Difference between revisions of "Task diseaseInfo"
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* 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 2012)|this Wiki]]: Create a link in section Diseases. |
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** see [[Example/Template]] for a suggestions how to structure the information |
** see [[Example/Template]] for a suggestions how to structure the information |
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| − | ** 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: |
* Here is a minimal list of aspects to look for: |
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** Phenotypic description of the disease. |
** Phenotypic description of the disease. |
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Revision as of 11:17, 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 (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?
