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EFACTS

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European Friedreich s Ataxia Consortium for Translational Studies

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 (FR... see more

30/04/2015

ULB

8M€

Project Budget: 8M€

Project leader

UNIVERSITE LIBRE DE BRUXELLES No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

PARTICIPATION DEPralty Sin fecha límite de participación.

Ver 15 Participantes

Financing granted El organismo FP7 notifico la concesión del proyecto The day 2015-04-30 We do not have the information of the call

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characteristics of the participant

Este proyecto no cuenta con búsquedas de partenariado abiertas en este momento.

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15 Participantes

ULB

0.00€ | Leader

KU Leuven

N.D. | participant

NC3Rs

N.D. | participant

UOXF

N.D. | participant

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Project leader

UNIVERSITE LIBRE DE BRUXELLES No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5

Project Budget 8M€

participation deadline Sin fecha límite de participación.

Project description 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.

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