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Face to face: Gaucher Disease

Some months ago, I wrote about Pompe disease, a rare, but important genetic disorder. I wanted to build awareness on the diagnostic delay, the cause of many misdiagnoses. Now, here is an other outstanding project about Gaucher disease. First, an excerpt from the Wikipedia article:

Gaucher’s disease is the most common of the lysosomal storage diseases. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions…

A journal-blog called Face to face, My journey for the Gaucher Initiative says:

Through this journal I will be documenting my journey to meet the faces behind the Gaucher Initiative, a humanitarian program that provides Gaucher patients in developing countries with the enzyme replacement therapy, Cerezyme, free of charge. I have the rare opportunity to meet with patients and their families to see how the Gaucher Initiative has and continues to affect their lives.


Inspirational stories! Check it out for more!

2 Comments Post a comment
  1. Hi
    Regarding Nature precedings, I wrote also a post.
    If anyone is interesting with the “open access” publishing I gave in another post a link to the “open access directory”.

    July 1, 2007
  2. How many years do they need to make the project work, I don’t even say about finances…

    July 2, 2007

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