Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.
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Project Coordinator
Partners
Jeroen Pasterkamp | Brain Center Rudolf Magnus | Utrecht , The Netherlands |
Michela Deleidi | DZNE | Tübingen, Germany |
Philip Van Damme | KU Leuven | Leuven, Belgium |
Stefano Stifani | Montreal Neurological Institute | Montreal, Canada |
Amyotrophic Lateral Sclerosis (ALS) is a rare group of neurological diseases with a tremendous burden on patients and their families, as well as a significant impact on society. ALS is characterized by progressive upper and lower motor neuron (MN) loss due to both cell autonomous and non-autonomous death mechanisms that are largely unknown. Understanding these mechanisms is crucial for developing therapeutics because of the lack of effective treatment for ALS. Based on our previous data showing the role of glial toxicity on MN pathology, we hypothesize that the risk for ALS is associated with alterations in immune and energy metabolism genes/pathways. The main goal of this proposal will be to unravel the role of immune and cell metabolism in ALS pathophysiology by applying integrated multi-omics approaches in relevant ALS models based on induced pluripotent stem cell (iPSC) 2/3D models (mini-brain/spinal cord). To this end, we will: 1) generate and characterize iPSC differentiated cells (MNs and glia) from familial ALS (TDP43/C9) subjects with different clinical phenotypes as well as isogenic (corrected) controls; 2) apply omics approaches (genomic, transcriptomic, proteomic and metabolomic) in ALS-iPSC systems; 3) validate candidate genes/pathways and assess their potential therapeutic role in cell-based platforms. This project involves academic partners with solid expertise in ALS, iPSC technology and omics. This unique combined international effort will allow assessing the role of energy metabolism and immune pathways in ALS pathogenesis and as therapeutic targets.
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For more information ABOUT E-Rare please contact:
E-Rare Coordinator
Daria JULKOWSKA
Tel.: +33(0) 1 78 09 80 78
+33(0) 6 20 14 13 81
daria.julkowska@agencerecherche.fr
Agence Nationale de la Recherche - ANR
Health & Biology Department
50 Avenue Daumesnil
75012 Paris, France