ArticleBlood2023
Adenine base editor-mediated correction of the common and severe IVS1-110 (G>A) β-thalassemia mutation.
Article in Blood, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 42 citations in OpenAlex.
- Electroporation for High-Efficiency Delivery of CRISPR to Hematopoietic Cells.Methods in molecular biology (Clifton, N.J.) · 2027Article
- Pharmacological readthrough and base editing forMolecular therapy. Nucleic acids · 2026Article
- The splice of life: an isoform-centric view of disease, technology, and therapeutics.The Journal of clinical investigation · 2026Review
- Thalassaemia.Nature reviews. Disease primers · 2026Review
- New Gene Therapy Strategy for β-Thalassemia.Stem cell reviews and reports · 2026Review
- Engraftment Outcome of CRISPR/Cas9-Edited Hematopoietic Stem Cells for Genetic Diseases: A Systematic Review and Meta-Analysis of Preclinical Evidence.Journal of hematology · 2026Article
- Advances in CRISPR Base Editing: From Molecular Evolution to Therapeutic Applications in Genomic Medicine.Journal of cellular and molecular medicine · 2026Review
- Advances in Gene Therapy for Inherited Haemoglobinopathies.Hematology reports · 2025Review
- Gene therapy for hemoglobinopathies: Clinical trial results and biology of hematopoietic stem cell and the bone marrow niche.Cell reports. Medicine · 2025Review
- Multiplex base editing of BCL11A regulatory elements to treat sickle cell disease.Cell reports. Medicine · 2025Article
- Review
- Engraftment and persistence ofScience translational medicine · 2025Article
- Beyond transfusions and transplants: genomic innovations rewriting the narrative of thalassemia.Annals of hematology · 2025Review
- Advancing Precision Medicine: Recent Innovations in Gene Editing Technologies.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Fujian Province β-Thalassemia: A Molecular and Hematological Study in Southeastern China.Genetics research · 2025Article
- Editing of homologous globin genes by nickase-deficient base editor mitigates large intergenic deletions in HSPCs.Molecular therapy. Nucleic acids · 2024Article
- Gene Editing of the Endogenous Cryptic 3' Splice Site Corrects the RNA Splicing Defect in the βHuman gene therapy · 2024Article
- Base Editors-Mediated Gene Therapy in Hematopoietic Stem Cells for Hematologic Diseases.Stem cell reviews and reports · 2024Review
- Context base editing for splice correction of IVSI-110 β-thalassemia.Molecular therapy. Nucleic acids · 2024Article
- Precise correction of a spectrum of β-thalassemia mutations in coding and non-coding regions by base editors.Molecular therapy. Nucleic acids · 2024Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
β-Thalassemia (BT) is one of the most common genetic diseases worldwide and is caused by mutations affecting β-globin production. The only curative treatment is allogenic hematopoietic stem/progenitor cells (HSPCs) transplantation, an approach limited by compatible donor availability and immunological complications. Therefore, transplantation of autologous, genetically-modified HSPCs is an attractive therapeutic option. However, current gene therapy strategies based on the use of lentiviral vectors are not equally effective in all patients and CRISPR/Cas9 nuclease-based strategies raise safety concerns. Thus, base editing strategies aiming to correct the genetic defect in patients' HSPCs could provide safe and effective treatment. Here, we developed a strategy to correct one of the most prevalent BT mutations (IVS1-110 [G>A]) using the SpRY-ABE8e base editor. RNA delivery of the base editing system was safe and led to ∼80% of gene correction in the HSPCs of patients with BT without causing dangerous double-strand DNA breaks. In HSPC-derived erythroid populations, this strategy was able to restore β-globin production and correct inefficient erythropoiesis typically observed in BT both in vitro and in vivo. In conclusion, this proof-of-concept study paves the way for the development of a safe and effective autologous gene therapy approach for BT.
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