Soon after Edith and Reinhard Pell's son Simon was born in 2017, they knew something was wrong. Simon had to stay in the ICU for several weeks and then they eventually learned that Simon has microphthalmia.
Some months after they received the results from genetic testing - Simon was diagnosed with a mutation in the RARB gene causing a disease called Microphthalmia Syndromic 12 (MCOPS12). A neurological and severely debilitating disorder so rare that only 20 patients at the time were known to have it worldwide.
Due to the rarity of this disease, there is very limited information and no treatment at all. That's what led the Pell Family to establish this non-profit organization, Cure MCOPS12. With a dream to create a better and brighter future for not only their son, but for all MCOPS12 patients in the world.
What is Cure MCOPS12?
Cure MCOPS12 is a registered nonprofit organization dedicated to improve the lives of children and families affected by MCOPS12. MCOPS12 is an ultra-rare neurological disease caused by a mutation in the retinoic acid receptor beta (RARB) gene. Common symptoms include microphthalmia, severe movement disorders and variable intellectual disability.
Our mission is to raise awareness and fundraising to support scientific research and drug development that will ultimately result in a cure.
How Can You Help
Together we can find a treatment and eventually a cure for MCOPS12! You can do this by helping us to raise awareness about MCOPS12 and by donating, which enables Cure MCOPS12 to support essential scientific research and drug development that will ultimately result in a cure.
Here’s to another week of incredible progress and our heartfelt gratitude! We extend our deepest thanks to the extraordinary community …