Objective
Cardio-facio-cutaneous syndrome, Costello syndrome and SYNGAP1-related encephalopathy are rare neurodevelopmental RASopathies manifesting with severe intellectual disability, seizures and autism spectrum disorder. These symptoms are underdiagnosed and lack approved therapeutic options. EURAS aims to develop new effective therapies and operative disease management for RASopathies. With strong support of patient organizations from 13 countries, a new patient report-based registry for stratification of patient cohorts and evaluation of treatments will be implemented. To clarify the pathophysiology of RASopathies and to identify cellular/molecular “disease signatures” as biomarkers for drug screening and for therapy validation, EURAS will generate new and employ existing disease models. Phenotypical screenings of drug libraries assisted by automated high-resolution, high-content pipelines will be conducted on differentiated, electrically active patient iPSC-derived neurons. Preclinical proof-of-concept trials with repurposed drugs, antisense oligonucleotides and motor-cognitive training will be performed to achieve reversal of seizures and autistic behavioural traits in animal models. To provide patients with less invasive treatments, new technologies for efficient drug delivery of treatments to the brain will be developed and validated. Finally, EURAS establishes Europe-wide patient association to improve awareness and exchange between affected families and to foster their access to knowledge and therapies. With all these measures, EURAS delivers new effective therapies and set the frame for early and accurate diagnosis of neurological symptoms in RASopathies, which are not available at present. Moreover, some results of EURAS will be widely transferable, fostering development of therapies even for unrelated diseases. Thus, EURAS will sustainably improve the lives of affected people and strengthen expertise of health systems in Europe and worldwide.
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HORIZON-RIA - HORIZON Research and Innovation ActionsCoordinator
91054 Erlangen
Germany
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Participants (14)
47805 KREFELD
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5020 Salzburg
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39106 Magdeburg
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29016 Malaga
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1000-043 Lisboa
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89081 Ulm
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75794 Paris
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20014 Turku
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3015 GD Rotterdam
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80539 Munchen
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1210 Wien
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69117 Heidelberg
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53175 Bonn
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
66386 St Ingbert
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The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed.
Partners (1)
Partner organisations contribute to the implementation of the action, but do not sign the Grant Agreement.
EH8 9YL Edinburgh
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