Posted: September 13th, 2017

HNPCC syndrome

The student will produce a 1 x 1000 word essay of a ((( HNPCC syndrome )))) incorporating a relevant case study from the primary literature and produce a poster 1 x 600 which in some detail outlines the critical technique(s) utilised in the investigation/diagnosis of the disorder?

Essay:
Write a 1000 WORD ESSAY on the molecular basis of ONE OF the TOPICS YOU HAVE BEEN ALLOCATED (((HNPCC syndrome))) by the relevant member of staff.

It may be necessary to describe the disease presentation and the clinical evaluation to diagnose the disorder. USE A CASE STUDY TO DO THIS: SHOW A FAMILY TREE IF APPROPRIATE FOR THE DISORDER/SYNDROME/DISEASE.

What, if any PATTERN OF INHERITANCE is seen for the disorder?

Note that it is IMPORTANT that you briefly describe the TECHNOLOGIES used in research or clinical laboratories that are pertinent to that disorder (eg to give a definitive diagnosis). Communicate TREATMENTS used and ETHICAL issues that may be relevant to the disorder.

Evidence of evaluation and synthesis of the PRIMARY literature will be rewarded, as will appropriate use of diagrams.

The HARVARD referencing system should be utilised.
Note that DIAGRAMS/IMAGES are permissible, but diagrams outlining the techniques used in the diagnosis/analysis of the disorder/syndrome should be in the Technique Poster

Essay Grading:
Quality of communication and presentation (standard of grammar, sentence construction, punctuation and spelling, appropriate use of diagrams) (30%)

Relevant, accurate Scientific Content (60%)
Use of case study
Inheritance pattern (if appropriate)
Molecular basis of disease
Current technologies utilised to diagnose disorder in patients
Current treatments
Ethical Issues (if relevant)

Primary literature utilised (10%)
Note: Harvard referencing to be used

Note!: plagiarism/collusion will not be tolerated

Poster:
An A4 sized poster produced on the VISIO program
Clearly Outlines the Techniques mentioned in the Essay, and incorporates diagrams/schematic illustrations to communicate these effectively to a reader

Poster grading:
Quality of communication and presentation (standard of grammar, sentence construction, punctuation and spelling) (30%)

Relevant, accurate Scientific Content (60%)
Mention of relevant case study
Molecular basis of disease (briefly stated)
Current technologies utilised to diagnose disorder in patients and/or in the case study stated in the essay:
Diagrams/Tables should be incorporated into the poster
Sensitivity/Specificity of test should be stated
Potential Problems/Limitations of Technique (if any) should be stated
A brief history of the technique

Primary literature utilised (10%)
Note: Harvard referencing to be used

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