EURAS
Financiado
EUropean network for neurodevelopmental RASopathies
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 a...
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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Duración del proyecto: 47 meses
Fecha Inicio: 2023-06-01
Fecha Fin: 2027-05-31
Fecha Fin: 2027-05-31
Línea de financiación: concedida
El organismo HORIZON EUROPE notifico la concesión del proyecto el día 2023-06-01
Línea de financiación objetivo
El proyecto se financió a través de la siguiente ayuda:
Presupuesto
El presupuesto total del proyecto asciende a
8M€
Líder del proyecto
UNIVERSITATSKLINIKUM ERLANGEN
No se ha especificado una descripción o un objeto social para esta compañía.
Perfil tecnológico
TRL
4-5
Perfil tecnológico
TRL
4-5