Battling diamond-blackfan anaemia

Access through your institution Buy or subscribe 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 reverses the DBA-characteristic erythroid

transcriptional dysregulation. Finally, integration site analysis revealed that the genomic integration profile of hG1E-GATA1 lentiviral vector is comparable to that of other lentiviral gene

therapy products, thus supporting the presented approach as a good candidate to test in the clinic. This is a preview of subscription content, access via your institution ACCESS OPTIONS

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Contact customer support AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Nature Cell Biology https://www.nature.com/ncb/ Stylianos Lefkopoulos Authors * Stylianos Lefkopoulos View author

publications You can also search for this author inPubMed Google Scholar CORRESPONDING AUTHOR Correspondence to Stylianos Lefkopoulos. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT

THIS ARTICLE CITE THIS ARTICLE Lefkopoulos, S. Battling Diamond-Blackfan anaemia. _Nat Cell Biol_ 27, 4 (2025). https://doi.org/10.1038/s41556-024-01599-1 Download citation * Published: 16

January 2025 * Issue Date: January 2025 * DOI: https://doi.org/10.1038/s41556-024-01599-1 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get

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