[Solution]Medical Genetics

Assessment Description Write an essay demonstrating critical analysis on ONE human disorder involving chromosomal abnormalities, including a discussion of the ethics involved in diagnosing the disorders.   Be…

Assessment Description

Write
an essay demonstrating critical analysis on ONE human disorder
involving chromosomal abnormalities, including a discussion of the ethics
involved in diagnosing the disorders.  

Be
sure to structure your work appropriately and include: the underlying genetics
of your chosen disorder; the molecular and functional consequences of the
aberration; the clinical presentation; and the diagnosis and management of the
condition. Include as much scientific and molecular detail as possible. Your
reference material at this level should include up-to-date journals. The main
content of the essay should be around 1300 words, and then around 200 words on
the ethical issues.

Create
all figures that you include yourself. Hand-drawn figures and figures created
using a computer program are equally acceptable. If you figure is adapted from
an existing source, be sure to reference the source appropriately. Minimum and
maximum numbers of figures are not given; use your judgement to create a
suitable balance between text and figures.

Word
limit: 1500 words. This word limit does not include references, titles, figure
legends, tables or figures.

Essay
guidelines:

Your essay must be written in your
own words and style, and should be no more than 1500 words in length. Essays
that are significantly over length will be penalised. Your essay must have an original
title that encapsulates the ideas that you are presenting.Your subject-matter must be at the
cutting edge of medical genetics, and thus should include at least ten
references from peer reviewed journal papers including four from the last four
years.You are strongly advised to make
sensible use of figures and tables. These should reflect your own specific
requirements and, if they are adapted from published figures or tables, you
must acknowledge your sources. Tables and figure legends do not contribute to
the overall word-count.The type of reader you should have in
mind is someone already having a good general knowledge of the subject area.
Such a person will be hoping for an interesting, and original, presentation of
mostly familiar material. Anything extra will be a bonus. Try to avoid
including anything very basic.You should make a search of the
scientific literature for suitable material and use a wide range of appropriate
sources; use Medline/Pubmed – you will find them invaluable. Your essay should
be fully referenced in Harvard style.

Marking scheme, criteria or rubric

Your
essay will be assessed on the basis of its content, style, effectiveness of
presentation and originality. Mark allocations are as follows:

Introduction
(10 marks):  A brief overview setting
the direction and agenda for essay.

Body
of essay (40 marks): Detailed analysis; material
presented at an appropriate level for the target audience; current and accurate
content; volume and depth of content; each point well supported with examples
and argument; an original and interesting argument/idea; reflection on the
ethics involved.

Conclusion
(10 marks): Concise summary; placing the
information and ideas of the essay in a wider context. Credit will be lost if
new facts are provided.

Essay
structure (10 marks): Easy to read; logical flow
and order with appropriate headings or subheadings as needed; tables and
figures numbered with appropriate headings or subheadings as needed;
appropriate legends used for clarity.

Student-created
figures (10 marks): Clear and relevant figures that
complement the body of text and add appropriate detail; evidence of original
thought in creation and presentation of figures. Figures may be created using
digital tools or in hard copy.

Written
expression (10 marks): Appropriate
paragraph and sentence structure, including accurate spelling, grammar and
punctuation.

References 
(10 marks): Multiple, current primary
research papers used, as well as other appropriate sources; good breadth and
depth of knowledge base used for the essay; correct (Harvard style) formatting
(in-text and in reference list); appropriate referencing for figures and
tables.
The post Medical Genetics

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