An Update from Reinhard – February 2022

Dear followers and supporters of Cure MCOPS12,

We are happy to share some groundbreaking progress on understanding the mechanism of MCOPS12. Professor 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 completely understand the disease on the most detailed level. The generated neuron cells can be regarded as a complementary model to the already established mouse model carrying the RARB gene mutation.

Both models will be used to elucidate the pathogenic mechanism of MCOPS12 which will give us new and extremely valuable insights for both finding new drugs for symptom treatment and approaches using gene therapy to cure MCOPS12.

Interested readers are referred to the attached background information on generating iPSCs and differentiating them into in vitro neuron cells.

Kind regards,


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