LQN100 Human Genetics
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: | LQN100 |
|---|---|
| Credit points: | 12 |
| Timetable | Details in HiQ, if available |
| Availabilities |
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| Domestic tuition unit fee | $3,744 |
| International unit fee | $5,148 |
Unit Outline: Semester 1 2025, Online
| Unit code: | LQN100 |
|---|---|
| Credit points: | 12 |
Overview
This foundational unit addresses the fundamentals of human genetics in a clinical context. You will learn how to evaluate clinical genetics cases and communicate the genetic basis of pathology to colleagues. This unit enables you to become comfortable, competent and confident with analysing human pedigrees and researching the clinical and molecular aspects of condition present in the family tree. Clinicians who are requesting and/or interpreting genetic test results will become familiar with these concepts to communicate with colleagues and care for patients. The unit embeds teaching of academic skills including the use of genetic and library databases.
Learning Outcomes
On successful completion of this unit you will be able to:
- Examine the biology of human genes and chromosomes at a specialist level.
- Critically analyse genetic pathology presenting in humans, reflecting current trends in professional practice.
- Critique and apply genetic information to the principles of recurrence risk and genetic counselling.
- Generate professional standard reports outlining the clinical and molecular basis of genetic disease in humans.
- Explore diagnostic genomics professional practice and the ways in which practices are influenced by differing social and cultural perspectives, and the impacts of digital developments in genomics.
Content
- Human genomic nomenclature, standards, databases and literature searches;
- Common vocabulary including variant, polymorphism, genotype, phenotype, karyotype, allele;
- The organisation of the human genome;
- The structure of DNA, genes and chromosomes in the nucleus and mitochondria of human cells;
- Karyotype analysis
- The consequence of different types of gene mutations on RNA and/or protein production;
- Funding of diagnostic genomic testing in Australasia
- Construction and interpretation of pedigrees;
- Mendelian and non-Mendelian patterns of inheritance;
- Population, quantitative and statistical genetics;
- Variable penetrance, epistasis, polygenic inheritance and pleiotropy;
- Early human development from fertilisation to the fetal period.
Learning Approaches
This unit is designed to introduce you to the core concepts of human and medical genetics. The online delivery is through Canvas. The embedded support for learning is centred around the principles of adult learning, theory and practice and open learning guidelines. An aspect of this approach involves your own self-directed learning. This predominantly asynchronous learning environment allows you to go through lectures, materials and exercises at your own pace.
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.
In this introductory unit, you are expected to:
- Access online meetings, undertake interactive exercises, and use online message boards to interact with peers and teaching staff.
- Take advantage of ongoing online conversations with other students and with academic staff, which facilitate focused learning and interaction. You will be expected to demonstrate active engagement by posting questions and/or responding to queries on the discussion boards
- Engage with the webinar / video-conference which explores a concept. Students will be expected to solve a problem or discuss approaches to a case during the virtual class.
Digital skills such as interrogation of the literature and databases will be developed through embedded activities in Canvas, focused on industry-relevant digital practices and technologies. You will be encouraged to read widely and to think critically about the nature and scope of how diagnostic genetics 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 from your lecturer and peers on your understanding of unit materials. Formative feedback on problem solving and or case study activities will be provided before week 4. 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
Authentication of learning and verification of identity may be assessed by an online viva with the unit coordinator.
There are three summative assessment items in LQN100. Assessments 1 and 3 are a portfolio based on problem solving tasks and case studies relevant to each week's learning. The portfolio will consists of 2 parts (Part A and Part B). Assessment 1, will cover content from the first half of the semester and will be due mid semester. The Assessment 3 portfolio, includes content from the second half of the semester and will be due at the end of semester.
Assessment 2 is an interpretive case study which provides you with the opportunity to increase your knowledge about genetics by critically evaluating a pedigree affected by a specific condition, appraising the literature, and interpreting your findings in the context of previously published case reports.
Unit Grading Scheme
7- point scale
Assessment Tasks
Assessment: Portfolio Part A
Assessment 1 is a portfolio based on problem solving tasks and case studies and includes content from the first half of the semester. 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 week's learning. You will complete the task to include in your portfolio submission. Completing the portfolio will ensure that you acquire coherent knowledge and understanding of the essential elements of human genetics which is required on a daily basis, applicable in both laboratory and clinical settings.
This assignment is eligible for the 48-hour late submission period and assignment extensions.
Assessment: Case Study
In this authentic assessment, you will take on the role of a laboratory scientist who has been presented with a case study in the form of a pedigree featuring a specific genetic condition. You will be asked to analyse and interpret the pedigree and to research and critically evaluate the literature on the clinical and molecular basis of the disease. You will be asked to produce a research essay to help your supervisor author a results report.
This assignment is eligible for the 48-hour late submission period and assignment extensions.
Assessment: Portfolio Part B
Assessment 3 is a portfolio based on problem solving tasks and case studies and includes content from the second half of the semester. 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 week's learning. You will complete the task to include in your portfolio submission. Completing the portfolio will ensure that you acquire coherent knowledge and understanding of the essential elements of human genetics which is required on a daily basis, applicable in both laboratory and clinical settings.
This assignment is eligible for the 48-hour late submission period and assignment extensions.
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 article and internet resources will be made available each week through the 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, ULO4 - 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, ULO4 - 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: ULO2, ULO4, ULO5
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, ULO4 - 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, ULO4 - 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: ULO2, ULO4 - 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: ULO5
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, ULO4, Portfolio Part B - 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, ULO4, Portfolio Part A, Case Study - 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: ULO2, ULO4, Case Study - 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: ULO5