top of page
Lena was born on Sep 2021. She has ultra rare mutation in PACS2 gene which undermines her chances for living her life independently, to the fullest. Understanding better PACS2 mutation mechanism of action will drive treatment development. We are determined to give those chances to 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. 60 known cases around the globe, there are many similarities but each case is different in its own way. Discover our stories.
PARTNERS:
bottom of page