Unit rationale, description and aim
Recent advances in the discipline of genetics are increasingly being incorporated into healthcare applications and treatment/management considerations with the promise of producing significant improvements for individualised healthcare, especially within the field of precision-medicine. This unit builds upon the fundamental principles of genetics covered in previous units to expand students’ knowledge and understanding of core concepts within human genetics, such as genetic variation, mutation, and inheritance. Students then progress to more advanced concepts, including how environmental factors influence gene expression and phenotype through gene-environment interactions, and how gene expression is regulated through pre- and post-transcriptional mechanisms such as epigenetic modification, post-transcriptional RNA processing and modifications. Students will have the opportunity to apply these concepts in biomedical research and healthcare contexts. Students will be exposed to practical aspects of genetics where they will familiarise themselves with modern analytical techniques and methodologies using hands-on and simulation-based activities. The aim of this unit is to provide learners with genetics-related knowledge that enables them to understand and apply recent advances in their chosen field within biomedicine.
Campus offering
No unit offerings are currently available for this unit.Learning outcomes
To successfully complete this unit you will be able to demonstrate you have achieved the learning outcomes (LO) detailed in the below table.
Each outcome is informed by a number of graduate capabilities (GC) to ensure your work in this, and every unit, is part of a larger goal of graduating from ACU with the attributes of insight, empathy, imagination and impact.
Explore the graduate capabilities.
Explain fundamental concepts and principles of hum...
Learning Outcome 01
Explain how current genetic-related laboratory and...
Learning Outcome 02
Analyse genetic and genomic data using current lab...
Learning Outcome 03
Evaluate both literature and data to develop robus...
Learning Outcome 04
Content
Topics will include:
- Nature and cause of genetic variation in humans
- Patterns of inheritance & genetic traits
- Population genetics
- Gene & environment interactions
- Pre- and post-translational genetic modification
- Research & diagnostic techniques and methodologies
- Analysis and interpretation of genetics and genomics data
- Genetics of cancer
- Behavioural genetics in health and disease
- Forensics and nutrigenomics
Assessment strategy and rationale
A range of assessment procedures is used to meet the unit learning outcomes and develop graduate attributes consistent with University assessment requirements. The assessment tasks for this unit are designed to allow students to demonstrate achievement of each learning outcome.
Assessment task 1 Quiz
This task will assess fundamental concepts and principles of human genetics and genomics including their relevance to health and disease.
Assessment task 2 Written assignment
This assessment provides an opportunity for students to demonstrate understanding and application of genetic topics and develop high-level skills related to information literacy, critical thinking, and written communication.
Assessment task 3 Final examination
The unit concludes with an on-campus end-of-semester examination, which assesses students’ ability to integrate and apply the key concepts explored throughout the semester. This task evaluates cumulative understanding and overall mastery of the unit content.
In order to pass this unit, students are required to achieve a final grade of 50% or more to demonstrate achievement of all learning outcomes.
Overview of assessments
Assessment Task 1 : This task will assess fundame...
Assessment Task 1: This task will assess fundamental concepts and principles of human genetics and genomics.
30%
Assessment Task 2: The written task assesses bot...
Assessment Task 2: The written task assesses both understanding and application of the concepts covered within the unit and provides students an opportunity to demonstrate high-level skills related to information literacy, critical thinking, and written communication.
30%
Assessment Task 3 : The end-of-semester examinati...
Assessment Task 3: The end-of-semester examination assesses students’ ability to integrate and apply the key concepts explored throughout the semester.
40%
Learning and teaching strategy and rationale
This unit is designed around active learning, encouraging students to not only understand the principle of genetics and genomics, but to apply this knowledge to real-world applications. Students will be provided with multiple opportunities to participate in their learning during weekly lectures, with space provided for questions, group discussions, and class-based activities. Case studies will be used to illustrate common research problems to promote higher-order thinking.
Weekly practical classes will further support student learning by providing regular opportunities to develop laboratory-based techniques and skills that are essential for work within the field. In addition to these laboratory skills, students will learn how to use genetic databases, handle, analyse and interpret genetic and genomics data, and apply these skills in authentic scenario-based activities to solve problems based on genetic variations. Each learning activity is scaffolded to help build students' confidence throughout the unit, culminating in their final assessment task.
Representative texts and references
Brandes, N., Weissbrod, O. & Linial, M. (2022). Open problems in human trait genetics. Genome Biology, 23, Article 131.
Cavalli, G., & Heard, E. (2019). Advances in epigenetics link genetics to the environment and disease. Nature, 571, 489–499.
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T. et al. (2023). 15 years of GWAS discovery: Realizing the promise. American Journal of Human Genetics, 110(2), 179–194.
Cohn, R., Scherer, S. & Hamosh, A. (2023). Thompson & Thompson Genetics and Genomics in Medicine. (9th ed). Elsevier.
Cummings, M. R. (2016). Human Heredity. Principles and Issues. (11th ed.). Brookes/Cole. CENGAGE Learning.
Jackson, M., Marks, L., May, G. H. W. & Wilson, J. B. (2018). The genetic basis of disease. Essays in biochemistry 62(5). 643-723
Nussbaum, R.L. McInnes, R.R. & Willard, H.F. (2016). Thompson and Thompson Genetics in Medicine. (8th Ed) Elsevier.
Olson, N. D., Wagner, J., Dwarshuis, N., Miga, K. H. et al. (2023). Variant calling and benchmarking in an era of complete human genome sequences. Nature Reviews Genetics, 24, 464–483.
Rheinbay, E., Nielsen, M. M., Abascal, F. et al. (2020). Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. Nature ,578, 102–111.
Tobias, E.S. Connor, J.M. and Ferguson-Smith, M.A. (2011) Essential Medical Genetics.(6th ed.) John Wiley and Sons.
Watson, J., Baker, T., Bell, S., Gann, A., Levine, M. & Losick, R. (2014). Molecular Biology of the Gene. Pearson: New York.