Month / février 2022

February 28th  2022 – Rare Disease Day. There are over 300 million people around the world living with a rare disease, 50% who are children. 72% of the 7000 diagnosed rare conditions are genetic diseases. Accurate diagnosis and opportunities for treatment remains an issue for many. Today we want to raise awareness for MCOPS12 which is an ultra-rare genetic neurological disease affecting only 50 children worldwide. Today is the day to show our strength as…

Dear followers and supporters of Cure MCOPS12, we are happy to share some groundbreaking progress on understanding the mechanism of MCOPS12. Prof. Taylor´s team from the University of Basel was able to generate induced pluripotent stem cells (iPSCs) from Simon´s blood cells and differentiate them into the specific type of neuron cells which cause MCOPS12. Having established such a disease model in the laboratory (in vitro), we are now able to study and hopefully to…