MCOPS12: joint treatment development with an international association

Collaborations |

Syndromic microphthalmia 12 (MCOPS12) is a rare genetic disease causing microphthalmia, as well as significant motor and intellectual disorders. In collaboration with Canadian, Swiss and French scientists, supported by funds from the European Community and the Cure MCOPS12 association, Wojciech Krezel's group is studying the mechanisms of neurodegeneration in this disease, with a the aim of developing a therapeutic strategy.

On Friday March 24, researchers and families of MCOPS12 patients meet at the IGBMC. Credits: MCOPS12 cure

Bringing together different areas of expertise to understand and treat the disease

Begun in 2018, the RAinRARE project brings together four research teams. Its aim? To provide a better understanding of the contribution of the vitamin A receptor, RAR beta (RARβ), to the development of neurodegeneration in MCOPS12.
This collaboration is the result of a meeting between two research groups: that of Wojciech Krezel and that of Jacques Michaud, researcher and director of CHU Sainte-Justine, Canada. The former specializes in studying the mechanisms of action of vitamin A, while the latter has identified mutations in RARβ as causative factors in MCOPS12.
Two other groups have since joined the project: Verdon Taylor's group at the University of Basel, specialized in neurodevelopment and reprogramming of induced stem cells (iPSCs), and Olivier Poch's iCube group, specialized in bioinformatics and big data analysis.
To develop a gene therapy to prevent the development of the disease, "we want to provide a detailed understanding of the mechanisms resulting from RARβ mutations, as well as precise signaling of the development of neurological disorders", says Wojciech Krezel. As part of this project, a database open to researchers and doctors is also being developed.

Cure MCOPS12, an association actively involved in research against the disease

"With 52 MCOPS12 patients identified worldwide, we're probably only seeing the tip of the iceberg," explains Jacques Michaud. The Cure MCOPS12 association brings together patients and their families to spread knowledge about the disease. Its aim is also to mobilize them, enabling them to play an active role in improving understanding of the disease.
"The association not only provides financial support for the research project, it is also a full partner in the development of new knowledge", explains Wojciech Krezel, "In particular, one of its objectives is to contribute to the study of patients' natural history to provide crucial information for a better understanding of the disease". A better understanding of how the disease progresses over time will enable better management of patients, as well as their allocation for future clinical trials.


First meeting between patient association and researchers

On Friday March 24, a tour of the IGBMC and a videoconference were organized between the Cure MCOPS12 association and scientists.
This was "the first opportunity for patients to learn more about the disease, its mechanisms, and current projects and experimental approaches aimed at identifying much-needed treatment strategies", explains Wojciech Krezel.