EFACTS: European Friedreich's Ataxia Consortium for Translational Studies

Dr. Mark Pook (School of Health Sciences and Social Care) and Professor David Gilbert, Professor XiaoHui Liu and Dr. Annette Payne (School of Information Systems Computing and Maths) will join twelve other clinical and basic research groups within Europe, together with one pharmaceutical company in the USA, to undertake a 4-year €6M FP7 collaborative health research project called "EFACTS".

EFACTS (the European Friedreich's Ataxia Consortium for Translational Studies) assembles a body of expertise to adopt a fully translational research strategy applied to the study and treatment of a rare inherited 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 also have cardiomyopathy that can cause premature death, visual and auditory loss, kyphoscoliosis, pes cavus, and diabetes. Onset is usually in childhood, but it may vary from infancy to adulthood. 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 gathers the critical mass of researchers and clinicians to exploit the patient base, research reagents and knowledge for progress. The consortium possesses expertise ranging from clinical neurology, biochemistry, structural biology, systems biology, genetics and epigenetics. This group of clinical and basic investigators are leaders in FRDA research and have provided major contributions to the current knowledge of this disease.

The EFACTS project comes at a time 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 will be coupled to improving the methods of clinical assessment and diagnosis, and the implementation of the first pan-European FRDA database registry, linked to bio banks of patient material. The totality of objectives will provide a model for translational European research targeted to a specific disease, which can ultimately improve the patients' health and quality of life.