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  • I am RARE DISEASE! In the UK I affect 1 in 5000 people... but cumulatively I affect 350 MILLION people worldwide...
  • Making it difficult to diagnose me and therefore to give treatment!
  • There are between 6000-8000 types of rare disease, with varying presentations...
  • 50% of rare disease occurs in children...
  • Without diagnosis, we have reduced prognosis and quality of life...
  • I'm Genomic woman!
  • I'm Epigenomic woman!
  • I'm Transcriptomic man!
  • I'm Proteomic woman!
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