These studies were closely followed by two groups who had carefully curated cohorts of familial MDS/AML and hereditary lymphoedema with MDS (Emberger syndrome), ultimately localizing the genetic defect to GATA2 (Scott et al, 2010; Hahn et al, 2011; Ostergaard et al, 2011). Here, GATA2 is linked to myelodysplastic syndrome.