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 |
|---|---|
| Equivalent(s): | LQZ101 |
| Credit points: | 12 |
| Timetable | Details in HiQ, if available |
| Availabilities |
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| Domestic tuition unit fee | $3,468 |
| International unit fee | $4,764 |
Unit Outline: Semester 1 2024, Online
| Unit code: | LQN101 |
|---|---|
| Credit points: | 12 |
| Equivalent: | LQZ101 |
Overview
Genomic scientists and clinicians working in genomics need to understand aberrations at a chromosomal and molecular level, in addition to the consequences of such aberrations, particularly as they pertain to disorders commonly seen in genetic clinics and laboratories. Clinicians and scientists need to be knowledgeable about genomic disease mechanisms in order to work in the field.
Learning Outcomes
On successful completion of this unit you will be able to:
- Describe the molecular pathogenesis underlying genetic disease in humans.
- Analyse molecular lesions in order to predict phenotype.
- Apply knowledge of phenotypes to help interpret molecular test results.
- Demonstrate professional written communication and critical analytical skills.
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 affects phenotype:
- How position of the mutation may affect phenotype e.g. domain or amino acid.
- 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 is a single gene can result in different phenotypes (pleitrophy). Be familiar with FBN1 as an example.
- How the manifestation of some disorders requires mutations to occur in two (digenic) or more (oligogenic) genes. Be familiar with Bardet-Biedl as an example.
The genotype/phenotype relationships 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.
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 is designed to introduce you to the core 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 guidelines. 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. You will also be able to access online meetings, interactive exercises and online message boards. There will be at least one webinar or video-conferencing in which a concept is explained, and you will be expected to solve a problem or discuss approaches to a case during the virtual class. Canvas discussion board, Padlet and Zoom virtual classrooms will be used to collaborate and discuss activities and cases.
Canvas will facilitate your ongoing conversations with other students and with academic staff. Guidance will be provided, through regular communication via the Canvas site, to help with appropriate self-paced study during the semester. You will be expected to post questions pertaining to the unit on message boards.
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 on your understanding of course materials. Discussion boards and weekly interactive activities provide the opportunity to receive peer feedback. Feedback on assessment will be given regarding your analytical skills, ability to identify resources, reasoning and ability to interpret and summarise your findings. Assessment 2 feedback will be by way of a mark which reflects your theoretical knowledge. Each assessment item will include individual feedback on your progress as stated above and feedback will be offered to the group through the Announcements page on the Backboard site.
Assessment
Overview
There are two summative assessment items in LQN101.
Assessment 1 asks you to examine two pathology results to compare and contrast how these two 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 increase your knowledge of cytogenetic and monogenetic disease, critically appraise the literature, and interpret your findings in the context of previously reported cases.
Assessment 2 is a theory examination consisting of multiple choice, short answer and long answer questions covering the semester's content, administered online.
Unit Grading Scheme
7- point scale
Assessment Tasks
Assessment: Essay
You will be provided with two authentic genetic test results as may be encountered in the workplace. You will undertake a literature review in order to describe the clinical features of the two conditions and to compare and contrast how the two different examples result in their respective phenotypes.
Assessment task will be summative, graded on 1-7 scale.
This is an assignment for the purposes of an extension.
Assessment: Examination
This written examination will consist of multiple-choice, short answer and long answer questions. It is designed to ensure that you have a coherent knowledge of the essential elements of disease pathogenesis which is required on a daily basis in both laboratory and clinical settings.
Academic Integrity
Students are expected to engage in learning and assessment at QUT with honesty, transparency and fairness. Maintaining academic integrity means upholding these principles and demonstrating valuable professional capabilities based on ethical foundations.
Failure to maintain academic integrity can take many forms. It includes cheating in examinations, plagiarism, self-plagiarism, collusion, and submitting an assessment item completed by another person (e.g. contract cheating). It can also include providing your assessment to another entity, such as to a person or website.
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.
Further details of QUT’s approach to academic integrity are outlined in the Academic integrity policy and the Student Code of Conduct. Breaching QUT’s Academic integrity policy is regarded as student misconduct and can lead to the imposition of penalties 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.