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European Friedreich's Ataxia Consortium for Translational Studies

Objetivo

EFACTS (the European Friedreich’s Ataxia Consortium for Translational Studies) assembles a body of expertise to adopt a translational research strategy for the rare autosomal recessive neurological disease, Friedreich’s ataxia (FRDA). FRDA is a severely debilitating disease that leads to loss of the ability to walk and dependency for all activities. Some patients have cardiomyopathy that can cause premature death, visual and auditory loss, kyphoscoliosis, pes cavus, diabetes. Onset is usually in childhood, but it may vary from infancy to adulthood. FRDA involves child health and ageing aspects. FRDA affected individuals and clinical specialists are dispersed. This is a hindrance for patients to receive the care they need, and for clinicians and researchers to make progress. EFACTS has been created to move past this limitation. EFACTS strongly believes that, 12 years after European researchers discovered the FRDA gene, frataxin, when new treatments for FRDA are being developed, the time is ripe to invest in FRDA research in a concerted Europe-wide fashion. EFACTS gathers the critical mass of researchers and clinicians to exploit the patient base, research reagents and knowledge for progress. This comes when IT can act as a crucial support for collaborative work in collecting patient data and material, making it available to leading researchers for advanced analysis, research and drug development. This project proposal has the following scientific and technological objectives: 1. Comprehensively populate a European FRDA database, linked to a bio bank; 2. Define a panel of clinical assessment tools; 3. Build on the knowledge base of frataxin structure and function; 4. Build on the knowledge base of the pathogenic cascade; 5. Build on the knowledge base of epigenetic mechanisms of frataxin silencing; 6. Develop new cellular and animal models for the study of FRDA; 7. Identify FRDA biomarkers; 8. Identify genetic modifiers of FRDA; 9. Develop therapeutics for FRDA.

Ámbito científico

CORDIS clasifica los proyectos con EuroSciVoc, una taxonomía plurilingüe de ámbitos científicos, mediante un proceso semiautomático basado en técnicas de procesamiento del lenguaje natural.

Programa(s)

Tema(s)

Convocatoria de propuestas

FP7-HEALTH-2009-single-stage
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Régimen de financiación

CP-FP - Small or medium-scale focused research project

Coordinador

UNIVERSITE LIBRE DE BRUXELLES
Aportación de la UE
€ 1 144 580,00
Dirección
AVENUE FRANKLIN ROOSEVELT 50
1050 Bruxelles / Brussel
Bélgica

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Región
Région de Bruxelles-Capitale/Brussels Hoofdstedelijk Gewest Région de Bruxelles-Capitale/ Brussels Hoofdstedelijk Gewest Arr. de Bruxelles-Capitale/Arr. Brussel-Hoofdstad
Tipo de actividad
Higher or Secondary Education Establishments
Contacto administrativo
Massimo Pandolfo (Prof.)
Enlaces
Coste total
Sin datos

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Última actualización: 28 Marzo 2022

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Permalink: https://cordis.europa.eu/project/id/242193/es

European Union, 2025