BMS211: Pathogenesis, Management and Molecular Genetics of Immune Disease - Medical Science Assignment Help

Assignment Task:

Task:

You will be required to write an investigative report on the immunopathology, management (prognostics/diagnostics and therapeutics) and molecular genetics, of a selected immune disease and associated gene. The aim of the assignment is to further develop your skills and in-depth knowledge of:

1) Researching clinically relevant information

2) Critically assessing the relevance and validity of information

3) Summarising and clearly communicating specialist scientific information

4) Examining diagnostic methods and approaches in a given disorder

5) Reviewing and revising your own work

6) Integrating your knowledge of immunology and molecular genetics, with diagnostic methods and approaches in immune disease Achieving this aim is consistent with

Learning Outcomes 3, 5 & 6 (UILG Page 5) and the Graduate Attributes of: communication, critical and creative thinking, interdisciplinarity, and in-depth knowledge of a field of study. Timeline for completion The assignment is due for online submission by Monday the 4th of October (11 pm). The assignment is worth 30% of your final mark (i.e. equivalent to ~45 hours of research and preparation), which is a substantial component of your final grade. You should prepare early and allow an appropriate amount of time for completion. Choosing an immune disease and structuring your report A list of well-described immune diseases and their associated causative or risk gene/s will be available for selection on the MyUnit page under the Assignment Section. When structuring your report, use the following major topic headings and consider the following suggested questions to address.

I) Provide a brief introduction of the epidemiology of your chosen disease (suggested 250 words)

• Who presents with disease? Males/Females? Age? Ethnicity? How many have it?

• When do they get it (early/late-onset)?

• What major environmental and clinical risk factors associate with risk? NB# Data specific to the Australian population would be encouraged.

II) Describe the molecular genetics of your chosen disease and gene. (suggested 350 words)

• What gene mutation(s) is associated with disease causation, or gene variation(s) associated with risk? Note: depending on your choice of topic, you may be dealing with either a causative gene mutation or a risk-associated gene variation.

• Where does this change(s) occur in the gene structure? Show a figure/diagram to highlight gene structure and this change.

• What direct or indirect effect does this mutation/variation have on the protein product of your gene?

III) Explain the current understanding of the immunopathology of the chosen disease. (suggested 350 words)

• What cellular and humoral immune responses are thought to drive the pathology of the disease?

• What role does your identified mutated gene/gene variant play in initiating and/or perpetuating these cellular and humoral immune responses?

• How does this relate to changes in protein expression/structure?

IV) Describe a molecular technique/approach (e.g. PCR, microarray, sequencing) that is used for disease identification based on your mutation/polymorphism, and how it is used for diagnosis/prognosis in the chosen disease. (suggested 300 words)

• Outline how this molecular method is used to confirm diagnosis of the chosen disease.

• How definitive is this method? Does it work on its own to accurately identify? Does it rule in or out the gene as a cause of disease?

• How does method/approach relate to the molecular genetics or immunopathology of the disease? Are they direct tests of the gene changes itself or surrogate measures of the mutation/SNP’s effects? NB# Ideally, keep this section focussed on a currently used method/approach for your disease.

V) Summarise a recent advance in the diagnosis/prognosis/therapy of the disease. (suggested 250 words)

• Choose a recent (<2 years old) primary research article that contains new data/findings of an original research reported by the authors/investigators themselves. Do not use a secondary source, for example, a review article, which summarises recent research studies.

• The primary research article should describe a new method/technique/strategy for diagnosing, predicting outcome or treating your disease.

• Provide a brief summary of how the technology advance works to improve the outcome of the disease and comment on the likelihood that the advance will be adopted for routine use.

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