Canavan Disease 2012

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Revision as of 13:26, 18 April 2012 by Vorbergs (talk | contribs) (Classification)

Coming soon. Until then, go read some poetry!


Ent:

When spring unfolds the beechen leaf, and sap is in the bough

when light is on the wild-wood stream, and wind is on the brow

when stride is long, and breath is deep, and keen the mountain air

come back to me! Come back to me! And say my land is fair.

(Tolkien)

Summary

Phenotype

Phenotypic description of the disease.

(Describe this in your own words, avoid plagiarism. Summarise the information from different sources.)

Classification and Types

Leuko

Heredity

geno


Biochemical disease mechanism

The example protein is involved in the example pathway...

Ideally, include a graphical pathway representation like this one:

Sphingolipid Metabolism (source: KEGG) highlighting disease associated enzymes

(see above: own words, no plagiarism)


Cross-references

  • link to KEGG
  • link to MetaCyc

... see databases in "resources"

Mutations

Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations. -- These sequence pages will be the starting point for collecting prediction results and result discussions.

Note: Until further notice you only need to care about the reference sequence pages. -- At a later stage we will assign mutations we expect you to work on. Then, it will make sense to create on page per mutation that is assigned to you.

Reference sequence

Which sequence does not cause the disease and is most often found in the population.

Neutral mutations

Disease causing mutations

Diagnosis

  • prenatal: NAA, mut ana
  • postnatal: NAA, neuroimg, mut ana