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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 (Poland)

  • iPSC (1 line ready, 2 lines to be ready in Sept 2024) - WiCell (developed in cooperation with iXCells Biotechnologies)

  • Mouse model with PACS2 mutation - available in: Czech Academy of Science (Czech Republic); Medical University of Bialystok (Poland)

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

  • Brain organoids - in plan / looking for a partner

On-going & planned research on PACS2 syndrome:
Basic research

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

  • Pathogenic mechanisms of PACS2 syndrome variant in developing neurons - Northwestern University (Chigaco, US) 

  • Leading investigator: Alicia D Guemez Gamboa, PhD | NIH grant 

  • Impact of the E209K PACS2 Syndrome mutation on neuronal metabolism and neurotransmission - University of Pittsburgh (US)
    Leading investigator: Gary Thomas, PhD | NIH grant

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

Translational research

Drug repurposing

  • 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

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

Advanced therapies

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

  • Exploring genome editing strategies for both correction and allele-specific disruption of the pathogenic mutation - in plan / The Jackson Laboratory (US)

  • n-of-1 ASO design for experimental treatment - nLorem Foundation (US)


  • Clinical observation of 5 new cases  - Medical University of Warsaw (Poland)
    Leading investigator: Sylwia Czarnecka, MD; under supervision of prof. Krystyna Szymanska and Krzysztof Szczaluba, PhD

  • Patient registry - Simons Searchlight - to be started soon

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

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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