Difference between revisions of "Task diseaseInfo"

Latest revision as of 13:25, 21 February 2013

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: Fill the link in section Diseases.
- see Example/Template for a suggestions how to structure the information
- see Metachromatic leukodystrophy for an example protein (unfinished)
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 2: / Line 2: @@
 * 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 [[Protein Structure and Function Analysis (SS 2012)|this Wiki]]: Create a link in section Diseases.
+* Document the information about the disease in [[Protein Structure and Function Analysis (SS 2013)|this Wiki]]: Fill the link in section Diseases.
 ** see [[Example/Template]] for a suggestions how to structure the information
-** see [[Metachromatic leukodystrophy]] for an example protein
+** see [[Metachromatic leukodystrophy]] for an example protein (unfinished)
 * Here is a minimal list of aspects to look for:
 ** Phenotypic description of the disease.