Home > Haematology > EHA 2019 > Bench-to-Bedside > Transformation of foetal haematopoietic stem and progenitor cells in the background of trisomy 21

Transformation of foetal haematopoietic stem and progenitor cells in the background of trisomy 21

Presented By
Sofia Gialesaki, Hannover Medical School, Germany
Conference
EHA 2019

In the Presidential Symposium, Sofia Gialesaki (Hannover Medical School, Germany) presented her functional studies aimed to understand the pathophysiology behind myeloid leukaemia predisposition in trisomy 21 [1].

Children with Down syndrome (DS) are at high risk of developing myeloid leukaemia (ML-DS). Up to 30% of DS newborns develop a pre-leukaemic transient abnormal myelopoiesis (TAM), characterised by the accumulation of immature megakaryoblasts of foetal origin. TAM is characterised by GATA1 mutations (GATA1-s) that result in a shorter protein isoform lacking the N-terminal transactivation domain. To understand how trisomy 21 cooperates with GATA1-s in TAM development, the researchers performed a CRISPR/Cas9 screen, targeting the 218 currently annotated coding genes on Hsa21 with 1,090 sgRNAs in both a ML-DS and control cell line.

RUNX1 loss resulted in depletion of ML-DS cells. Additionally, the researchers observed differential RUNX...



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