In this activity, you will independently (on your own) explore the Physiology and Functional Genomics as it relates to the human disease: Pompe Syndrome.
Objectives:
Understand the complexity and physiological basis of diseases of genetic origin.
Explore and understand accepted treatment options or future treatment strategies.
Learn to use literature searches.
Develop writing skills to clearly and concisely explain the pathophysiology of disease.
Task:
You will write an essay (1000 words) addressing each of the following.
What is the genetic basis of the disease?
What is the molecular basis of the disease? (What is abnormal at the cellular, biochemical, or molecular level?)
What are the physiologic implications of the disease? (What is abnormal about the physiology of people with this disease?)
What are the current treatment options or the development strategies for therapy?
Requirements
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/omim. 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 (Links to an external site.).
Once you have found your sources, be sure to document them in your assignment. Each new piece of information must be cited in the text and referenced at the end of your assignment. APA or AMA format is acceptable. An example of this can be found below:
Increasing genetic expression of beneficial components of the renin-angiotensin system, may be a novel therapeutic approach in the treatment of myocardial infarction. (1,2)
Qi Y, Li H, Shenoy V, Li Q, Wong F, Zhang L, Raizada MK, Sumners C, Katovich MJ. Moderate cardiac-selective overexpression of angiotensin II type 2 receptor protects cardiac functions from ischaemic injury. Exp Physiol. 2012 Jan; 97(1):89-101.
Qi Y, Shenoy V, Wong F, Li H, Afzal A, Mocco J, Sumners C, Raizada MK, Katovich MJ. Lentivirus-mediated overexpression of angiotensin0(1-7) attenuated ischaemia-induced cardiac pathophysiology. Exp Physiol. 2011 Sep; 96(9):863-74.
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