Chapter

No prescribed textbook for this unit.

Pls review the lecture material and recordings available for week 1 in Moodle prior to your tutorial/lectorial as well as other provided resources in your Moodle for Week 1. 

Events and Submissions/Topic

Welcome and introduction to the unit. This session will provide an overview of the subject structure and outline the assessment components.

This week’s tutorial will focus on the concept of apoptosis and explore the biological processes involved in inflammation.

Week 2 - Omics Begin Date: 21 Jul 2025

Module/Topic

'Omics' techniques supporting molecular diagnosis, pathology and pathogenesis. This will include the study and analysis of various biological molecules that constitute the cells of an organism, such as genomics, proteomics, and metabolomics.

Chapter

No prescribed textbook for this unit.

Pls review the lecture material and recordings available for week 2 in Moodle prior to your tutorial/lectorial as well as the peer-reviewed article indicated for Week 2.

Events and Submissions/Topic

This week we'll review how omics tools (e.g. genomics, transcriptomics, proteomics, metabolomics) support molecular diagnosis, pathology, and understanding of disease pathogenesis.

Week 3 - Epigenetics Begin Date: 28 Jul 2025

Module/Topic

Epigenetics and human disease. The study of heritable changes in gene expression that do not involve changes to the DNA sequence, often involving mechanisms such as DNA methylation.

Chapter

No prescribed textbook for this unit.

Pls review the lecture material and recordings available for week 3 in Moodle prior to your tutorial/lectorial as well as the peer-reviewed article indicated for Week 3.

Events and Submissions/Topic

This week we will cover epigenetics—mechanisms such as DNA methylation and histone modification that regulate gene activity. Disruption of these processes can lead to diseases like cancer, neurological conditions, and developmental disorders.

Week 4 - Cardiovascular and Pulmonary Diseases Begin Date: 04 Aug 2025

Module/Topic

Molecular basis of cardiovascular and pulmonary diseases.

Chapter

No prescribed textbook for this unit.

Pls review the lecture material and recordings available for week 4 in Moodle prior to your tutorial/lectorial as well as the peer-reviewed article indicated for Week 4.

Events and Submissions/Topic

Molecular basis of cardiovascular and pulmonary diseases. Genetic, hormonal and metabolic aspects of PCOS.

Week 5 - Molecular basis for blood disorders Begin Date: 11 Aug 2025

Module/Topic

Molecular basis of blood disorders.

Chapter

No prescribed textbook for this unit.

Pls review the lecture material and recordings available for week 5 in Moodle prior to your tutorial/lectorial as well as the peer-reviewed article indicated for Week 5.

Events and Submissions/Topic

Molecular basis of blood disorders. Genetic basis of a Haemoglobinopathy/Thalassemia Syndrome. Revision.

Vacation Week Begin Date: 18 Aug 2025

Module/Topic

Chapter

Events and Submissions/Topic

Week 6 - Molecular basis of cancers - Colorectal, prostate and gynaecological cancers. Begin Date: 25 Aug 2025

Module/Topic

Molecular basis of colorectal, prostate and gynaecological cancers. 

Chapter

Pls review the lecture material and recordings available for week 6 in Moodle prior to your tutorial/lectorial as well as the peer-reviewed article indicated for Week 6.

Events and Submissions/Topic

Molecular basis of colorectal, prostate and gynaecological cancers. Analysis of a peer-reviewed article on a topic relevant to this week. 

Week 7 - Molecular basis of liver and kidney diseases Begin Date: 01 Sep 2025

Module/Topic

Molecular basis of liver and kidney disease.

Chapter

Pls review the lecture material and recordings available for week 7 in Moodle prior to your tutorial/lectorial as well as the peer-reviewed article indicated for Week 7.

Events and Submissions/Topic

Molecular basis of liver and kidney disease. Analysis of a peer-reviewed article on a topic relevant to this week.


Scientific Poster Design Due: Week 7 Monday (1 Sept 2025) 9:00 am AEST
Week 8 - Molecular basis of skin diseases Begin Date: 08 Sep 2025

Module/Topic

This week we will cove skin diseases such as filaggrin (eczema), keratin (epidermolysis bullosa), cytokines (psoriasis), allergens (contact dermatitis), and BRAF mutations (skin cancers).
NAFLD/NASH involve fat buildup, insulin resistance, and inflammation, explained by "two-hit" and "multiple-hit" models.

Chapter

Pls review the lecture material and recordings available for week 8 in Moodle prior to your tutorial/lectorial as well as the peer-reviewed article indicated for Week 8.

Events and Submissions/Topic

Molecular basis of skin diseases. Analysis of a peer-reviewed article on a topic relevant to this week.

Week 9 - Musculoskeletal Diseases Begin Date: 15 Sep 2025

Module/Topic

Molecular basis of Musculoskeletal Diseases 

Chapter

Pls review the lecture material and recordings available for week 9 in Moodle prior to your tutorial/lectorial as well as the peer-reviewed article/other relevant resources indicated for Week 9.

Events and Submissions/Topic

Molecular basis of Musculoskeletal Diseases. Analysis of a peer-reviewed article/other relevant resources on a topic relevant to this week.

 

Week 10 - Exocrine and Endocrine Systems Begin Date: 22 Sep 2025

Module/Topic

Molecular basis of Exocrine and Endocrine Systems

Chapter

Pls review the lecture material and recordings available for week 10 in Moodle prior to your tutorial/lectorial as well as the peer-reviewed article/other relevant resources indicated for Week 10.

Events and Submissions/Topic

Molecular basis of Exocrine and Endocrine Systems. Analysis of a peer-reviewed article/other relevant resources on a topic relevant to this week.


Molecular testing design Due: Week 10 Monday (22 Sept 2025) 9:00 pm AEST
Week 11 - Clinical Laboratory and Personalised Medicine Begin Date: 29 Sep 2025

Module/Topic

This week covers key laboratory techniques used to diagnose disease, including immunoassays, PCR, and other molecular and biochemical tests essential for accurate clinical diagnosis.

 

Chapter

Pls review the lecture material and recordings available for week 11 in Moodle prior to your tutorial/lectorial as well as the peer-reviewed article/other relevant resources indicated for Week 11.

Events and Submissions/Topic

Clinical Laboratory and Personalised Medicine. Analysis of a peer-reviewed article/other relevant resources on a topic relevant to this week.

Week 12 - Revision - All topics Begin Date: 06 Oct 2025

Module/Topic

Revision- ALL Topics

Chapter

Pls review the lecture material and recordings available for week 12 in Moodle prior to your tutorial/lectorial. 

Events and Submissions/Topic

 Revision, going over the past exam papers

Review/Exam Week Begin Date: 13 Oct 2025

Module/Topic

Chapter

Events and Submissions/Topic

Exam Week Begin Date: 20 Oct 2025

Module/Topic

Chapter

Events and Submissions/Topic

An invigilated examination will be scheduled in the scheduled examination period from 10 October 2024 - 18 October 2024. Students will be notified of the exact date once it has been scheduled.

Term Specific Information

Unit Coordinator:

Your unit coordinator for LMED29001, Genomic Pathology 1, is Dr. Jalal Jazayeri. Your primary contact point is Jalal, and you can contact him using the following means:

  • Via the subject Discussion Forum on the unit's Moodle site. The forum for this unit is continuously monitored and you can expect a response within one-two (1-2) business day/s of posting your question.
  • Through email (j.jazayeri@cqu.edu.au) or
  • Via Microsoft Teams.

Dr. Jazayeri is based in Melbourne, at 120 Spencer Street, level 4, Room number 4.02.

Your secondary contact point is A/Prof Genia Burchall and you can contact her using the following means:

  • Via the forum on the unit's Moodle site.
  • Through email (g.burchall@cqu.edu.au) or
  • Via Teams. 

Textbook:
There is no prescribed textbook for this subject. However, whenever required published journal articles relevant to each topic will be provided. These articles are up-to-date with the latest advancements in the field, ensuring that you have access to the most current research and developments.

Study Guide:
In line with Australian educational standards, you are expected to dedicate approximately 150 hours to this unit over the term—equating to around 12.5 hours per week. Each week, students should allocate time to the following activities:

  • 3 - 4 hours per week watching pre-recorded lectures and revising the content through study notes.
  • 2 - 3 hours per week completing the weekly study questions and weekly revision quizzes on the unit's Moodle site.
  • 2 - 3 hours per week attending the weekly tutorials and reflecting on your answers to the weekly revision worksheets.
  • 3 - 4 hours per week preparing for your assessments and end of term invigilated exam.

This unit also includes a compulsory laboratory component (Residential School), which will be conducted during the CM18 Residential Schools held from 15–19 September 2025 in Rockhampton, and during the second week of November 2025 at the Deakin University campus in Burwood, Melbourne."

Assessment Tasks

1 Written Assessment

Assessment Title
Scientific Poster Design

Task Description

You will be working individually to produce a scientific poster that investigates current molecular laboratory techniques used for the detection of viral, prion, parasitic, or fungal pathogens. A list of suggested molecular diagnostics techniques will be made available on the subject Moodle site, under Assessment 1- Topic Selection.

Each of you must:

  1. Select a topic from the provided list by the end of Week 2 (Friday, 25 July, 11:59 PM).
  2. focus on one molecular diagnostic technique
  3. use PowerPoint to prepare your poster as follows:
  • Title: Include the technique and relevance (e.g., “PCR for Viral Pathogen Detection”)
  • Introduction / Background: Briefly explain what the technique is and why it's important in diagnostics.
  • Principle of the Technique: Describe how the method works (include diagrams/flowcharts if possible).
  • Applications in Clinical Diagnostics: Provide examples of pathogens or diseases diagnosed with the technique.
  • Advantages and Limitations (combine into one section): Use a simple table or bullet points to contrast pros and cons.
  • References: Cite 4–6 relevant peer-reviewed sources from the past 10 years.

Submission: Please submit online along with the poster file by the specified due date in week 7, on Monday 1st September 2025 by 9:00 AM
Level of Gen AI allowed: Level 2 Planning: You may use Al for planning, idea development, and research. Your final
submission should show how you have developed and refined these ideas.


Assessment Due Date

Week 7 Monday (1 Sept 2025) 9:00 am AEST

Online submission via the subject Moodle site


Return Date to Students

Week 9 Monday (15 Sept 2025)

Two weeks after submission -online


Weighting
20%

Assessment Criteria

Your scientific poster will be assessed on the accuracy and clarity of the content, including a clear explanation of the principle of the diagnostic technique, its clinical applications, and relevant examples. You should use recent scientific literature (preferably published within the last 10 years) and include a balanced discussion of the advantages and limitations of the technique. The poster should be visually well-organized, with clear headings, concise text, and relevant images or diagrams to support understanding. Marks will also be awarded for clear communication, originality.


Referencing Style

Submission
Online

Learning Outcomes Assessed
  • Critically discuss how gene mutations or rearrangements underpin the molecular aetiology of particular diseases
  • Explain the process of identifying genetic modifications and their clinical significance
  • Explain the use of molecular pathology in disease diagnosis, prevention and treatment, including the development of personalised medicines.

2 Written Assessment

Assessment Title
Molecular testing design

Task Description

Molecular testing, using genetic amplification, for disease detection has become commonplace in most pathology workplaces. Tests that used to take days can now be done in an hour or 2, making turn-around times shorter and clinical decision making easier. Understanding how and why these tests are done is vital for a Medical Laboratory Scientist.

For this assessment you will be given a range of scenarios with different diseases and will be asked to design a molecular experiment to determine the status of the disease in a specific patient. Working in pairs you will research the disease and determine a specific genetic target to be tested. You and your student partner will then design a genetic amplification-based experiment, including describing specific primer sets, amplification conditions, reagents and equipment needed. Individually, you will then outline what you expect to see in terms of results and interpret what this means for the patient. There are 5 tasks associated with this assessment and are divided as follows

GROUP TASKS

  • 1. Introduction to the Genetic Disorder
  • 2. ARMS-PCR Principle.
  • 3. Primer Design and PCR Setup.

INDIVIDUAL TASKS

  • 4. Patient Result Interpretation.
  • 5. Parental Testing Outcome.

Level of Gen AI allowed:  Level 2: You may use Al for planning, idea development, and research. Your final submission should show how you have developed and refined these ideas


Assessment Due Date

Week 10 Monday (22 Sept 2025) 9:00 pm AEST

online via subject Moodle site


Return Date to Students

Week 12 Friday (10 Oct 2025)

Via Subject Moodle site


Weighting
30%

Assessment Criteria

Assessment Criteria

You will be assessed on the following criteria:

  • Identification of the molecular etiology of the disease.
  • Appropriate design of molecular primers/probes to determine the presence or absence of disease.
  • Accurate description of the experimental conditions for the genetic amplification test.
  • Clear identification of the experimental outcomes.
  • Appropriate use of referencing of scientific literature.

A detailed marking rubric will be available on the Moodle site for this unit.


Referencing Style

Submission
Online Group

Learning Outcomes Assessed
  • Demonstrate skills in the use of genetic techniques in molecular pathology, including genetic amplification

3 Laboratory/Practical

Assessment Title
Laboratory/Practical

Task Description

The residential school assessment for LMED29001 Genomic Pathology 1  includes the completion and submission of a Laboratory Workbook, which must be submitted on the final day of the residential school. This assessment will be graded on a PASS/FAIL basis, requiring an overall mark of at least 50% to pass. The three-day program consists of engaging, case study-based laboratory practicals, designed to give you hands-on experience that mirrors real-world diagnostic pathology practice. To make the most of your time, enhance your understanding of the workbook tasks, and perform well in the 30-minute
invigilated final theory assessment, it is strongly recommended that you review the laboratory manual and workbook before attending the residential school.

Level of GenAI use allowed:
Level 1: You must not use Al at any point during the assessment. You must demonstrate your core skills and knowledge.

Please bring the following items with you to the residential school for  LMED29001 Genomic Pathology

1. A printed copy of the LMED29001 Laboratory Manual
2. A printed copy of the Student Laboratory Workbook
3. A permanent fine-tip marker in your favourite colour
4. Pens, pencils, and a scientific calculator (a smartphone app is acceptable)

Please note the 72 hours grace period does not apply for this task

 

 


Assessment Due Date

Please submit towards the end of the residential school period


Return Date to Students

Weighting
Pass/Fail

Assessment Criteria

You will be assessed on the following criteria:

  • completion of the experiments outlined in the laboratory manual
  • an understanding and adherence to the safety protocols dealing with blood handling
  • displaying sufficient understanding of the experimental techniques as assessed by answering workbook
    questions

Marks will be allocated within the Laboratory workbook for each section, and marking rubric will be available on the Moodle site for this unit.


Referencing Style

Submission
Offline

Learning Outcomes Assessed
  • Demonstrate skills in the use of genetic techniques in molecular pathology, including genetic amplification

Examination

Outline
Complete an invigilated examination

Date
During the examination period at a CQUniversity examination centre

Weighting
50%

Length
180 minutes

Minimum mark or grade
50

Exam Conditions
Restricted

Materials
Dictionary - non-electronic, concise, direct translation only (dictionary must not contain any notes or comments).
Academic Integrity Statement

As a CQUniversity student you are expected to act honestly in all aspects of your academic work.

Any assessable work undertaken or submitted for review or assessment must be your own work. Assessable work is any type of work you do to meet the assessment requirements in the unit, including draft work submitted for review and feedback and final work to be assessed.

When you use the ideas, words or data of others in your assessment, you must thoroughly and clearly acknowledge the source of this information by using the correct referencing style for your unit. Using others’ work without proper acknowledgement may be considered a form of intellectual dishonesty.

Participating honestly, respectfully, responsibly, and fairly in your university study ensures the CQUniversity qualification you earn will be valued as a true indication of your individual academic achievement and will continue to receive the respect and recognition it deserves.

As a student, you are responsible for reading and following CQUniversity’s policies, including the Student Academic Integrity Policy and Procedure. This policy sets out CQUniversity’s expectations of you to act with integrity, examples of academic integrity breaches to avoid, the processes used to address alleged breaches of academic integrity, and potential penalties.

What is a breach of academic integrity?

A breach of academic integrity includes but is not limited to plagiarism, self-plagiarism, collusion, cheating, contract cheating, and academic misconduct. The Student Academic Integrity Policy and Procedure defines what these terms mean and gives examples.

Why is academic integrity important?

A breach of academic integrity may result in one or more penalties, including suspension or even expulsion from the University. It can also have negative implications for student visas and future enrolment at CQUniversity or elsewhere. Students who engage in contract cheating also risk being blackmailed by contract cheating services.

Where can I get assistance?

For academic advice and guidance, the Academic Learning Centre (ALC) can support you in becoming confident in completing assessments with integrity and of high standard.

What can you do to act with integrity?