Obiettivo
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.
Campo scientifico
Argomento(i)
Invito a presentare proposte
FP7-HEALTH-2009-single-stage
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Meccanismo di finanziamento
CP-FP - Small or medium-scale focused research projectCoordinatore
1050 Bruxelles / Brussel
Belgio
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Partecipanti (14)
52074 Aachen
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Partecipazione conclusa
3000 Leuven
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20133 Milano
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6020 Innsbruck
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WC1E 6BT London
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SW7 2AZ LONDON
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UB8 3PH Uxbridge
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W1B 1AL LONDON
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OX1 2JD Oxford
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28006 Madrid
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67404 Illkirch Graffenstaden
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75654 Paris
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02453 WALYHAM
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28046 MADRID
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