Why is it important and interesting to do research about this disease ?
It’s important to pay interest to MOMIC because children with this disease suffer from an illness that is neither known nor recognized, and no research program dedicated to this disease has been set up in France or in the rest of the world apart from the one we have been developing for a few years.
On the scientific level, there is also a major interest in uncovering the mystery of this disease. Indeed, MOMIC patients constitute a very unique paradigm of loss of the coordination function of both hands. They can teach us a lot about this function, which is so important for our daily actions and how it is set up during the development of the nervous system. Our project is divided into three main objectives :
1) Discover new genes associated with mirror movements • Recruitement of new patients • Identification of new genes by exome analysis of patients with mirror movements and with no known mutation in one of the three genes already identified in the syndrome•
2) Demonstrate the unexpected implication of RAD51 in the development of the corticospinal tract • In vitro analysis of the impact of RAD51 mutations on the activity and subcellular localisation of the protein, and also on the cerebral cortex neurons morphology• In vivo analysis of the expression of the different RAD51 mutations on the corticospinal tract development • Research of molecular and cytoplasmic partners of RAD51•
3) Show the role of Dcc/Netrin 1 pair in the corticospinal tract crossing the midline and its role in the laterisation of motor control in mice • Demonstrate the impact of the specific deletion of Netrin 1 at the level of the brainstem midline • Show the non cell-autonomous mecanism of DCC which allows the guidance of the corticospinal tract at the level of the pyramidal decussation.
We need your help
By participating to research, you help us to develop all the three aspects of this project. If you want to participate, please fill out the contact form below and we will answer you in return.