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Assignment Topic: Bartter’s Syndrome and Gitelman’s Syndrome
In this activity, you will independently on your own explore the Physiology and Functional Genomics as it relates to human disease.
Procedure: For each disease, you will write a short (no more than 1000 words total) addressing each of the following. Each of these questions can be addressed sufficiently in one paragraph (250 words or less for each question).
1) What is the genetic basis of the disease?
2) What is the molecular basis of the disease? (what is abnormal at the cellular, biochemical, or molecular level?)
3) What are the physiologic implications of the disease? (what is abnormal about the physiology of people with this disease?)
4) What are the treatment options?
NOTE: An important objective of this exercise is to find reliable information that is pertinent to your needs. You could start with standard textbooks, such as Harrison’s Textbook of Medicine, Ganong’s Review of Medical Physiology. However, one disadvantage of relying solely on this approach is that textbooks are rarely current. After gathering general information, consult reliable information online. There are several sites which exist for the purpose of teaching, beyond merely Wikipedia. For example, see http://www.ncbi.nlm.nih.gov/disease. Another excellent resource is PubMed, the national repository of all peer-reviewed medical literature. In PubMed, you will be able to find both primary literature and reviews which will be useful. This site is accessed through the National Library of Medicine, and can be found at:
http://www.ncbi.nlm.nih.gov/pubmed.
References:
All assignment submissions should include references/citations of the source. APA (American Psychological Association) style is most commonly used to cite sources within the social sciences. Your reference list should appear at the end of your paper. It provides the information necessary for a reader to locate and retrieve any source you cite in the body of the paper. Each source you cite in the paper must appear in your reference list; likewise, each entry in the reference list must be cited in your text
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