The understanding of the role of genomic and epigenomic changes in the development of a number of diseases and disorders has increased rapidly. New techniques have allowed analysis of chromosomal rearrangements, gene sequences, methylation patterns, open chromatin features, and many more. This has allowed previously unknown mechanisms of disease and disorder development to be increasingly understood. In this assessment you will look in detail at how genomic and epigenomic alterations alter molecular and cellular function leading to dysfunction, by preparing a literature review. 

This Assessment has 2 Parts.

Part A

Review literature synopses provided by a large language model (LLM), critiquing the accuracy of information provided. 

Provide suggested modifications for improving the accuracy of returned literature from LLMs for the purpose of writing literature reviews. 

Part B 

You will choose a gene from a list provided. 

You will prepare a literature review on the genomic or epigenomic role of the chosen gene in the pathogenesis of a known disorder. To do this you will need to research the gene, providing a scientifically accurate summary of the gene and associated protein information (including location, gene features, regulatory elements, cell/tissue expression, protein product function and subcellular location etc.). You will then present and discuss the current body of knowledge (primary literature sources) regarding genetic or epigenetic changes that lead to the disease(s) or disorder(s) of your choice. 

Please refer to Moodle for detailed task information, marking rubric, and writing guidelines. A tutorial will be provided on this assessment. 

ARTIFICIAL INTELLIGENCE

Students are permitted to use Artificial Intelligence for this assessment in the following ways:

• developing literature search strategies
• compiling suitable literature sources and locating data
• guidance for structuring the application and proposal
• assistance in editing, improving clarity or quality

Use of Artificial Intelligence must be referenced in line with the Academic Learning Centre guidance. Your submission must include a declaration on how you have used this technology. 

You will be marked on the following criteria. 

Part A

Effective critique of the following:

1)      Publication details - Accuracy of the listed authors, title, journal details, etc.

2)      Suitability for a literature review (primary work, recent, relevant).

3)      Summary - Accuracy of the summary provided (by comparing the summary with the publication data).

Ability to provide suitable modifications to LLM prompt. 

Part B

Title: Accurate, specific title suitably indicating that the article is a review. 

Introduction: Accurate summary of gene and related protein information, significance of the disease/disorder being discussed, and clear outline of main points and objective of the review. 

Review: Effective review of current primary literature showing clear understand of molecular and cellular functions involved. Ability to collate information and analyse it within a scientific context. 

Discussion & Conclusions: Accurate summary of the key findings of the literature review, gaps and future directions where appropriate. 

References: Correct in-text citations, style and format, focus on primary sources. 

Grammar, style, accuracy: Spelling, grammar, style, accuracy, within word count. 

A detailed marking rubric and task sheet will be available on the Moodle site at the commencement of term. 

Students must attend and pass the residential school to pass the unit. Please see the timetable for dates and times. Register via MyCQU. 

During the residential school you will learn several essential molecular biology techniques, implementing them in a series of experiments including nucleic acid isolation, transformation, gene amplification, and genetic analysis. 

Students will be assessed on safe and competent operation in a molecular laboratory when completing these tasks. 

You will be assessed on the application of molecular biology techniques in a laboratory setting including: 

• safe operation in a laboratory
• correct use of PPE
• safe handling of biological samples
• correct management of laboratory waste
• sample handling (including contamination minimisation)
• generation and interpretation of results for experiments including nucleic acid isolation, transformation, gene amplification, and genetic analysis 

A full list of competencies will be included in the laboratory manual (available via the Moodle site). No late submissions are allowed for this assessment. 

During the residential school you will be required to perform experimental protocols involving, for example, transformation of bacteria with plasmid DNA, restriction endonuclease digestion of DNA and amplification of DNA using polymerase chain reaction (PCR). In your residential school you will be expected to complete a workbook and perform experimental calculations, report experimental results, answer questions about experimental procedures and interpret results. Clearly label the workbook with student name and student number. The laboratory workbook can be scanned, or completed digitally and the workbook can be uploaded onto the Moodle site. The workbook will be available in Moodle as a digital file.  

ARTIFICIAL INTELLIGENCE

Students are permitted to use Artificial Intelligence for this assessment in the following ways:

• developing ideas
• creating answer structures
• generating ideas for improving answer responses

NO EXCLUSIVELY AI GENERATED CONTENT IS ALLOWED IN THE FINAL SUBMISSION

Use of Artificial Intelligence must be referenced in line with the Academic Learning Centre guidance. You submission must include a declaration on how you have used this technology. 

Marks will be allocated based on the correctness of calculations, presentation of laboratory results, analysis of results, and correct answers to questions, demonstrating understanding and application of techniques.