21/11/2025 - Research
A new cellular model reveals which mutations drive progression to myelodysplastic syndrome and leukemia in patients with GATA2 deficiency
A research team has created the first humanised cellular model to study GATA2 deficiency, a rare genetic disorder that predisposes individuals to severe blood conditions such as myelodysplastic syndrome and leukaemia. The study shows that, although the initial GATA2 mutation weakens haematopoietic stem cells, it is additional mutations -particularly in the SETBP1 gene- that drive disease progression.