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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 progress - Northwerstern University

• Current publications on PACS2 Syndrome listed under this link

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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

• 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​

• 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 - grant application awaiting decision

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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 survey - Simons Searchlight 

• Natural History Study - under preparation - grant application awaiting decision

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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.