Assignment 829.

The introduction should consist of two parts, a short referral for a theoretical patient that includes the patient characteristics and the diagnostic results used to justify the preliminary diagnosis and a suggested genetic screening strategy.
Disorder specific content (30%) This section should cover three areas Pathogenesis, Aetiology and Epidemiology.

You should aim to include a range of information, from appropriate sources, and your essay should include critical analysis of this material. • Pathogenesis should at minimum describe the progression of the disorder and potential outcomes for the affected individual.

• Aetiology should include mode or modes of inheritance. Also specific information about the function of the effected gene product. •

Epidemiology should include pertinent information on the prevalence/incidence, distribution and risk factors for the disorder.
Variant specific content (30%) Marking of this section will be based on the appropriate use of scientific literature and databases, and bioinformatics tools. Then the synthesis of this information and its use to justify a recommendation that the variant be classified as “pathogenic”, “likely pathogenic”, uncertain significance”, “likely benign” or “benign” using the basic principles set down in the 2015 consensus recommendation of the American College of Medical Genetics and Genomics for the interpretation of sequence variants (Richards et al. 2015).

Recommendations and conclusions (20%) Recommendations for the clinical management of the disorder, including any mutation specific recommendations.

Discussion of future directions in research, treatment and diagnosis that would improve patient outcomes.

A brief summary of the topic and any conclusions.
Information sources used, referencing and document quality (10%) This section will be assessed on the following criteria:

• Appropriate texts/reviews /papers sourced for the topic and accurately referenced in MMU Harvard style. Referencing must be in Harvard style. Any material cited must be included in a bibliography (alphabetical by first author surname) after the conclusion. The bibliography does not contribute to the word count of the assignment.

• Standard of spelling, grammar and flow of report

• The work is clear, concise and written in a scientific style

• Document quality- formatting, including appropriate use of tables and figures. Additional support material is available on the course moodle page. Format and structure of the submission Your essay should be presented as a fully referenced word document. It should be 2500 words long (excluding reference list).

Penalties for over long submissions: Coursework that exceeds the stated word limit by more than 10% will have the overall mark reduced by 5% and the material after the 2750 words cut off will not marked. Marking process General assessment criteria include:

• fulfilment of the requirements of the assignment task (including adherence to any word or page length specified);

• evidence of reading around the subject with correct and complete citation and referencing of sources;

• appropriate scope and evidence of understanding of theoretical concepts as well as factual information;

• evidence of critical thinking and appraisal; delivery of a clear, well structured document;

• appropriate presentation of data (qualitative or quantitative)

• standard and style of written English, grammar, spelling and punctuation; and evidence of innovative and creative thinking. The general criteria detailed above are reflected in the Standard

Descriptors given below. Check the Standard Descriptors (Appendix 1) to see what changes you need to make to improve your marks and to get a better idea of what it is that we are looking for when we assess your essay. Specific assessment criteria include: Feedback plan Marks and feedback will be made available to you a working month following the submission date. Feedback will be in the form of a marking

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Assignment 829