Sie sind schwer zu diagnostizieren, verlaufen fast immer chronisch, führen häufig zu dauerhaften Beeinträchtigungen, und sind meistens nicht heilbar: Seltene Erkrankungen sind für Betroffene fraglos ein Schicksal. Oft wird dieses noch dadurch erschwert, dass es, eben weil die Krankheiten so rar sind – laut EU-Definition kommen sie bei nicht mehr als fünf von 10.000 Menschen vor –, nur wenige Therapien gibt, um sie zu behandeln: Ihre Erforschung erscheint vielen Arzneimittelherstellern als wenig lukrativ, dafür aber mit erheblichen Risiken verbunden.
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