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Rare diseases in Ireland and in the European context: what plans for the future?

Concluding our month-long series on rare diseases,  to mark Rare Disease Day on February 28, Prof Eileen Treacy of the National Centre for Inherited Metabolic Disorders examines how Ireland’s Rare Disease National Plan will address the diagnosis, prevention, management, treatment and research into rare diseases. A ‘rare disease’ is defined as a life-threatening or chronically debilitating disease affecting no more than five people per 10,000 in the EU. There are an estimated 5,000 to 8,000 known rare diseases affecting up to 6 per cent of the total EU population (at least 30 million Europeans) and perhaps up to 300,000 Irish…