Task diseaseInfo

From Bioinformatikpedia
  • 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?