AESHA is co-financing the AHC-MOME-IT project (Molecular Mechanisms in AHC), directed by Dr. Fiorella Gurrieri, along with the Italian association .AISEA Onlus.
The aims of the project are the following:
1 To create „in vitro“ neuronal cells with AHC-specific mutations in their ATP1A3 genes (AHC neurons).
2 The platform described in point 1 will then be used to study precisely this specific molecular defect in the functioning of the ATP-ase pump in these AHC-neurons (molecular pathogenesis).
3 Then, we intend to test the „in vitro“ effect of AHC-neurons with different compounds / molecules that may be effective in correcting this defect.
If any of the compounds tested in the „in vitro“ model is effective, the next step will be the testing in patients, through therapeutic trials.
AESHA is confident that this project will help us in the task of understanding the mechanisms underlying this disease