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If you are a researcher or a physician and you would like to join our mission of curing PACS2 syndrome - reach out to us:



Available assets

  • Fibroblasts (1 cell line with mutation + controls from a fraternal twin and parents) - Coriell Institute (US)

  • Fibroblasts (4 cell lines + 2 controls from siblings) - Medical University of Warsaw (Europe)

  • iPSC (1 line) - WiCell (developed in cooperation with iXCells Biotechnologies)

  • Mouse model with PACS2 mutation - available in: Czech Academy of Science (first developed line); University of Bialystok

  • [Work in progress] Humanized mouse model development - The Jackson Laboratory

On-going & planned research run in cooperation with the Foundation:
Basic research

  • Metabolic profiling of fibroblasts (extended by proteomic analysis) - Nencki Institute of Experimental Biology (Poland)
    Leading investigators: prof. Agnieszka Dobrzyn, prof. Mariusz Wieckowski

  • Clinical observation of 4 new cases  - Medical University of Warsaw, Medical University of Wroclaw (Poland)
    Leading: Sylwia Czarnecka, MMSc; under supervision of prof. Robert Smigiel and Krzysztof Szczaluba, PhD

  • Characterization of iPSC-derived neural cells to understand PACS2 syndrome - Northwestern University (Chigaco, US)
    Leading investigator: Alicia D Guemez Gamboa, PhD 

  • PACS2 E209K mouse model phenotyping - University of Bialystok (Poland)
    Leading investigators: Kacper Łukasiewicz, PhD, Dominik Cysewski, PhD

  • 3D model of mutated protein / structural biology - in plan / looking for a Partner

Translational research

  • Towards therapeutic intervention in PACS2 syndrome with drug repurposing - Captor Therapeutics (Switzerland/Poland)

  • Drug screening in C.elegans model - Institute of Biochemistry and Biophysiscs Polish Academy of Science (Poland)

  • Drug screening based on cell painting - Charles River Laboratories (Netherlands) -> progress update

  • RNA editing - technology exploration for PACS2 mutation University of Oxford (UK)

  • Drug screening based on neuronal cells - in plan / looking for a Partner


  • Patient registry - Simons Searchlight - to be started soon

  • Natural History Study - under preparation - Partners to be announced soon

Other on-going research:

  • Role of PACS2 in central nervous system myelination - State University of New York at Buffalo
    Leading investigator: Yungki Park, PhD

If you are a researcher or physician, you run a research around PACS2 mutation and you would like to list your research above - please let us know:

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Publications on PACS2 syndrome

Case reports

Kotwica 1
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