LQN101 Disease Pathogenesis
To view more information for this unit, select Unit Outline from the list below. Please note the teaching period for which the Unit Outline is relevant.
| Unit code: | LQN101 |
|---|---|
| Credit points: | 12 |
| Timetable | Details in HiQ, if available |
| Availabilities |
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| Domestic tuition unit fee | $4,044 |
| International unit fee | $5,556 |
Unit Outline: Semester 1 2026, Online
| Unit code: | LQN101 |
|---|---|
| Credit points: | 12 |
Overview
This foundational unit addresses the core concepts, mechanisms, and consequences of molecular and chromosomal aberrations. You will be given real world case studies including genetic diseases that impact Indigenous Australians such as Machado Joseph Disease (MJD) and the mitochondrial disorder MELAS. You will be given specific examples where racial stereotyping and lack of Indigenous genomic reference sequence has delayed diagnosis of a genetic disease. This is an introductory unit and the knowledge and skills developed in this unit are relevant to core diagnostic genomic units and electives.
Students are required to verify their identity in this unit by displaying their student identification card during the assessment 1 oral presentation.
Authentication of learning and verification of identity may be assessed by an online viva with the unit coordinator.
Learning Outcomes
On successful completion of this unit you will be able to:
- Critically evaluate the molecular pathogenesis underlying genetic disease in humans at the specialist level, including examples of genetic diseases that impact Indigenous Australians.
- Analyse molecular lesions in order to predict phenotype and identify management solutions for genomics diseases.
- Apply knowledge and understanding of phenotypes to help interpret, as well as compare and contrast, molecular test results.
- Formulate strategies for engaging in written and digital communication, drawing on critical analytical skills, in different professional settings.
- Critically examine the nature and scope of how human genetics relates to the field of diagnostic genomics, while valuing cultural safety and sensitivity.
Content
Different types of chromosomal aberrations with examples of diseases associated with each including:
- Aneuploidy: trisomy 13, 18, 21, Klinefelter syndrome and Turner syndrome.
- Structural rearrangements: balanced and unbalanced
- Loss of heterozygosity
- Imprinting
Relationship between genotype and phenotype:
- How position of the mutation may affect phenotype.
- How the nature of the mutation may affect phenotype
- Loss of function (LOF) mutations
- Haploinsufficiency
- Truncating and non-truncating mutations
- Gain of function (GOF) mutations (e.g. hypermorph, antimorph, neomorph) - How mutations outside of the coding region affect expression
- How variants in a single gene can result in different phenotypes (pleiotropy). Be familiar with FBN1 as an example.
- How the manifestation of some disorders requires mutations to occur in two (digenic) or more (oligogenic) genes.
The genotype/phenotype relationship for the following conditions:
- Osteogenesis imperfecta
- Haemoglobinopathies
Trinucleotide repeats, the categorisation of repeat ranges, the concept of anticipation and manner in which expansions can result in a LOF or GOF. Examples of diseases caused by both LOF and GOF mutations including an example of a disorder with high prevalence in an Australian Indigenous community.
Factors other than genotype which would modify phenotype.
Different classes/categories of metabolic disorders and a condition and aware of methods of diagnosing metabolic disorders and their strengths and limitations.
Categories of disorders which can arise due to cellular dysfunction, including enzyme function, signalling pathways, cell structure/filaments, vesicle transport, cell-cell communication, protein trafficking, DNA repair, cell cycle, ion channels, including examples of diseases from each category.
Learning Approaches
This unit will introduce you to the fundamental concepts of genetic disease pathogenesis. The online delivery is through Canvas. The unit is developed around the principles of adult learning, theory and practice and open learning approaches. This predominantly, asynchronous learning environment allows you to go through lectures, materials and exercises at your own pace.
In your first year of study, the Canvas site will provide you with resources including pre-recorded lectures, research papers, media articles and videos. Guidance will be provided, through regular communication via the Canvas site, to support meaningful appropriate self-paced study during the semester.
You will be encouraged to read widely and to think critically about the nature and scope of how disease pathogenesis relates to the field of diagnostic genomics.
Feedback on Learning and Assessment
The online webinars and discussion boards are the key places you can ask for and receive feedback on your understanding of course materials. Direct feedback on assessments will be given regarding your analytical skills, ability to identify resources, reasoning and ability to interpret and summarise your findings. Each assessment item will include individual feedback on your progress.
Assessment
Overview
There are two summative assessment items in LQN101.
Assessment 1 asks you to examine pathology results to compare and contrast how molecular lesions cause their respective phenotypes. This exercise asks you to undertake a review of both the cytogenetic, molecular and phenotypic literature. This will provide you with the opportunity to critically appraise the literature, and interpret your findings in the context of previously reported cases.
Assessment 2 is a portfolio based on problem solving tasks and case studies relevant to each week's learning.
Unit Grading Scheme
7- point scale
Assessment Tasks
Assessment: Report
You are asked to take on the role of a laboratory scientist. You will receive authentic genetic test results, similar to those commonly encountered in the workplace. Drawing on industry-relevant digital practices and technologies, you will examine the clinical features of the condition/s.
Your role is to evaluate the findings and prepare and present a clinical memo addressed to a multidisciplinary team at a clinical review meeting.
Your final submission will include the full written report and short 3-minute oral presentation to the teaching team. You will be required to state your name and show your student card at the start of the presentation.
You will be required to schedule a time for your presentation with the teaching team.
The ethical and responsible use of generative artificial intelligence (GenAI) tools is authorised in this assessment. See the relevant assessment details in Canvas for specific guidelines.
Assessment: Portfolio
Assessment 2 is a portfolio based on problem solving tasks and case studies. Engaging with the online modules during the semester will assist you in completing the portfolio. At the end of each week, you will be presented with a case study or problem-solving task that is relevant to the weeks learning. You will complete the task and include in your portfolio submission. Completing the portfolio will ensure that you acquire coherent knowledge of the essential elements of disease pathogenesis, applicable in both laboratory and clinical settings.
You will use QUT supported AI platforms as a tool to support your learning by analysing data, generating hypotheses, and summarising research. By working with AI in these ways, you’ll strengthen your critical thinking and real-world problem-solving skills, learning to evaluate, interpret, and refine AI-generated information. This approach will help you see AI as a collaborator, while you apply your own insight and ethical judgment to interpret complex, genetic case studies.
This assignment is eligible for the 48-hour late submission period and assignment extensions.
The ethical and responsible use of generative artificial intelligence (GenAI) tools is authorised in this assessment. See the relevant assessment details in Canvas for specific guidelines.
Academic Integrity
Academic integrity is a commitment to undertaking academic work and assessment in a manner that is ethical, fair, honest, respectful and accountable.
The Academic Integrity Policy sets out the range of conduct that can be a failure to maintain the standards of academic integrity. This includes, cheating in exams, plagiarism, self-plagiarism, collusion and contract cheating. It also includes providing fraudulent or altered documentation in support of an academic concession application, for example an assignment extension or a deferred exam.
You are encouraged to make use of QUT’s learning support services, resources and tools to assure the academic integrity of your assessment. This includes the use of text matching software that may be available to assist with self-assessing your academic integrity as part of the assessment submission process.
Breaching QUT’s Academic Integrity Policy or engaging in conduct that may defeat or compromise the purpose of assessment can lead to a finding of student misconduct (Code of Conduct – Student) and result in the imposition of penalties under the Management of Student Misconduct Policy, ranging from a grade reduction to exclusion from QUT.
Resources
In addition to online lecture notes, a selection of online textbooks, journal articles, and internet resources will be made available each week through QUT library.
Risk Assessment Statement
There are no out of the ordinary risks associated with this unit.
Course Learning Outcomes
This unit is designed to support your development of the following course/study area learning outcomes.LS60 Graduate Certificate in Diagnostic Genomics
- Apply scientific knowledge and skills, focused on current genomic trends in practice and research, utilising digital capabilities.
Relates to: ULO1, ULO3, Report, Portfolio - Critically evaluate scientific findings and locate solutions to solve complex genomics problems, employing high order cognitive skills, clinical reasoning, and reflective practice.
Relates to: ULO2, ULO3, Report, Portfolio - Develop and apply professional oral and written communication skills that inform effective collaboration and digital interactions with colleagues and other stakeholders across the medical and scientific contexts.
Relates to: ULO4, Report - Practise within a framework of personal accountability, collegiality and ethical judgment, while valuing cultural safety and sensitivity in professional practice, clinical decision-making and research.
Relates to: ULO1, ULO4, ULO5, Report, Portfolio
LS72 Graduate Diploma in Diagnostic Genomics
- Apply scientific knowledge and skills, focused on current genomic trends in practice and research, utilising digital capabilities.
Relates to: ULO1, ULO3, Report, Portfolio - Critically evaluate scientific findings and locate solutions to solve complex genomics problems, employing high order cognitive skills, clinical reasoning, and reflective practice.
Relates to: ULO2, ULO3, Report, Portfolio - Develop and apply professional oral and written communication skills that inform effective collaboration and digital interactions with colleagues and other stakeholders across the medical and scientific contexts.
Relates to: ULO4, Report - Practise within a framework of personal accountability, collegiality and ethical judgment, while valuing cultural safety and sensitivity in professional practice, clinical decision-making and research.
Relates to: ULO1, ULO4, ULO5, Report, Portfolio
LS81 Master of Diagnostic Genomics
- Apply scientific knowledge and skills, focused on current genomic trends in practice and research, utilising digital capabilities.
Relates to: ULO1, ULO3, Report - Critically evaluate scientific findings and locate solutions to solve complex genomics problems, employing high order cognitive skills, clinical reasoning, and reflective practice.
Relates to: ULO2, ULO3, Report, Portfolio - Develop and apply professional oral and written communication skills that inform effective collaboration and digital interactions with colleagues and other stakeholders across the medical and scientific contexts.
Relates to: ULO4, Report - Practise within a framework of personal accountability, collegiality and ethical judgement, drawing upon Indigenous perspectives, cultural safety and sensitivity in professional practice, clinical decision-making and research.
Relates to: ULO1, ULO4, ULO5, Report, Portfolio - Plan and execute a substantial academic activity in the field of diagnostic genomics to address a specific research question.
Relates to: ULO4