Genetic Disorders Explained (Descriptive Essay)

Genetic Disorders Explained (Descriptive Essay)
Topic:
The selection of the disease topic for the paper project is randomly done via lottery. The
number selected correspond to a disease topic listed in a document posted in Blackboard.
Objective:
To research and write a paper describing the cause(s) of the disease, how the disease
disturbed the anatomy and/or physiology of the organ(s)/organ system(s) involved, the
symptoms associated with the disease, treatments available, and any other historical notes or
relevant information you find interesting. The paper should be at least 5 pages, excluding the
title page, abstract, and citation page.
Guidelines:
Your paper should be composed in indented paragraphs. Make sure that the sentences
within the paragraphs are all topically united and cohesive, and that the paper has an overall
logical flow. This paper should be written formally, at the collegiate level, and must have a
professional outlook. Write formally, as if you were presenting this information to your peers in
the class. You should use the technical language of this discipline, but do not veer into extreme
detail that only a specialist would know. Please avoid using the first- or second-person point.
Completed project must be APA format, typed, and title page must contain the course
name, student’s name and submission date. Proper spelling and grammar must be present.
Please use 1” margins, and a standard font size of 12. The font of choice should be a
standard font style like Calibri, Cambria, Times New Roman, or Arial. Make sure that your font
is consistent throughout the paper, especially if you are typing on multiple devices! Use doublespacing, and do not have extra spaces in-between your paragraphs. NOTE: You will have to
change the default settings on most word processing programs to comply with these
guidelines. Change the settings before you start typing!
The minimum length is five (5) pages. Note that this does NOT include the title page, first
page abstract, nor the Works Cited page.
You MUST use in-text citations and include a Works Cited page. If you cite a source within
the paper, it must appear in the Works Cited page; conversely, all works in the Works Cited page
must be cited within the paper. You will be using APA format for the citations. You must use a
minimum of four (4) sources, but I strongly recommend digging for more, even when it comes to
researching basic information on the disease that you have chosen. Additionally, at least two (2) of your sources must be peer-reviewed articles. Other sources can include websites that have
.org or .gov endings. When citing these websites, only use one citation, even if you visit multiple
pages within the overall site.
This assignment will be submitted electronically through Blackboard.
Content:
The report must contain:
• Paper must be in APA format which includes a running head, abstract, in-text citations,
and references.
• Title page containing course name, course number, project name, student name and
submission date.
• An introduction explaining the cause(s) of the disease, its discovery, and epidemiology.
• The body of the project should contain a brief discussion on the demographic settings
(you can include in this this summary about specialty physicians or patient types).
• The body of the project should contain how the disease disturbed the anatomy and/or
physiology of the organ(s)/organ system(s) involved, the symptoms associated with the disease,
treatments available, and any other historical notes, global implications, or relevant information
you find interesting.
• Your paper should also have a conclusion of your research findings.
• Finally, there should be a list of at least four (4) resources used to compile report
information. Each entry should be specific as to source, author, date, publisher or web location.
URLs should be both the URL to the home page and the direct URL to the webpage containing
the data. The Reference List must be in APA Format. Wikipedia is NOT a valid resource.
The following web links should assist you with APA format including abstract:
https://owl.english.purdue.edu/owl/owlprint/560/
https://owl.english.purdue.edu/owl/resource/560/01/
Grading:
Projects will be graded on adherence to all guidelines which include research quality,
content, writing quality (grammar and spelling) and APA formatting. Each of these four main
elements is equal to 25% of the overall project grade. Please see the grading section of the
syllabus and the Rubric (please see separate document) for an explanation of grading standards.
A minimum of 500 words is required. This assignment is worth 50 points.
For help with finding sources and learning about proper citation, please contact one of
the librarians; from my experience and conference with them, they really enjoy helping students
eager to do a good job.
For more assistance with the paper, there is a Writing Center on campus. Make a 30-
minute appointment with a Writing Center Counselor to go over your manuscript draft and  provide you with guidance to better improve your final submission. There is information (and
more online resources) here on their website.
Links
https://online.regiscollege.edu/blog/information-5-common-genetic-disorders/
https://www.medicinenet.com/genetic_disease/article.htm
https://www.who.int/genomics/public/geneticdiseases/en/index2.html
https://en.wikipedia.org/wiki/List_of_genetic_disorders
https://www.labroots.com/trending/infographics/8833/10-common-genetic-diseases
http://www.meddean.luc.edu/lumen/MedEd/USMLE/Table_of_Genetic_Disorders.pdf
 
Examples of multifactorial inheritance include

1. heart disease,
2. high blood pressure,
3. Alzheimer’s disease,
4. arthritis,
5. diabetes,
6. cancer, and
7. obesity.

Some examples of single-gene disorders include

1. cystic fibrosis,
2. alpha- and beta-thalassemias,
3. sickle cell anemia (sickle cell disease),
4. Marfan syndrome,
5. fragile X syndrome,
6. Huntington’s disease, and
7. hemochromatosis.

6 Symptoms and Signs of Down Syndrome

The baby with Down syndrome has a hallmark appearance. However, every aspect of the appearance does not need to be present as the phenotype, the way the genes make the child look, can be markedly different for each patient. Common Down syndrome symptoms are:

1. a small head and short neck,
2. flat face, and
3. upward slanting eyes, ears are flat and positioned lower than “normal,”
4. the tongue protrudes and seems to be too large for the mouth,
5. hands tend to be wide,
6. short fingers and there is just a single flexion crease in the palm, and
7. joints tend to be more flexible and muscles may lack tone.