Difference between revisions of "Task diseaseInfo"

Revision as of 11:15, 30 March 2012

For the disease that we have assigned to you, look up the diesease in Wikipedia, OMIM, HGMD and any other resource you find.
Document the resources you have found in this Wiki (resources section).
Produce a 5 min presentation for our first practical session.
Document the information about the disease in this Wiki: Create a link in section Diseases.
- see Example/Template for a suggestions how to structure the information
- see Metachromatic leukodystrophy for an example protein
Here is a minimal list of aspects to look for:
- Phenotypic description of the disease.
- Biochemical disease mechanism.
- Info about the gene and inheritance.
- Current knowledge about mutations associated with the disease.
Try to find connections between your data, e.g.
- How are the symptoms related?
- Why does a defect in that gene cause the observed phenotype?
- How does the treatment improve the phenotype?
- Could you imagine any other treatment? Why might it not work?

@@ Line 8: / Line 8: @@
 ** Phenotypic description of the disease.
 ** Biochemical disease mechanism.
+** Info about the gene and inheritance.
 ** Current knowledge about mutations associated with the disease.
 * '''Try to find connections''' between your data, e.g.