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A new focus In the EU, a disease is defined as rare if it affects no more than 1 in 2,000 people and similarly in the US it is defined as a condition that affects less than 200,000 people. 1 Despite being referred to as ‘rare’, collectively, there are 6,000 to 8,000 known rare diseases 2 and more than 300 million people around the world are living with one. 3 For these people, living with a rare disease can mean a long wait to receive an accurate diagnosis, less options in terms of care, and many unanswered questions. In order to address this current unmet need, we must bring a new focus to the challenges faced by those with rare diseases.

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