LQN100 Human Genetics

Unit Outline: Semester 1 2024, Online

Overview

Genomic scientists and clinicians working in genomics need to understand the fundamentals of human genetics in order to evaluate clinical cases and communicate with their colleagues. Scientists need to be comfortable, competent and confident with analysing a pedigree and researching what is known about the clinical and molecular aspects of a given condition. Clinicians who are requesting and/or interpreting genetic test results need to be familiar with these concepts to communicate with and care for patients.

Learning Outcomes

On successful completion of this unit you will be able to:

1. Describe the biology of human genes and chromosomes.
2. Analyse genetic diseases presenting in humans.
3. Apply genetic information to the principles of recurrence risk and genetic counselling.
4. Generate reports outlining the clinical and molecular basis of genetic disease in humans.

Content

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 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 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 unit materials. In assessment 1, you will be given feedback on your understanding of pedigree construction and recurrence risk. Assessment 2 feedback will be on your case study regarding your analytical skills, ability to identify resources, reasoning, and ability to interpret and summarise your findings. Assessment 3 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 three summative assessment items in LQN100. Assessment 1 is a problem-solving task in which you are presented with a clinical disorder and you must construct a hypothetical pedigree demonstrating aspects of the disease with an accompanying literature review. 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. Assessment 3 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: Problem Solving Task

This authentic assessment will present you with a specific genetic condition. You will be asked to construct a hypothetical pedigree consistent with the inheritance of the disease and fully explain the genotype and phenotype of each individual, including models that explain the relationship between the two in the pedigree you have designed. You will review the literature on the disorder and relate this information back to the case provided.

This is an assignment for the purposes of an extension.

Relates to learning outcomes
2 and 3.

Assessment: Case Study

This authentic assessment will present you with a case study in the form of a pedigree with 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.

This is an assignment for the purposes of an extension.

Relates to learning outcomes
2 and 4.

Assessment: Examination

This written examination will consist of multiple choice, short answer and long answer questions. It is aimed to ensure that you have a coherent knowledge of the essential elements of human genetics which is required on a daily basis in both laboratory and clinical settings.

Relates to learning outcomes
1.

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

Risk Assessment Statement

There are no out of the ordinary risks associated with this unit.