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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: pacs2research@gmail.com

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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)
     

Clinics

  • 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: pacs2research@gmail.com.

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Publications on PACS2 syndrome

Case reports

Kotwica 1
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ABOUT US >

We are Malgorzata & Piotr, parents of little twin girls - one of them, Lena, is impacted by PACS2 mutation. We strive for finding the treatment for Lena and all children suffering from this syndrome.

If you want to get engaged in research, please contact us.

If you are a caregiver of PACS2 child - do not hesitate to write to us in case of any questions - we will try to help.

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