Medical genetics will provide you with an overview of the role of genetic factors in human health and disease. Rapid advancements in technology, including human genome sequencing, are allowing genetics to play an increasingly important role in medicine. Medical genetics uses inquiry-based learning in laboratory and tutorial classes to explain concepts such as: personalised medicine, the genetics of cancer, epigenetics, immunogenetics, human microbiome, reproductive genetics, genetic counselling and ethics, and common molecular and cytogenetic diagnostic techniques.
|Tutorial/Workshop 1 – Weekly workshop delivered on campus designed to engage with content presented in the learning materials.||1hr||Week 1||13 times|
|Learning materials – Asynchronous e-modules||2hrs||Week 1||13 times|
|Tutorial/Workshop 2 – Tutorials will be delivered fortnightly in odd weeks, students have the option to attend either in-class or online.||1hr||Week 1||7 times|
|Laboratory 1 – Laboratory classes will be delivered fortnightly in even weeks.||3hrs||Week 2||6 times|
200 Level (Developing)
|Course Learning Outcomes On successful completion of this course, you should be able to...||Graduate Qualities Completing these tasks successfully will contribute to you becoming...|
|1||Describe and explain the concepts and principles behind the genetic regulation of health and disease and how our understanding of these processes can lead to improved health outcomes for individuals and communities.||Knowledgeable|
|2||Collect, accurately record, interpret and draw conclusions from scientific data.||Empowered|
|3||Describe and critically analyse ethical issues associated with genetic research, counselling and diagnostics.||Ethical|
|4||Gather, synthesise and critically evaluate information from a range of sources.||Empowered|
Refer to the UniSC Glossary of terms for definitions of “pre-requisites, co-requisites and anti-requisites”.
LFS100 or LFS103
It is recommended that students have some prerequisite knowledge of basic cell biology, and research methods
Standard Grading (GRD)
|High Distinction (HD), Distinction (DN), Credit (CR), Pass (PS), Fail (FL).|
You will receive both formative and summative feedback on assessment items that are designed to allow you to apply your medical genetics knowledge in both written and practical contexts. BIM202 will include early formative feedback with the completion of weekly learning materials, tutorial and laboratory class activities. A quiz in Week 3 will be the first summative low stakes assessment item.
|Delivery mode||Task No.||Assessment Product||Individual or Group||Weighting %||What is the duration / length?||When should I submit?||Where should I submit it?|
|Throughout teaching period (refer to Format)||Online Test (Quiz)|
|All||2||Literature Review (or component)||Individual or Group||30%||
|Week 9||Online Assignment Submission with plagiarism check|
|All||3||Examination - Centrally Scheduled||Individual||40%||
|Exam Period||Online Test (Quiz)|
|All - Assessment Task 1:Tutorial and practical portfolio|
You will actively engage in and demonstrate learning of the theoretical and practical concepts of medical genetics that have been delivered in the learning materials, tutorial and laboratory classes.
Three quizzes delivered during the practical class session, based on the theoretical and practical concepts covered in learning materials, tutorials and laboratory classes. The quizzes are to be completed individually in Weeks 4, 8 and 12. The quizzes may consist of multiple-choice questions and written responses to short answer style questions.
|All - Assessment Task 2:Medical Genetics assignment|
You will explore and develop an understanding of the concepts associated with medical genetics, and will gain skills in the review and critical analysis of relevant literature, and the communication of information to a broader audience. If you opt to work in a group you will also gain skills in team work.
|Product:||Literature Review (or component)|
You will work as either an individual or in a group to review scientific literature and produce a 700-word written assignment, with the incorporation of appropriate diagrams, to describe the molecular mechanisms associated with a genetic disorder. Detailed instructions along with other resources will be available on Canvas. The assignment with in-text references and reference list will be submitted to Turnitin (text matching software for plagiarism checking) in Week 9.
|All - Assessment Task 3:End of semester examination|
Task 3 will assess your understanding of and ability to apply theoretical knowledge of the concepts relevant to medical genetics.
|Product:||Examination - Centrally Scheduled|
An individual, two-hour final examination, consisting of multiple choice and short answer style questions.
A 12-unit course will have total of 150 learning hours which will include directed study hours (including online if required), self-directed learning and completion of assessable tasks. Student workload is calculated at 12.5 learning hours per one unit.
Please note: Course information, including specific information of recommended readings, learning activities, resources, weekly readings, etc. are available on the course Canvas site– Please log in as soon as possible.
Please note that you need to have regular access to the resource(s) listed below. Resources may be required or recommended.
|Required||Peter D Turnpenny,Sian Ellard,Ruth Cleaver||2021||Emery's Elements of Medical Genetics and Genomics||16th Edition||Elsevier|
Laboratory coat, safety glasses, covered shoes and the BIM202 laboratory manual are required for practical classes.
Academic integrity is the ethical standard of university participation. It ensures that students graduate as a result of proving they are competent in their discipline. This is integral in maintaining the value of academic qualifications. Each industry has expectations and standards of the skills and knowledge within that discipline and these are reflected in assessment.
Academic integrity means that you do not engage in any activity that is considered to be academic fraud; including plagiarism, collusion or outsourcing any part of any assessment item to any other person. You are expected to be honest and ethical by completing all work yourself and indicating in your work which ideas and information were developed by you and which were taken from others. You cannot provide your assessment work to others. You are also expected to provide evidence of wide and critical reading, usually by using appropriate academic references.
In order to minimise incidents of academic fraud, this course may require that some of its assessment tasks, when submitted to Canvas, are electronically checked through Turnitin. This software allows for text comparisons to be made between your submitted assessment item and all other work to which Turnitin has access.
Eligibility for Supplementary Assessment Your eligibility for supplementary assessment in a course is dependent of the following conditions applying: The final mark is in the percentage range 47% to 49.4% The course is graded using the Standard Grading scale You have not failed an assessment task in the course due to academic misconduct
Late submission of assessment tasks may be penalised at the following maximum rate (the rates are cumulative): - 5% (of the assessment task's identified value) per day for the first two days from the date identified as the due date for the assessment task. - 10% (of the assessment task's identified value) for the third day - 20% (of the assessment task's identified value) for the fourth day and subsequent days up to and including seven days from the date identified as the due date for the assessment task. - A result of zero is awarded for an assessment task submitted after seven days from the date identified as the due date for the assessment task. Weekdays and weekends are included in the calculation of days late. To request an extension you must contact your course coordinator to negotiate an outcome.
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