- 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.
- 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?