Fundaments

In this activity, you will explore Physiology and Functional Genomics as it relates to the human disease: nephrogenic diabetes insipidus.

Procedure: For each disease, you will write a short paper (no more than 1000 words total) addressing each of the following:

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?

Each of these questions can be addressed sufficiently in one paragraph (250 words or less for each question).

Resources 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, or Ganong’s Review of Medical Physiology. An excellent array of textbooks is available to you through the UF library. A disadvantage of relying solely on this approach, however, is that textbooks are rarely current. After gathering general information, you might wish to consult reliable information on the world-wide web. There are several sites which exist for the purpose of teaching. For example, see

http://www.ncbi.nlm.nih.gov/disease

Another great place to start, however, is the national repository of all peer-reviewed medical literature (since 1966), PubMed. This site is accessed through the National Library of Medicine, and can be found at the following site:

http://www.ncbi.nlm.nih.gov/pubmed

In PubMed, you will be able to find both primary literature and reviews which will be useful.