Our Story
Soon after their son Simon was born in 2017, Edith and Reinhard Pell knew that something was wrong. Simon was born with microphthalmia and, in the first months of his life, failed to reach any developmental milestones. In their search for answers, Simon underwent genetic testing, which revealed a mutation in the RARB gene—causing a disease known as syndromic microphthalmia 12 (MCOPS12). A severe neurodevelopmental disorder so rare that only 20 patients at the time were known worldwide.
No options for a treatment, and no hope.
Reinhard and Edith refused to accept the status quo. Driven by determination, they founded the non-profit organization Cure MCOPS12, establishing a global scientific network and funding research to decode this complex disease. In 2023 they started their project of a lifetime - developing a patient-customized RNA therapy for Simon to silence the underlying mutation. With a dream to create a better and brighter future - not only for their son, but for all MCOPS12 patients around the world.
A Personalized Medicine for Simon
Pioneering RNA Therapies for MCOPS12
Simon's personalized antisense oligonucleotide (ASO) therapy In collaboration with a biotech partner in the US and scientists in France and Canada, we are developing an ASO therapy to selectively silence Simon´s pathogenic mutation in the RARB gene. In a tremenduous effort, we identified six efficacious and safe ASO candidates in a cellular disease model. We are now entering the last and crucial step - performing a toxicity study to identify the safest ASO for Simon. Though this drug is tailor made to Simon, the development concept is amenable to other MCOPS12 patients.
With your support, we are moving closer to a life-changing therapy. Every donation makes a difference.
Donations
250.000
Cure MCOPS12 partners with
