Paper Assignment
Describe the disease
a. Describe the disease characteristics (outward and inward). You should mention any physical aspects of the disease including external and internal morphological impacts, any cognitive/neurological or muscular/motor-related impacts of the disease. You should also include any metabolic or other physiologic deficiencies (such as digestion or enzymatic deficiencies).
b. You should discuss life expectancy/quality of life, age of typical diagnosis, how a diagnosis is determined, and if there are any treatment methods or cures available.
c. Include any other interesting facts about the disease, such as how many annual cases are reported, geographic associations (places where the disease is more common), etc.
d. This portion of the paper is limited to one page.
Describe the genetic basis
a. Describe the gene(s) and/or chromosome(s) involved in the disease. If there are more than three genes implicated in the disease, mention this, but focus on no more than three.
b. Describe the errors/mutations in the gene(s) and/or chromosome(s) that result in the disease. Are deletions involved? Are SNPs associated with the implicated genes?
c. Relate the phenotypes of the disease (as you have outlined in part ‘a' of the above) with the normal function of the affected gene(s) and/or chromosome(s). In other words, why does a mutation in the implicated gene explain the symptoms/characteristics of the disease?
d. Describe what is known about the heritability of the disease. This may not be completely known but you must at least find a reputable source that states this and cite the source. Don't simply fail to address this point because it is not known.
e. Information for this portion of your paper MUST come from the primary scientific literature, and you MUST use a minimum of three sources. Information from websites (even from NIH or OMIM, etc.) will not be accepted.
f. This portion of the paper is limited to one page.
Format your assignment according to the following formatting requirements:
1. The answer should be typed, double spaced, using Times New Roman font (size 12), with one-inch margins on all sides.
2. The response also includes a cover page containing the title of the assignment, the student's name, the course title, and the date. The cover page is not included in the required page length.
3. Also include a reference page. The Citations and references should follow APA format. The reference page is not included in the required page length.