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BLOG

Diagnosis Matters!

6/2/2017

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#RareDiseasesNews: A little boy was undiagnosed until the age of 4 and then in 1 day a geneticist solved a great puzzle. A new syndrome was discovered and a family finally got some answers.
There are still no therapies, the syndrome does not even have a name yet, but the diagnosis gave the family some confort and a path to follow! 
#DiagnosisMatters! 
Read the full story HERE 
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©2017 CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN)
  • About
  • Research
    • WP1 executive commitee
    • WP2 CDG Diagnosis
    • WP3 CDG Genetics
    • WP4 Biology to guide CDG therapies >
      • GlycoImmunology >
        • ImmunoCDGQ
      • Cardioendocrine
      • Liver
      • Neurology
      • Hematology
      • Ophtalmology
      • Skeletal Disease
    • WP5 SYSTEMS BIOLOGY AND BIOINFORMATICS >
      • Biomedical
      • Computational
      • Metabolomics
      • Systems Biology
    • WP6 CLINICAL AND THERAPEUTIC CDG RESEARCH >
      • Patients
      • Pharmacological
      • CDG ​Portugal
    • WP7 CDG psychology and educational research >
      • Psychology
      • Educational
      • Language
    • WP8 CDG Lobby and Representation >
      • Patient-Centered Care
      • Patient Representative
    • WP9 Communication and Dissemination >
      • Eva Morava
      • Jaak Jaeken
      • Paula Videira
      • Andrea Berarducci
      • David Cassiman
      • Bobby Ng
      • Sandro Bellinzis
    • WP10 Donations & Funds
    • WP11 Collaborations and Open positions
    • WP12 CDG & Allies Community Advisory Committee
  • Resources
  • Donate
  • Blog