Functional Genomics Research Assignments:
Genetics and the Pathophysiological Basis of Disease
Welcome to the Functional Genomics Research Assignments. In this activity, you will explore the Physiology
and Functional Genomics as it relates to human disease.
Objectives:
1) Learn to use literature searches.
2) Understand the complexity and physiological basis of diseases of genetic origin.
3) Explore and understand accepted treatment options.
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).
Requir
ements:
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 HarrisonÂ’s Textbook of Medicine, or GanongÂ’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.