human disease with a genetic componen

Choose a human disease with a genetic component to study this semester.

a. You MUST select from the list provided in Moodle

b. Everyone MUST choose a different disease.

c. Post your selection to the relevant forum in Moodle.

d. You need to check that nobody else has selected the same disease prior to posting your selection.

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.

Dos and Don’ts


· Use textbooks, scholarly articles, or other internet sources

· Use ‘.gov,’ ‘.org,’ or ‘.edu’ websites

· Provide references both in-text and in a reference list at the end

· Pick something that is interesting to you! This will be an ongoing project throughout the semester.

Do NOT :

· Use ‘.com’ websites

· Use exact phrasing form your source and just put reference information

· Use exact phrasing from your source and just put it in quotes (this is VERY common for students to do; material in quotes will NOT be included in the assessment of your paper)

[If you are unsure about what constitutes plagiarism, see the ‘plagiarism’ document in Moodle]

Submit your response to Turnitin

Access the Turnitin link in the last block of the course. Plagiarized documents are subject to losing points (up to 100% of points) depending on the extent of plagiarism. There will be no second changes to submit papers to Turnitin so make sure that you have not copied your sources.

Other notes

a. Papers will be limited to two pages (one page for the disease description and one page for the genetics description), excluding references (which should be listed on page three). Material exceeding the page limits will not be considered in the evaluation of your paper. NO EXCECPTIONS!

b. Any material in quotes will not be considered in the evaluation of your paper. Do not quote. Rephrase everything in your own words.

c. A grading guide is available in Moodle. This guide breaks down how your paper will be evaluated. There will be no opportunities to ‘fix’ papers after the deadline, so be sure to use this guide before submission of your paper.

d. Papers need to be in size 11.5 or 12 font, Times New Roman, with 0.8-1 inch margins. Your name (first and last) needs to be inserted into the header of the paper.

e. References in reference list must be formatted consistently (you may chose the format, however you must be consistent in your choice).

f. Late papers will incur a penalty of 15 points per day.

If you have any questions, please ask!

What is a genotype? What is a phenotype?

Your genotype is your complete heritable genetic identity; it is your unique genome that would be revealed by personal genome sequencing. However, the word genotype can also refer just to a particular gene or set of genes carried by an individual. For example, if you carry a mutation that is linked to diabetes, you may refer to your genotype just with respect to this mutation without consideration of all the other gene variants that you may carry.

In contrast, your phenotype is a description of your actual physical characteristics. This includes straightforward visible characteristics like your height and eye color, but also your overall health, your disease history, and even your behavior and general disposition. Do you gain weight easily? Are you anxious or calm? Do you like cats? These are all ways in which you present yourself to the world, and as such are considered phenotypes. Phenotypes can also be what occurs at the molecular level. For example, a deficiency in metabolizing lactose or a non-functional cellular receptor can also be phenotypes.

For your project, you should include all symptoms associated with the disease you have selected, as well as any information relating to the cellular and molecular levels. For example, phenotypes of Tay-Sachs disease would be a deficiency of hexosaminidase-A (Hex-A), an abnormal accumulation of GM2 ganglioside, damage to brain/nerve cells, seizures, decreased cognitive function, inability to crawl, death, etc.

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