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Those children dream about carefree childhood.
The PACS2 syndrome impacts their journey towards an independent life.

There is HOPE for a cure. We drive it. 
Join us in making a difference in their lives.


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PACS2 syndrome

Neonatal epilepsy, intellectual disability from mild to severe with or without autism, cerebellar dysgenesis - all caused by single point mutation in PACS2 gene.
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PACS2 research

We foster and coordinate international and interdisciplinary collaboration to unravel the mysteries and find a treatment(s) for PACS2 syndrome. 10 projects are underway. Multiple cell lines and animal models are available.

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Advocacy for patients' engagement in research

We strongly belive that contribution made by patient organizations to research on  rare diseases is instrumental. We coordinate research for PACS2. We build community of families engaged in other ultra-rare diseases. We advocate so patient organizations are equal consortium partner.  

We are members of:

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