Provide genetic pathophysiology of the disease.

This week you were introduced to several diseases that result from a change in the genetic code. Your assignment this week to is to pick one and provide genetic pathophysiology of the disease. You should discuss the signs and symptoms of the disease, the characteristics of the gene that is linked to the disease, the type(s) of mutation that results in the disease, and characteristics of the inheritance of the disease. In addition, please find and integrate a peer-reviewed primary research article that discusses an attribute of the disease. Follow the assignment mutations from the Additional Resources readings.

Assignment Expectations:

Length should be 1500-1750 words, not including title and references pages (typed, 12 point font, double spaced).

Include these subheadings in your paper:

summary of the disease,

function of the gene linked to the disease,

mutation of the gene, and inheritance characteristics

Find and integrate a primary research article into one or more of the subsections listed above. You may use the Aspen library resources or a search engine like Google Scholar (http://scholar.google.com/ Scholar limits your returns to only peer-reviewed articles). An example article can be found here: http://www.pnas.org/content/91/21/9975.full.pdfSupport your content with at least (4) citations. Make sure to reference the citations using APA writing style for the presentation.

You must proofread your paper. But do not strictly rely on your computer’s spell-checker and grammar-checker; failure to do so indicates a lack of effort on your part and you can expect your grade to suffer accordingly. Papers with numerous misspelled words and grammatical mistakes will be penalized. Read over your paper – in silence and then aloud – before handing it in and make corrections as necessary. Often it is advantageous to have a friend proofread your paper for obvious errors. Handwritten corrections are preferable to uncorrected mistakes.

Use a standard 10 to 12 point (10 to 12 characters per inch) typeface. Smaller or compressed type and papers with small margins or single-spacing are hard to read. It is better to let your essay run over the recommended number of pages than to try to compress it into fewer pages.

Likewise, large type, large margins, large indentations, triple-spacing, increased leading (space between lines), increased kerning (space between letters), and any other such attempts at “padding” to increase the length of a paper are unacceptable, wasteful of trees, and will not fool your professor.

The paper must be neatly formatted, double-spaced with a one-inch margin on the top, bottom, and sides of each page. When submitting hard copy, be sure to use white paper and print out using dark ink. If it is hard to read your essay, it will also be hard to follow your argument.