Research Updates

Rare Disease Day: Great News + Awareness

The presentation above was delivered and recorded at the Arya Foundation’s 2020 Disability Awareness Convention on 02/23/2020. Complex topics like genetics are difficult to simplify. It is even more difficult to explain rare conditions that the medical community has not recognized before. Therefore, we hope to create understanding and awareness on behalf of those affected with rare disease(s). Hopefully the presentation is educational for all.

Each year, the last day of February is celebrated as Rare Disease Day (#rarediseaseday). Instead of staring, we ask that you please stop to say “Hi!” to someone with a disability. Be patient, get to down to their level and calmly wait for a response – we promise you’ll get one! The response may not be a verbal one. In that individual’s own special way, they’ll reply. Additionally, it will not only brighten their day, but your gesture will bring a smile to the individual who cares for them day-in and day-out. You’ll walk away with a smile on your face, too!


In honor of today, we are thrilled to share some very exciting news! Last week, we received an email from a gene repository (or database) called “GeneMatcher” where those with rare gene mutations/rare genetic diseases have their abnormal genetic information uploaded. If a “match” is recognized, those that are entered in the database with that same gene mutation will receive an email (dependent on the point of contact listed, respectively) indicating that a “match” has been identified. EXCITINGLY, WE DISCOVERED A MATCH! We received an email and information about another child affected by a CAMSAP1 gene mutation, bringing the total number of recognized/documented individuals worldwide with near identical medical conditions to just FIVE (5)!

Assuming that the estimated population of the world is 7.7 billion people, that means that only 0.00000007142% of the world population is affected! THAT’S RARE COMPANY! To put that in perspective:

  • You have a greater chance of being struck by lightning TWICE (1 in 9 million)
  • You have a great chance, albeit 0.000000342%, of winning the POWERBALL (1 in 292,201,228)


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