The team “Fundamental and pathophysiological mechanisms involved in ataxias” directed by Hélène Puccio has been awarded a EJPRD Joint Translational « Pre-clinical research to Develop Effective Therapies for Rare Disease» grant for the project: ” TREAT-ARCA : Designing a toolbox of paradigmatic treatments for a targeted molecular medicine approach to autosomal recessive ataxias ”.

Autosomal-recessive cerebellar ataxia (ARCA) is a heterogeneous group of rare neurodegenerative genetic diseases that share the common hallmark of progressive damage to parts of the nervous system that coordinate movement, such as the cerebellum. Despite its devastating consequences in daily life on mobility and communication and reduced life span, no disease-modifying treatment is available for these disabling disorders. TREAT-ARCA aims at designing and testing new complementary treatment strategies, including both repurposed and newly identified molecules, as well as gene therapies in two exemplary multisystemic flagship ARCAS: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and COQ8A-ataxia (ARCA2). In addition, leveraging cross-species cross-tissue OMICS approaches, TREAT-ARCA aims at discovering and validating biomarkers that will enable to follow treatment and bridge the gap to patient biofluids. The projects specifically developed in the team will be focused on COQ8A-ataxia, with repurposed-drug and gene therapy strategies.

This project is a collaboration between the teams of Hélène Puccio (INMG, FR), Matthis Synofzik (University of Tubingen, DE), Bernard Brais (McGill University, CA) and Francesca Maltecca (San Raffaele Scientific Institute, IT).
If you are interested in joining the project as a post-doctoral fellow or PhD student, please do not hesitate to contact us (helene.puccio@univ-lyon1.fr).