Posted: January 30th, 2022

Medical Genetics Task 2 Medical Genetics Assignment

SafeAssign
for selfreview
Photographs
Closing
SafeAssign
Medical Genetics Job 2
Medical Genetics Project Directions
1. SafeAssign for self-review. The hyperlink for the Draft SafeAssign part of your project
will probably be accessible on Blackboard all through the semester and can permit you to submit
a number of makes an attempt. That is designed to help you with writing your project and can permit
you to establish any issues related to plagiarism in your scientific overview of the
literature earlier than you submit your remaining model. This must be submitted 24 – 48 hours
earlier than your remaining submission to permit the SafeAssign originality report back to be generated.
2. Scientific overview of the literature. You’ll submit a 500 phrase (± 10%) overview of the
scientific literature related to a genetic dysfunction. The overview ought to tackle a selected
genetic dysfunction, with emphasis on the gene/s concerned and the molecular mechanisms of
the dysfunction. You’ll be assessed on the essential evaluation of the subject and synthesis of
info, the scientific benefit of the factual info offered, communication abilities
together with writing model (grammar, vocabulary, spelling, logical order), use of visible aids and
right referencing of your overview. This part will probably be submitted to the Job 2 Closing
Submission for plagiarism/collusion checking. Late submission might incur late penalties.
Goal:
You’ll discover and develop an understanding of ideas related to medical genetics, and
will achieve abilities within the overview and significant evaluation of related literature, and the communication of
info to a broader viewers.
Plagiarism test
earlier than remaining
submission
500 ± 10% phrase scientific
overview of the literature
Related photographs that assist
to explain the subject
The target of that is evaluation is to supply a scientific overview of the literature a couple of
monogenetic dysfunction. Your literature overview have to be written for knowledgeable viewers (e.g.
genetic counsellor – not the shopper), and it is best to assume the reader has a background in fundamental
genetics/molecular biology.
This evaluation goals to develop a deeper understanding of an idea/or ideas addressed throughout
the course.
It is best to select a human monogenic dysfunction in your Medical Genetics project. A extra
sophisticated genetic mechanism reminiscent of polygenic (a number of genes), multifactorial (a number of genes and
environmental contributions) or chromosomal abnormalities (a area of a chromosome is affected)
must be prevented as it will likely be tough to explain in ample element contemplating the 500 phrase restrict.
An epigenetic dysfunction ought to solely be chosen if there’s a very clear single gene mechanism (such
as Angelman syndrome – genomic imprinting).
A monogenic dysfunction arises from a mutation in a single gene. These issues run in households and
could be autosomal or sex-linked relying on whether or not the affected gene is positioned on autosomes or
intercourse chromosomes, and so they will also be dominant or recessive relying if one or two alleles are
essential to develop the dysfunction.
Examples of matters for the Medical Genetics Project embrace:
• Alpha- and beta-thalassemias
• Cystic fibrosis
• Duchenne muscular dystrophy
• Fragile X syndrome
• Friedrich’s Ataxia
• Haemochromatosis
• Haemophilia
• Huntington’s Illness
• Leber’s hereditary optic atrophy (LHON)
• Li–Fraumeni syndrome
• Marfan syndrome
• Phenylketonuria
• Sickle cell anaemia
• Tay-Sachs illness
• Wilson’s illness
Describe the genetic dysfunction focusing primarily on the molecular mechanisms that outcome within the
related phenotype.
The project ought to deal with the particular molecular mechanisms of the dysfunction (i.e. the gene/
s concerned, and the consequences of the genetic change). You could discover that you’ll be able to combine
ideas reminiscent of gene expression, personalised drugs, the human genome, heritability, the
molecular instruments used for prognosis and analysis, and/or the therapy of genetic illness into
your project.
As a consequence of latest developments in know-how that allow the examine of genes and their expression in
relation to human well being, your project ought to comprise, however will not be restricted to, latest analysis
articles (printed inside final 5 years).
Your project should tackle the next:
• A short overview of the genetic dysfunction.
• A deal with the molecular mechanisms (together with the particular gene/s, and/or regulatory
parts) related to the genetic dysfunction.
• The downstream impact on cell, organ or organism, of the molecular mechanisms and a
comparability between wholesome (regular functioning) and illness states.
• Strategies used to diagnose the dysfunction and/or detect mutation.
• Therapies used to deal with the dysfunction (if relevant).
Format
The format of your project is a scientific overview of the literature with a phrase restrict of 500 phrases ±
10% accompanied by photographs which might be related to the project matter that’s appropriately
referenced and written in a scientific writing model.
Directions
• Submission of the project will probably be to the Job 2 submission hyperlink in Blackboard.
1. Draft SafeAssign (non-compulsory Blackboard submission to Draft SafeAssign)
2. Scientific overview of the literature (submission to Closing Secure Assign)
• Check with the rubric when making ready your project as this will probably be used for marking.
• A template for the project is out there so that you can use if you’re having hassle with
structuring your project. You could modify the colors and font of this template if you want.
The phrase size given for every part is a information solely and will fluctuate barely relying on the
content material of your project.
Scientific overview of the literature
• Phrase restrict: 500 phrases ± 10%
Clearly point out the phrase rely in your project beneath your title and authors. The phrase
rely doesn’t embrace the reference record or determine captions.
Notice: a penalty might apply for assignments exterior the phrase restrict, see grading rubric for additional
particulars.
• Font: measurement 11 level Calibri, Arial, Verdana or comparable
for DNA sequences use Courier New as this font
permits for higher alignment of bases
• 1.5 line spacing
• Margins: Regular in phrase – 2.54 cm margins (left, proper, high and backside)
• Creator identify/s positioned within the header aligned proper
• Pages numbers positioned on the underside proper hand nook of every web page
• A template has been supplied so that you can use for formatting and steering on construction.
Referencing
The project have to be referenced utilizing the Vancouver model of referencing based mostly on the
formatting employed by the journal Genetics in Drugs. Creator tips on reference
formatting are described on the next web site and summarised beneath.
https://www.nature.com/gim/authors-and-referees/preparation-of-submissions
References
Accuracy of reference knowledge is the writer’s duty. Record the references within the numerical order in
which they seem within the manuscript. Reference citations will seem as numbers within the textual content. Solely record
references that seem inside the textual content. Record all authors if there are six or fewer; if there are extra
than six authors, record the primary three after which et al. Keep away from utilizing abstracts as references. Private
communications, and unpublished observations aren’t respectable references. Journal titles ought to
be abbreviated in keeping with PubMed. Whether it is unclear how a reference must be formatted, please
seek the advice of the American Medical Affiliation Handbook of Model: A Information for Authors and Editors, 10th
version, pages 39-79. Pattern reference types are as follows:
Journal article: Pomponio RJ, Hymes J, Reynolds TR, et al. Mutations within the human biotinidase gene
that trigger profound biotinidase deficiency in symptomatic youngsters: molecular, biochemical, and
medical evaluation. Pediatr Res. 1997;42:840–848.
E book: Gelehrter TD, Collins FS, Ginsburg D, editors. Ideas of medical genetics, 2nd ed. Baltimore:
Williams & Wilkins; 1998.
Chapter in a guide: Friedman JM, Dill FJ, Hayden MR. Inhabitants genetics. In: Friedman JM, Dill FJ,
Hayden MR, editors. NMS genetics. Baltimore: Williams & Wilkins; 1996:105–109.
Assembly paper: Kessler S. Transcripts of genetic counseling periods: workouts in missed
alternatives. Paper offered at Speaking Human Genetics: Verbal Communication, Data and
Genetic Make-up, Hamburg, 24—27 April 1997.
Thesis/dissertation: Hellsten E. Positional cloning of the childish ceroid lipofuscinosis gene.
Dissertation, Helsinki: Nationwide Public Well being Institute, 1995.
World Huge Internet: Web page Institut Curie, 1997. http://www.curie.fr/curie/sm/brca. Accessed 30
January 2000.
Laptop software program: SAS Institute [computer program]. Launch 6.12. Cary, NC: SAS Institute, 1997.
On-line database: OMIM (On-line Mendelian inheritance in man). Baltimore: Johns Hopkins
College, Middle for Medical Genetics, 1996. http://www3.ncbi.nlm.nih.gov/omim/(September)
Most popular reference supplies embrace:
• Related and up to date journal articles – both overview articles or analysis articles.
• Specialised textbooks (secondary references)
• Keep away from using unsubstantiated web sites (together with Wikipedia!) as the vast majority of them are
not peer-reviewed.
• When you entry a journal article on-line that has been printed in a tough copy, it is best to nonetheless
reference the article within the ordinary format (e.g. authors, article title, journal identify, 12 months,
quantity quantity, web page numbers). If the article is printed on-line forward of time, e.g. it has an
eFIRST date, it is best to embrace the DOI (Digital On-line Identification) quantity on the finish of
the reference.
You’re inspired to make use of figures, diagrams, photographs or different visible aids to assist illustrate your
project however keep in mind to respect copyright and to acknowledge sources with in-text references
and embrace the supply within the reference record. Utilizing photographs from the online is suitable so long as they
are freed from copyright and referenced appropriately (embrace an entry date).
[Hint to find images – use the creative commons resource to access images,
http://creativecommons.org.au/]
Medical Genetics Project Standards:
The medical genetics project will probably be graded based mostly on the next standards (see Project
Rubric on Blackboard):
• OVERVIEW (Weighting 20%) – Scientific benefit of content material, understanding of chosen genetic
dysfunction, stage of element and depth of description.
o How have you ever described the overview, of the genetic dysfunction?
o Is your project scientifically correct?
o Have you ever carried out an intensive seek for related info and sourced
info from dependable and present scientific literature?
• MOLECULAR MECHANISMS (Weighting 40%) – Scientific benefit of content material, understanding of
chosen genetic dysfunction, stage of element and depth of description.
o How have you ever described the molecular mechanisms of your monogenic dysfunction?
o Is your project scientifically correct?
o Have you ever carried out an intensive seek for related info and sourced
info from dependable and present scientific literature?
• DIAGNOSTIC METHODS AND THERAPEUTICS (Weighting 20%) – Scientific benefit of content material,
understanding of chosen genetic dysfunction, stage of element and depth of description.
o How have you ever described the diagnostic strategies and therapeutics of your idea?
o Is your project scientifically correct?
o Have you ever carried out an intensive seek for related info and sourced
info from dependable and present scientific literature?
• VISUAL IMPACT – (Weighting 5%) – Use of visible aids to boost understanding of the
info supplied.
o Are the photographs used related to the data supplied?
o Do the photographs help the reader to know the subject?
• WRITING STYLE (Weighting 10%) – Applicable scientific writing model and vocabulary for
your audience, together with logical stream of data.
o Is your overview of the scientific literature written in a scientific writing model with
acceptable vocabulary?
o Is your spelling and grammar right?
o Is the data offered within the project well-structured and does it comply with a
logical order?
• PRESENTATION, FORMATTING AND REFERENCING (Weighting 5%) – Directions and proper
formatting fastidiously adopted, together with right referencing model.
o Have you ever adopted directions?
o Have you ever fastidiously checked the formatting, particularly references?
o Have you ever used the Genetics in Drugs format for referencing?

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