Explain Fragile X Syndrome

Instruction & Requirements:
The paper must be a minimum of 7 pages and a maximum of 8 pages (this DOES NOT include the title page and works cited page).

Papers should have 1 inch margins, 12 point font (Calibri or Times New Roman only) and be double spaced.


The paper should be a maximum of 8 pages, double spaced, standard margins report.

You will also include a brief presentation of 5-8 slide, not including cover slide presentation Your written assignment will be reviewed using Turn it in and/or similar plagiarism detection tools.

What to include in your paper:

1. Title page: your (1) name; (2) name or Title of your paper detailing your disorder/disease, pathway or technique; (3) date paper is due

2. Abstract: Summary of your written paper. It should hit all major parts of your paper! [175-250 words]

Body of the paper should include the following (not specifically this order):

a. Describe how the disorder is passed on, or how it originates OR why the pathway or molecular technique is important. Outline what molecular pathway is disrupted or dysregulated

Describe how the disorder affects the human body OR describe how the pathway or technique impacts functions or how it is used

b. What types of symptoms does the disorder cause? OR Detail any aberrations in this pathway and what it means in terms of disease.

c. What is the life expectancy for someone with this disorder?

d. What is the current treatment of this disorder?

e. What group/groups of people are most affected by this disorder?

f. How common is this disorder? How many people does it affect in the US? The world? OR For techniques, talk about the applicability of this technique, where it is being used and what companies are manufacturing this test

g. Describe any techniques that have been used to discover or how the disease is diagnosed in the lab?

h. Has there been any recent research developments for this disorder and what does it mean for diagnosis, prevention, treatment, or cure for this disorder.

3. Works Cited Page: you need to include ALL sources that you use for your research!


You can use PowerPoint or Prezi to compile your slides. Make sure to include a title slide. Your presentation should provide an overview with some detail into what your paper covered, making sure to include images and data relevant to your topic. Your presentation should be 5-8 slides in length (not including your cover slide or a bibliography slide).

Remember as you begin researching your disease your goal is to be a \”mini\” expert for your classmates on that disease. Thus, don\’t depend on websites (especially not Wikipedia) for your information, this is a graduate genetics course so please try to use PubMed http://www.ncbi.nlm.nih.gov/pubmed and http://www.ncbi.nlm.nih.gov/gtr/, Online Mendelian Inheritance in Man (OMIM) and other sites that have links to the current research on the condition or technique you are researching. If you have a more common disease your articles and works cited/bibliography should be relatively recent within the last several years because genetics is a growing field. If you have chosen a more rare condition it is understandable if your references are older because less research and clinical evidence probably exists for your condition. Also for incidence and prevalence rates make sure to use the most recent CDC or NIH numbers for US statistics. Please let me know if you individually need more direction.

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