A Call for Rare Facts Unity & Consistency

It’s Our Opinion …

I presented this poster at the NIH’s Rare Disease Day event earlier this week (2/27/17).  In short, to maximize impact and credibility, we are asking all organizations – government, advocacy, industry/pharma, academia, etc. to be consistent with their public sharing of Rare Disease facts.

I realize that sometimes we must be very scientific about things, but for basic Rare Disease awareness, where there are no absolute numbers, we need to be consistent in order to be most credible and impactful.

We suggest that this should be our common voice with regard to Rare Disease Facts:

  • 7,000+ rare diseases
  • over 80% of Rare Diseases are genetic
  • 1 in 10 have a rare disease … over 30 million Americans, 350m worldwide
  • over 50% of which are children
  • 30% of those children will not live to see their 5th birthday
  • <5% of rare diseases have approved therapies
  • and as of early 2017 only a few hundred rare diseases have therapies … 95% do not have a therapy!

A good source

Global Genes presents a nice summary of these Rare Disease facts, and more,  on their Rare Disease Facts page.

* images source: Global Genes 

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2 thoughts on “A Call for Rare Facts Unity & Consistency

  1. I think newborn screening is very important as it shortens the time our adult children need more intensive care. Some of our loved ones are missed diagnosed and are given a harmful medication for mental illness instead of for mld

    • MLD Foundation is active in five specific NBS efforts:
      1) Developing a newborn screen for MLD … we helped with the science and in launching a pilot study to validate a new approach to MLD screening in WA state.
      2) We are working towards a RUSP application.
      3) Organizing and Hosting the RUSP Roundtable where we are looking at the future of NBS with 2-3 dozen other experts from NIH, state labs, industry, etc.
      4) We suggested the language that RDLA used to pass the NBS legislation in CA that requires CA to implement a screen with two years after being added to the RUSP. We authored that portion of the bill introduced in Oregon and inspired the Florida language as well.
      5) We have attended virtually every SACHDNC meeting for the past 5 or 6 years.

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