Difference between revisions of "Task diseaseInfo"
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| − | * For the disease that we have assigned to you, look up the diesease in |
+ | * 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). |
* Document the resources you have found in this Wiki (resources section). |
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* Produce a 5 min presentation for our first practical session. |
* Produce a 5 min presentation for our first practical session. |
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| − | * Document the information about the disease in [[Protein Structure and Function Analysis (SS |
+ | * 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 |
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| + | ** see [[Metachromatic leukodystrophy]] for an example protein (unfinished) |
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* 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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** Biochemical disease mechanism. |
** Biochemical disease mechanism. |
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| + | ** Info about the gene and inheritance. |
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** Current knowledge about mutations associated with the disease. |
** Current knowledge about mutations associated with the disease. |
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| + | * '''Try to find connections''' between your data, e.g. |
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| + | ** How are the symptoms related? |
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| + | ** Why does a defect in that gene cause the observed phenotype? |
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| + | ** How does the treatment improve the phenotype? |
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| + | ** Could you imagine any other treatment? Why might it not work? |
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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?
