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European Friedreich's Ataxia Consortium for Translational Studies

Objective

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.

Call for proposal

FP7-HEALTH-2009-single-stage
See other projects for this call

Coordinator

UNIVERSITE LIBRE DE BRUXELLES
Address
Avenue Franklin Roosevelt 50
1050 Bruxelles
Belgium
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 1 144 580
Administrative Contact
Massimo Pandolfo (Prof.)

Participants (14)

UNIVERSITAETSKLINIKUM AACHEN
Germany
EU contribution
€ 727 000
Address
Pauwelsstrasse 30
52074 Aachen
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Volker Legewie (Mr.)
KATHOLIEKE UNIVERSITEIT LEUVEN

Participation ended

Belgium
Address
Oude Markt 13
3000 Leuven
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Elke Lammertyn (Dr.)
FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO BESTA
Italy
EU contribution
€ 216 000
Address
Via Giovanni Celoria 11
20133 Milano
Activity type
Research Organisations
Administrative Contact
Francesca Grechi (Dr.)
MEDIZINISCHE UNIVERSITAT INNSBRUCK
Austria
EU contribution
€ 64 800
Address
Christoph Probst Platz 1
6020 Innsbruck
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Sylvia Boesch (Prof.)
UCL Elizabeth Garrett Anderson Institute for Women’s Health
United Kingdom
EU contribution
€ 373 184
Address
Gower Street
WC1E 6BT London
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Priscilla Padroni (Ms.)
IMPERIAL COLLEGE OF SCIENCE TECHNOLOGY AND MEDICINE
United Kingdom
EU contribution
€ 561 508
Address
South Kensington Campus Exhibition Road
SW7 2AZ London
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Michael G Robinson (Mr.)
BRUNEL UNIVERSITY LONDON
United Kingdom
EU contribution
€ 665 912
Address
Kingston Lane
UB8 3PH Uxbridge
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Teresa Waller (Ms.)
MEDICAL RESEARCH COUNCIL
United Kingdom
EU contribution
€ 559 000
Address
North Star Avenue Polaris House 2 Floor David Phillips Building
SN2 1FL Swindon
Activity type
Research Organisations
Administrative Contact
John Wills (Mr.)
THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD
United Kingdom
EU contribution
€ 398 000
Address
Wellington Square University Offices
OX1 2JD Oxford
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Adina Henson (Ms.)
AGENCIA ESTATAL CONSEJO SUPERIOR DE INVESTIGACIONES CIENTIFICAS
Spain
EU contribution
€ 470 980
Address
Calle Serrano 117
28006 Madrid
Activity type
Research Organisations
Administrative Contact
Carlos Manuel Abad Ruiz (Mr.)
CENTRE EUROPEEN DE RECHERCHE EN BIOLOGIE ET MEDECINE
France
EU contribution
€ 530 500
Address
Rue Laurent Fries 1
67404 Illkirch Graffenstaden
Activity type
Research Organisations
Administrative Contact
Steve Brooks (Dr.)
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
EU contribution
€ 102 915
Address
Rue De Tolbiac 101
75654 Paris
Activity type
Research Organisations
Administrative Contact
Mihaja Auguste (Ms.)
REPLIGEN CORPORATION
United States
EU contribution
€ 115 000
Address
Seyon Street 41
02453 Walyham
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Barbara Veresh (Ms.)
SERVICIO MADRILENO DE SALUD
Spain
EU contribution
€ 54 000
Address
Plaza Carlos Trias Bertran 7
28020 Madrid
Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Administrative Contact
Ana Coloma-Zapatero (Mrs.)