LQB280 Genes, Genomes and Genetics


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Unit Outline: Semester 2 2025, Gardens Point, Internal

Unit code:LQB280
Credit points:12
Pre-requisite:LQB182 or LQB186
Coordinator:Daniel Wallace | d5.wallace@qut.edu.au
Disclaimer - Offer of some units is subject to viability, and information in these Unit Outlines is subject to change prior to commencement of the teaching period.

Overview

Molecular genetics underpins the diagnostics and treatment of many inherited and acquired diseases. Central to the approaches currently being applied to understand complex life processes is the ability to interrogate and interpret the molecular genetic information stored in DNA, RNA or protein (i.e., bioinformatics and genomics). Such information not only underpins our identification and understanding of the particular disease state but also points to potential options for treatment. Higher-level studies in the life sciences, and specifically the health-related sciences, require an understanding of these basic theoretical and practical concepts and approaches to interrogating the genomes of humans and other organisms.

Learning Outcomes

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

  1. Demonstrate an understanding of the genome and gene structure-function relationships in organisms important to human health and disease.
  2. Demonstrate practical and critical thinking skills to analyse and interpret scientific data from biomolecule sequence information and the results you derive from laboratory-based experiments.
  3. Apply knowledge of gene and genome structure-function relationships to critically interrogate DNA sequence information relating to the cause and diagnosis of inherited and acquired human disease.
  4. Communicate an understanding of the basic concepts and approaches to characterising genes and genomes.

Content

The content of this unit includes:

  • Gene and genome composition encompassing structure/function relationships.
  • Mutation and its role in generating genetic diversity and in contributing to disease phenotypes.
  • Deciphering the genetic information stored in DNA, RNA and protein.
  • Gene targeting using polymerase chain reaction (PCR).
  • An introduction to DNA sequencing.
  • The application of DNA interrogation technologies to the diagnosis of inherited and acquired human diseases.

Learning Approaches

The unit consists of online learning resources each week complemented by interactive workshops and 3 hour laboratory sessions. Lectures, tutorials and practicals will be used to populate a framework of interactive and blended problem-based learning activities that promote multidisciplinary-based systems thinking and development of specific knowledge and skills relevant to the aims of the unit.

Feedback on Learning and Assessment

You will receive formative feedback on continuous assessment items throughout the semester that will provide a measure of your progression through the unit. Items will normally be returned in a timely manner to facilitate positive learning progression. This formative assessment will be provided during interactive workshop and practical sessions.

Assessment

Overview

All assessment contributes to your final mark and grade. Assessment serves to provide a learning environment that positively reinforces the building of knowledge, understanding and skilled practical application. Assessment tasks in the laboratory take the form of bioinformatics-based learning activities and laboratory-based experiments and their interpretation. A final theory exam draws on theoretical and practical concepts discussed during lectures, tutorials and practicals and is assessed using multiple choice and short answer questions.

Unit Grading Scheme

7- point scale

Assessment Tasks

Assessment: Bioinformatics Exercises

You will complete a portfolio consisting of four bioinformatics-based learning activities, that simulate real world clinical and research related tasks undertaken by bioinformaticians and those employed in molecular genetics related occupations, that integrate the molecular genetic and bioinformatic approaches developed in this unit. The activities will include exercises to explore and test your understanding of gene structure and function, genetic variation and its relationship to disease, the application of molecular techniques to the diagnosis of genetic disease and the study of genetic variation at the population level.

This assignment is eligible for the 48-hour late submission period and assignment extensions.

Weight: 30
Length: 2 hours per bioinformatics-based task
Individual/Group: Individual
Due (indicative): Weeks 3, 4, 6 and 13
Related Unit learning outcomes: 1, 2

Assessment: Laboratory/Practical

You will participate in five laboratory-based practical sessions that simulate real world clinical and research laboratories. You will learn to plan and carry out laboratory-based experiments commonly used in molecular biology laboratories, and to appropriately record, analyse and interpret the results. Participation in the practicals will be necessary for completion of this assessment. You will be assessed on your participation in the five laboratory-based practical sessions by showing evidence of completion of experimental work (10%). Your understanding of the practical procedures, the experimental results and your interpretation of the results will be assessed via an in-class practical exam (20%).

Weight: 30
Length: 5 x 2-hour practical sessions and a 60-minute practical exam.
Individual/Group: Individual
Due (indicative): Participation in Laboratory Practicals 1 to 5. In-class practical exam in Week 11.
Related Unit learning outcomes: 2, 3

Assessment: Final Theory Exam

A final theory exam will test your understanding of the theoretical and practical concepts discussed during lectures, tutorials and practicals. The exam will comprise multiple choice and short essay questions.

Weight: 40
Individual/Group: Individual
Due (indicative): During central examination period
Central exam duration: 2:40 - Including 10 minute perusal
Related Unit learning outcomes: 1, 4

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.

Requirements to Study

Requirements

Practicals will require personal protective equipment supplied by each student:
1. Laboratory Gown - Rear fastening 100% cotton or polyester/cotton mix
2. Safety eye protection glasses - selected and used in accordance with Australian Safety Standards
3. Fully enclosed non-slip shoes

Costs

Cost of obtaining lab gown and safety glasses is the responsibility of the student.

Resources

Resource Materials

Safety and protective equipment

Practicals will require personal protective equipment supplied by each student:
1. Laboratory Gown - Rear fastening 100% cotton or polyester/cotton mix
2. Safety eye protection glasses - selected and used in accordance with Australian Safety Standards
3. Fully enclosed non-slip shoes

Other

Resource materials will draw widely from material available though the internet and the unit Canvas site. An additional series of texts or articles may be recommended as topics and interactive discussions evolve.

Risk Assessment Statement

This unit includes a laboratory component. In order that you become proficient in necessary practical skills, you will be trained in the handling of equipment, materials and specimens normally associated with this discipline. You are required to view a Health & Safety Induction video and complete an online health and safety quiz prior to being permitted into the laboratory, to access please follow this link Health & Safety Induction. A passing score of 10/10 is required and will be checked prior to entry to the first laboratory session. You may repeat the quiz until this score is achieved. You are also referred to the Faculty of Health’s Health & Safety Web Site for further information.

If you have an underlying health condition you are encouraged to consult the lecturer in charge of the unit, as you may be required to take additional precautions on occasions.

Course Learning Outcomes

This unit is designed to support your development of the following course/study area learning outcomes.

LS40 Bachelor of Biomedical Science

  1. Critically review, analyse and synthesise foundational knowledge in a broad range of biomedical discipline areas and in depth theoretical, technical and practical knowledge in specialised discipline areas.
    Relates to: Bioinformatics Exercises, Laboratory/Practical, Final Theory Exam
  2. Demonstrate the technical skills required to solve multi-disciplinary problems in biomedical research, industry and clinical settings and do so in an ethical, safe and responsible manner.
    Relates to: Bioinformatics Exercises, Laboratory/Practical
  3. Demonstrate the cognitive skills required to find solutions to scientific problems.
    Relates to: Bioinformatics Exercises, Laboratory/Practical, Final Theory Exam

LS47 Bachelor of Medical Laboratory Science

  1. Discipline Knowledge
    Relates to: ULO1, Bioinformatics Exercises, Laboratory/Practical, Final Theory Exam
  2. Professional (including OHS and QA) Knowledge
    Relates to: Laboratory/Practical, Final Theory Exam
  3. Technical proficiency
    Relates to: ULO2, Laboratory/Practical
  4. Interpretation and application of protocols
    Relates to: Laboratory/Practical
  5. Analysis and interpretation of data
    Relates to: ULO3, Bioinformatics Exercises, Laboratory/Practical, Final Theory Exam
  6. Synthesis, judgement, and explanation
    Relates to: Bioinformatics Exercises, Laboratory/Practical, Final Theory Exam
  7. Scientific communication skills including information literacy and numeracy
    Relates to: ULO4, Bioinformatics Exercises

LV41 Bachelor of Biomedical Science

  1. Critically review, analyse and synthesise foundational knowledge in a broad range of biomedical discipline areas and in depth theoretical, technical and practical knowledge in specialised discipline areas.
    Relates to: Bioinformatics Exercises, Laboratory/Practical, Final Theory Exam
  2. Demonstrate the technical skills required to solve multi-disciplinary problems in biomedical research, industry and clinical settings and do so in an ethical, safe and responsible manner.
    Relates to: Bioinformatics Exercises, Laboratory/Practical
  3. Demonstrate the cognitive skills required to find solutions to scientific problems.
    Relates to: Bioinformatics Exercises, Laboratory/Practical, Final Theory Exam