Who we are?
The non-profit organization dedicated to drive treatment development and improve lives of children with ultra rare mutation in PACS2 gene, through scientific research funding. We believe that thanks to our and other similar organizations' work, we will change the reality of people suffering from genetic syndromes and in future dedicated treatment will be widely available for rare conditions.
Privately we are parents of Lena who is impacted by the mutation. You can follow us on Instagram @misja_cud.
The foundation is registered in Warsaw, Poland. Number in Polish National Registry (Krajowy Rejestr Sądowy): 0000970620.
Nevertheless, due to the fact that the mutation is ultra rare and there are children impacted around the globe, we operate worldwide. Currently we are during talks with research centers both in Europe and US.
Our work would not be possible without critical advice from our Scientific Board (learn more).
Our ROADMAP
PACS2 mutation was firstly covered in publication in 2018, still a lot is unknown both on "healthy" and mutated gene mechanism of action. Only ~20 cases are covered in widely available publications to date. Hence, our first steps concern:
- filling the knowledge gaps on PACS2 gene role and PACS2 mutation impact on human organism (basic science: cell biology, structural biology, reagents development eg. fibroblasts, iPSC)
- reaching out to as many people impacted by the mutation as possible, to create patient registry and understand real scale of the syndrome
- leverage current caregivers' experience in order to define best way of epilepsy management and development stimulation before there is a treatment for the mutation in place.
In parallel we want to drive development of long term syndrome treatment in 3 technologies:
- ASO (antisense) technology,
- small molecule,
- gene therapy.
Given current development stage, we will focus our efforts on ASO & small molecule strategy first. Gene editing is our later priority, nevertheless, looking at speed of development in this area, it may become top priority at some point.