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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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Current publications on PACS2 Syndrome listed at the bottom of the section

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Available assets

• Fibroblasts with E209K mutation (1 cell line with mutation + controls from a fraternal twin and parents) - Coriell Institute (US)

• Fibroblasts with E209K mutation (4 cell lines + 2 controls from siblings) - Medical University of Warsaw (Poland)

• iPSC with E209K mutation (3 lines) - WiCell (developed in cooperation with iXCells Biotechnologies)

• iPSC isogenic lines (mutation removed by CRISPR) to 3 patient lines - please contact us: info@pacs2research.org 

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

• Humanized mouse model - The Jackson Laboratory (US)

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

• Metabolic profiling of fibroblasts - Nencki Institute of Experimental Biology, Medical University of Bialystok, Medical University of Warsaw | Foundation funded 2023-2024; grant of Polish National Science Center (2025-2027)
  Leading investigators: prof. Mariusz Wieckowski, Dominik Cysewski, PhD; Kacper Lukasiewicz, PhD; Krzysztof Szczaluba, PhD

• Pathogenic mechanisms of PACS2 syndrome variant in developing neurons - Northwestern University (Chigaco, US) 
  Leading investigator: Alicia D Guemez Gamboa, PhD | Seed fund from Foundation (2023), NIH grant (2024-2026) 

• Impact of the E209K PACS2 Syndrome mutation on neuronal metabolism and neurotransmission - University of Pittsburgh (US)
  Leading investigator: Gary Thomas, PhD | NIH grant (2024-2029)

• PACS2 E209K mouse model phenotyping - Medical University of Bialystok (Poland)
  Leading investigators: Kacper Łukasiewicz, PhD, Dominik Cysewski, PhD | CCP Rare Disease Factory grant (2025-2026)

• The characterization of oxidative stress as a disease mechanism in the PACS2-syndrome - University of Alberta (Canada)
  Leading investigators: Prof. Thomas Simmen, Dr. Fabrizio Giuliani 

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Translational research

Drug repurposing​

• 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) | Funded by Foundation with support from Fundacja Rodziny Maj | finished - summary | ~100 compounds short-list for further screenings 

• Drug screening based on neuronal cells - preparation in progress, open for new cooperations

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Advanced therapies

• RNA editing - technology exploration for PACS2 mutation - University of Oxford (UK) | Seed fund from the Foundation (2023)

• 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) | Foundation grant to support the programme (2025)
   

Clinics​

• Clinical observation of 5 new cases  - Medical University of Warsaw (Poland)

• Patient survey - Simons Searchlight 

• Natural History Study - under preparation - preparation in progress Boston Children's Hospital, Medical University of Warsaw (Poland), ERN EpiCARE

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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.