Battling Diamond-Blackfan anaemia


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Gene therapy strategies against Diamond-Blackfan anaemia (DBA) have been hampered by the multiple and heterogeneous causative mutations. A study now shows that modulating GATA1 expression is


sufficient to tackle the erythroid maturation arrest in DBA models and patient-derived samples.


Voit et al. first identified endogenous regulatory elements (hG1E-GATA1) guiding erythroid-restricted expression of GATA1 in human haematopoietic cells and then showed that hG1E-GATA1


treatment supports erythropoiesis without affecting haematopoietic stem cell function. Subsequently, they demonstrated that hG1E-GATA1 treatment can improve erythroid output in DBA models,


as well as in samples from individuals with DBA, including in vivo, as suggested by xenotransplantation assays. Using single-cell transcriptomics, Voit et al. found that hG1E-GATA1 treatment

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