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Innovating in Rare Diseases

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Rare diseases

There are more than 7,000 rare diseases in the world and 30% of children affected will die before reaching their 5th birthday.
Lysosomal storage disorders are a group of very rare genetic conditions. These hard to diagnose, progressive, life-limiting conditions have, as a group, an estimated frequency of about one in every 50,000 live births.
We are committed to earlier identification and improved lives for people impacted by inherited metabolic diseases