Available assets
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Fibroblasts (1 cell line with mutation + controls from a fraternal twin and parents) - Coriell Institute (US)
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Fibroblasts (4 cell lines + 2 controls from siblings) - Medical University of Warsaw (Europe)
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iPSC (1 line) - WiCell (developed in cooperation with iXCells Biotechnologies)
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Mouse model with PACS2 mutation - available in: Czech Academy of Science (first developed line); University of Bialystok
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[Work in progress] Humanized mouse model development - The Jackson Laboratory
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Current publications on PACS2 Syndrome listed under this link
On-going & planned research run in cooperation with the Foundation:
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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 -
Towards therapeutic intervention in PACS2 syndrome with drug repurposing - Captor Therapeutics (Switzerland/Poland)
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Drug screening in C.elegans model - Institute of Biochemistry and Biophysiscs Polish Academy of Science (Poland)
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Drug screening based on cell painting - Charles River Laboratories (Netherlands)
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Drug screening based on neuronal cells - looking for a Partner
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3D model of mutated protein / structural biology - looking for a Partner
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Small molecule screeinging using AI - looking for a Partner
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RNA editing - technology exploration for PACS2 mutation - University of Oxford (UK)
Other on-going research:
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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: pacs2research@gmail.com.
Publications on PACS2 syndrome
Case reports
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Taiwan | Mar 2023 | Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review
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Italy | Jan 2023 | Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy
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Italy | Feb 2022 | First reported case of an inherited PACS2 pathogenic variant with variable expression
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Spain | Nov-Dec 2021 | New case with the recurrent c.625G>A pathogenic variant in the PACS2 gene: expanding the phenotype
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China | Oct 2021 | Clinical and genetic analysis of PACS2 gene variant in two child patients with developmental and epileptic encephalopathy 66
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China | July 2021 | Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review
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Japan | Feb 2021 | Clinical variations of epileptic syndrome associated with PACS2 variant
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Italy | May 2020 | A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome
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Italy | April 2019 | Expanding the clinical spectrum associated with PACS2 mutations
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International | May 2018 | A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis