NIH R01 · 2025
Impact of PIGA Loss on Hematopoietic Stem Cell Function
PROJECT SUMMARY The goal of this proposal is to identify the mechanisms underlying the expansion of phosphatidylinositol glycan type A (PIGA) gene-mutated hematopoietic cells in patients with paroxysmal nocturnal hemoglobinuria (PNH) disease. PIGA is a gene required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors. Patients with PNH disease develop somatic mutations in PIGA in their hematopoietic stem and progenitor cells (HSPCs). PIGA protein deficient (PIGA–) HSPCs lack all GPI-anchored proteins and clonally expand, causing life-threat- ening hemolytic anemia and thrombosis in PNH patients. Although progress has been made in treating hemolytic anemia associated with PNH,…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.