Human Genetic Disease

There is a tremendous amount of important genetic information available online, in fact, some information is really available only online. However, the Genbank
(Links to an external site.)
and OMIM scientific databases are very technical and are too difficult for most people to use. These are typically databases that a scientist would access for large amounts of detail that a general audience might not need. A potential solution to this would be entries written for a general audience in the open source Wikipedia
(Links to an external site.)
encyclopedia project.
I would like you to to put your genetics knowledge to some use by researching a human genetic disease using Genbank
(Links to an external site.)
, OMIM
(Links to an external site.)
and other specialized databases, and then writing a report for the Wikipedia
(Links to an external site.)
that summarizes the key information about the gene.
Your writing assignment should include the following discussions:
1. What is the function of the normal (not mutated) gene?
2. Discuss the mutations responsible for the most common alleles, at both the DNA level and the protein level (point mutations, insertions, missense, frameshift, etc.).
**Update, please note, if you pick a disorder that has a chromosome deletion, you need to list every gene that is lost and discuss known mutations for those genes**
3. Whether the mutant alleles (usually a disease causing allele) are dominant or recessive, the consequences of inheriting the mutant allele (what are the symptoms, how is the disease treated, what is the prognosis for an afflicted individual, etc.), the frequency of the mutant allele in the population.
4. Since genetic diseases are inherited, a family wanting to have a child could consult with a medical geneticist before getting pregnant especially if there is a known family history. Why might genetic counseling be useful for such parents? Do you believe that this should be mandatory or simply optional (they can have the results without counseling if they wish)?
Formatting of this writing assignment
1. The minimum number of words for this writing assignment is 250 words (not including references)
2. 1 inch margins, double spaced, Use a font size of 12 point. Font choices can be Times New Roman, Arial, Verdana.
3. References must be cited appropriately and you must use either APA or MLA style. References must be primary articles. You CANNOT reference a wikipedia article or a non-scientific journal (i.e. Time, Vogue, Cosmopolitan, The New Yorker, etc).
4. Please do not plagiarize as that will result in an automatic F on the assignment. You also may not directly quote text. Please remember your plagiarism tutorial.
5. You must submit this online either in .DOC, .DOCX, or .PDF format. No other format will be allowed.
How do you pick the gene?
1. Every student in this class must pick a different gene. In order to claim your gene first, you must email me. I will use date/time stamp. I will respond and tell you if you can use that gene or not.
2. You may not use Sickle Cell Disease since that is what we have covered in this unit.
3. To help you, Wikipedia has a list of every genetic disorder known to man:
https://en.wikipedia.org/wiki/List_of_genetic_disorders
(Links to an external site.)
(opens an external site)
4. Advice, before you just randomly pick a disease, take the time to read up a little bit about it. You could also pick a disease that maybe a family member or friend has and research more on that topic.
Start your search at the Online Mendelian Inheritance in Man (OMIM)
(Links to an external site.)
site. Type your search term, found at the Wikipedia list of genetic diseases
(Links to an external site.)
, into the search field located near the top of the screen, in the gray bar after “Search OMIM for”. vYou can type in either a known genetic disease, from the Wikipedia list of all of the genetic diseases
(Links to an external site.)
, or just the name of a protein or phenotype you are interested in. You should get a long list of database entries that include your search term. Click on the number on the left that is next to the result that looks most promising.
The descriptions in the databases sometimes get a little technical with many medical terms, so the following medical dictionaries might be helpful – Medterms Medical Dictionary Index,
(Links to an external site.)
and Webster’s Medical Dictionary
(Links to an external site.)
.

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