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Lena has ultra rare mutation in PACS2 gene which undermines her chances for living her life independently, to the fullest. There is HOPE for treatment development.
We drive it.
For Lena & all children affected by PACS2 syndrome.
PACS2 syndrome

Unique, single variant mutation.

The phenotype characterized with: varying degree of cerebellar dysgenesis and facial dysmorphism, intellectual disability from mild to severe with or without autism and neonatal epilepsy of different types. Learn more.

PACS2 foundation

Our research foundation aims to drive treatment development for PACS2 syndrome.

Learn more about
our roadmap!

PACS2 people

Among ca. 100 known cases around the globe, there are many similarities but each case is different in its own way. Discover our stories.



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