ABOUT

Functionalgenomics.pl initiative with headquarter in Berlin, Germany operates within estabilished United States scientific and technological network under research collaboration agreements with following partners: Center for Gene Therapy, Nationwide Children’s Hospital, Columbus; Mayo Clinic Jacksonville; University Of California San Diego (UCSD); Salk Institute, La Jolla; Sanford Health Sieux Falls; Nemours Children’s Hospital Wilmington.

The European network for clinical study includes: Helmholtz Zentrum München; University Medical Center Utrecht; Universitätsmedizin Göttingen; Universität Düsseldorf Faculty of Medicine of the Heinrich-Heine-Universität; MSH Medical School Hamburg; Københavns Universitet.

Models: In paralel we develop largest NEDAMSS patients specific induced pluripotent stem cell (iPSCs) lines repository carrying genetic variants of IRF2BPL gene including they corrected isogenic iPSC controls and isogennic embryonic stem cell (ESCs) controls with variants introductions. Patients derived iPSCs are generated from skin punch biopsies and peripheral blood mononuclear cells (PBMCs) from ~50 functionalgenomics.pl participants  Details about the sources of the new and existing lines and the types of variants (missens, nonsens, frameshift) can be found under request. Furthemore we generate reporter stem cell lines, neuronal precursors (NPCs), 2D neurons and 3D brain organoids, derived from iPSCs and ESCs for precise stem cell based disease modeling, high content drug screening, drug repurposing and for testing patient tailored gene editing toolbox.