Foundation | PACS2 Research Foundation

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Who we are?

The non-profit organization dedicated to drive first-ever treatment development for ultra-rare neurodevelopmental disorder (Development and Epileptic Encephalopathy 66) caused by mutation in PACS2 gene. We strive to enhance the quality of life for affected patients and their families. We anchor our efforts on interdisciplinary and international cooperation, buidling and fortifying patient-scientists-clinicists partnership and sharing experience with other research foundations.

Currently run RESEARCH: LINK

Privately we are parents of Lena who is impacted by the mutation. You can follow us on Instagram @misjalek.

The foundation is registered in Warsaw, Poland. Nevertheless, we operate worldwide for all patients affected by the disorder.

We are active members of European Patient Advocacy Group supporting European Reference Network EpiCARE, and founders of Complex and Rare Epilepsies Alliance - first european association for rare epilepsies.

We are patient representatives in Rare Disease Council at Polish Ministry of Health and Warsaw Health Innovation Hub of Polish Medical Research Agency.

Registry information and annual statement:

Registered in Warsaw, Poland

Polish National Registry (Krajowy Rejestr Sadowy) number: 0000970620

Tax Identification Number (NIP): 5213967421

Board:

Malgorzata Kosla - President, mom of a child affected by PACS2 syndrome

Piotr Kosla - Vice-President, dad of a child affected by PACS2 syndrome

Dominik Cysewski, PhD - Scientific Director & Researcher in Medical University of Warsaw (main focus: proteomics)

Supervisory Board:
Justyna Karwat - Chairman & the parent of a child affected by PACS2 syndrome
Zbigniew Karwat - the parent of a child affected by PACS2 syndrome

Anna Kordala, PhD - Pharmacist & Scientist with experience in genetics research on rare diseases at the University of Oxford, Program Director at Cure HSPB8
Krzysztof Szczaluba, PhD - Clinical Genetist & Director of Center of Excellence for Rare and Undiagnosed Diseases, Medical University of Warsaw

Scientific Team: LINK

Foundation statute (Polish only) - updated in August 2024:

Annual statements:

2024 (Financial statements and Substantive report - official documents in PLN in Polish):

All reports are also published in the database of Polish public benefit organizations' reports of the National Freedom Institute (Narodowy Instytut Wolnosci). In case you would need statement in English, please write to us: info@pacs2research.org

2022 & 2023 (Financial statements, simplified, in USD - English):

2023 (Financial statements - official documents in PLN in Polish):

* percentage of revenue invested in research: 98%

2022 (Financial statements + Activities' Report for Polish Ministry of Health - official documents in PLN in Polish):
* percentage of revenue invested in research: 94%