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Medical Genetics Task 2
Medical Genetics Assignment Instructions
1. SafeAssign for self-review. The link for the Draft SafeAssign component of your assignment
will be available on Blackboard throughout the semester and will allow you to submit
multiple attempts. This is designed to assist you with writing your assignment and will allow
you to identify any problems associated with plagiarism in your scientific review of the
literature before you submit your final version. This should be submitted 24 – 48 hours
before your final submission to allow the SafeAssign originality report to be generated.
2. Scientific review of the literature. You will submit a 500 word (± 10%) review of the
scientific literature relevant to a genetic disorder. The review should address a specific
genetic disorder, with emphasis on the gene/s involved and the molecular mechanisms of
the disorder. You will be assessed on the critical analysis of the topic and synthesis of
information, the scientific merit of the factual information presented, communication skills
including writing style (grammar, vocabulary, spelling, logical order), use of visual aids and
correct referencing of your review. This component will be submitted to the Task 2 Final
Submission for plagiarism/collusion checking. Late submission may incur late penalties.
Objective:
You will explore and develop an understanding of concepts associated with medical genetics, and
will gain skills in the review and critical analysis of relevant literature, and the communication of
information to a broader audience.
Plagiarism check
before final
submission
500 ± 10% word scientific
review of the literature
Relevant images that help
to describe the topic
The objective of this is assessment is to provide a scientific review of the literature about a
monogenetic disorder. Your literature review must be written for a professional audience (e.g.
genetic counsellor – not the client), and you should assume the reader has a background in basic
genetics/molecular biology.
This assessment aims to develop a deeper understanding of a concept/or concepts addressed during
the course.
You should choose a human monogenic disorder for your Medical Genetics assignment. A more
complicated genetic mechanism such as polygenic (multiple genes), multifactorial (several genes and
environmental contributions) or chromosomal abnormalities (a region of a chromosome is affected)
should be avoided as it will be difficult to describe in sufficient detail considering the 500 word limit.
An epigenetic disorder should only be selected if there is a very clear single gene mechanism (such
as Angelman syndrome – genomic imprinting).
A monogenic disorder arises from a mutation in a single gene. These disorders run in families and
can be autosomal or sex-linked depending on whether the affected gene is located on autosomes or
sex chromosomes, and they can also be dominant or recessive depending if one or two alleles are
necessary to develop the disorder.
Examples of topics for the Medical Genetics Assignment include:
• Alpha- and beta-thalassemias
• Cystic fibrosis
• Duchenne muscular dystrophy
• Fragile X syndrome
• Friedrich’s Ataxia
• Haemochromatosis
• Haemophilia
• Huntington’s Disease
• Leber’s hereditary optic atrophy (LHON)
• Li–Fraumeni syndrome
• Marfan syndrome
• Phenylketonuria
• Sickle cell anaemia
• Tay-Sachs disease
• Wilson’s disease
Describe the genetic disorder focusing mainly on the molecular mechanisms that result in the
associated phenotype.
The assignment should focus on the specific molecular mechanisms of the disorder (i.e. the gene/
s involved, and the effects of the genetic change). You may find that you are able to integrate
concepts such as gene expression, personalised medicine, the human genome, heritability, the
molecular tools used for diagnosis and research, and/or the treatment of genetic disease into
your assignment.
Due to recent advancements in technology that enable the study of genes and their expression in
relation to human health, your assignment should contain, but is not limited to, recent research
articles (published within last 5 years).
Your assignment must address the following:
• A brief overview of the genetic disorder.
• A focus on the molecular mechanisms (including the specific gene/s, and/or regulatory
components) associated with the genetic disorder.
• The downstream effect on cell, organ or organism, of the molecular mechanisms and a
comparison between healthy (normal functioning) and disease states.
• Methods used to diagnose the disorder and/or detect mutation.
• Therapies used to treat the disorder (if applicable).
Format
The format of your assignment is a scientific review of the literature with a word limit of 500 words ±
10% accompanied by images that are relevant to the assignment topic that is appropriately
referenced and written in a scientific writing style.
Instructions
• Submission of the assignment will be to the Task 2 submission link in Blackboard.
1. Draft SafeAssign (optional Blackboard submission to Draft SafeAssign)
2. Scientific review of the literature (submission to Final Safe Assign)
• Refer to the rubric when preparing your assignment as this will be used for marking.
• A template for the assignment is available for you to use if you are having trouble with
structuring your assignment. You may adjust the colours and font of this template if you wish.
The word length given for each section is a guide only and may vary slightly depending on the
content of your assignment.
Scientific review of the literature
• Word limit: 500 words ± 10%
Clearly indicate the word count on your assignment underneath your title and authors. The word
count does not include the reference list or figure captions.
Note: a penalty may apply for assignments outside the word limit, see grading rubric for further
details.
• Font: size 11 point Calibri, Arial, Verdana or similar
for DNA sequences use Courier New as this font
allows for better alignment of bases
• 1.5 line spacing
• Margins: Normal in word – 2.54 cm margins (left, right, top and bottom)
• Author name/s located in the header aligned right
• Pages numbers located on the bottom right hand corner of each page
• A template has been provided for you to use for formatting and guidance on structure.
Referencing
The assignment must be referenced using the Vancouver style of referencing based on the
formatting employed by the journal Genetics in Medicine. Author guidelines on reference
formatting are described on the following website and summarised below.
https://www.nature.com/gim/authors-and-referees/preparation-of-submissions
References
Accuracy of reference data is the author’s responsibility. List the references in the numerical order in
which they appear in the manuscript. Reference citations will appear as numbers in the text. Only list
references that appear within the text. List all authors if there are six or fewer; if there are more
than six authors, list the first three and then et al. Avoid using abstracts as references. Personal
communications, and unpublished observations are not legitimate references. Journal titles should
be abbreviated according to PubMed. If it is unclear how a reference should be formatted, please
consult the American Medical Association Manual of Style: A Guide for Authors and Editors, 10th
edition, pages 39-79. Sample reference styles are as follows:
Journal article: Pomponio RJ, Hymes J, Reynolds TR, et al. Mutations in the human biotinidase gene
that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and
clinical analysis. Pediatr Res. 1997;42:840–848.
Book: Gelehrter TD, Collins FS, Ginsburg D, editors. Principles of medical genetics, 2nd ed. Baltimore:
Williams & Wilkins; 1998.
Chapter in a book: Friedman JM, Dill FJ, Hayden MR. Population genetics. In: Friedman JM, Dill FJ,
Hayden MR, editors. NMS genetics. Baltimore: Williams & Wilkins; 1996:105–109.
Meeting paper: Kessler S. Transcripts of genetic counseling sessions: exercises in missed
opportunities. Paper presented at Talking Human Genetics: Verbal Communication, Knowledge and
Genetic Makeup, Hamburg, 24—27 April 1997.
Thesis/dissertation: Hellsten E. Positional cloning of the infantile ceroid lipofuscinosis gene.
Dissertation, Helsinki: National Public Health Institute, 1995.
World Wide Web: Page Institut Curie, 1997. http://www.curie.fr/curie/sm/brca. Accessed 30
January 2000.
Computer software: SAS Institute [computer program]. Release 6.12. Cary, NC: SAS Institute, 1997.
Online database: OMIM (Online Mendelian inheritance in man). Baltimore: Johns Hopkins
University, Center for Medical Genetics, 1996. http://www3.ncbi.nlm.nih.gov/omim/(September)
Preferred reference materials include:
• Relevant and recent journal articles – either review articles or research articles.
• Specialised textbooks (secondary references)
• Avoid the use of unsubstantiated websites (including Wikipedia!) as the majority of them are
not peer-reviewed.
• If you access a journal article online that has been published in a hard copy, you should still
reference the article in the usual format (e.g. authors, article title, journal name, year,
volume number, page numbers). If the article is published online ahead of time, e.g. it has an
eFIRST date, you should include the DOI (Digital Online Identification) number at the end of
the reference.
You are encouraged to use figures, diagrams, photos or other visual aids to help illustrate your
assignment but remember to respect copyright and to acknowledge sources with in-text references
and include the source in the reference list. Using images from the web is acceptable as long as they
are free of copyright and referenced correctly (include an access date).
[Hint to find images – use the creative commons resource to access images,
http://creativecommons.org.au/]
Medical Genetics Assignment Criteria:
The medical genetics assignment will be graded based on the following criteria (see Assignment
Rubric on Blackboard):
• OVERVIEW (Weighting 20%) – Scientific merit of content, understanding of chosen genetic
disorder, level of detail and depth of description.
o How have you described the overview, of the genetic disorder?
o Is your assignment scientifically accurate?
o Have you carried out a thorough search for relevant information and sourced
information from reliable and current scientific literature?
• MOLECULAR MECHANISMS (Weighting 40%) – Scientific merit of content, understanding of
chosen genetic disorder, level of detail and depth of description.
o How have you described the molecular mechanisms of your monogenic disorder?
o Is your assignment scientifically accurate?
o Have you carried out a thorough search for relevant information and sourced
information from reliable and current scientific literature?
• DIAGNOSTIC METHODS AND THERAPEUTICS (Weighting 20%) – Scientific merit of content,
understanding of chosen genetic disorder, level of detail and depth of description.
o How have you described the diagnostic methods and therapeutics of your concept?
o Is your assignment scientifically accurate?
o Have you carried out a thorough search for relevant information and sourced
information from reliable and current scientific literature?
• VISUAL IMPACT – (Weighting 5%) – Use of visual aids to enhance understanding of the
information provided.
o Are the images used relevant to the information provided?
o Do the images assist the reader to understand the topic?
• WRITING STYLE (Weighting 10%) – Appropriate scientific writing style and vocabulary for
your target audience, including logical flow of information.
o Is your review of the scientific literature written in a scientific writing style with
appropriate vocabulary?
o Is your spelling and grammar correct?
o Is the information presented in the assignment well-structured and does it follow a
logical order?
• PRESENTATION, FORMATTING AND REFERENCING (Weighting 5%) – Instructions and correct
formatting carefully followed, including correct referencing style.
o Have you followed instructions?
o Have you carefully checked the formatting, especially references?
o Have you used the Genetics in Medicine format for referencing?

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