ArticleStem cells translational medicine2018
A Universal Approach to Correct Various HBB Gene Mutations in Human Stem Cells for Gene Therapy of Beta-Thalassemia and Sickle Cell Disease.
Article in Stem cells translational medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 128 citations in OpenAlex.
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- MN•CS•IO System: Cross-Species Study for HBB Function in High-Altitude Hypoxia Adaptation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- CRISPR and Fanzor in sickle cell disease: current progress and future prospects.Frontiers in genome editing · 2026Review
- The Molecular Pathology of Non-Malignant Haematological Disease.British journal of biomedical science · 2026Review
- Efficient high-precision transgene knock-in by Recombinases (Redα/β)-enhanced DNA integration-CRISPR-Cas9 (RED-CRISPR).Nature communications · 2025Article
- Treating genetic blood disorders in the era of CRISPR-mediated genome editing.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Applications of Gene Editing and Nanotechnology in Stem Cell-Based Therapies for Human Diseases.Stem cell reviews and reports · 2025Review
- A differentiated β-globin gene replacement strategy uses heterologous introns to restore physiological expression.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- CRISPR technology in human diseases.MedComm · 2024Review
- Precise correction of a spectrum of β-thalassemia mutations in coding and non-coding regions by base editors.Molecular therapy. Nucleic acids · 2024Article
- CRISPR-Cas9 system: a novel and promising era of genotherapy for beta-hemoglobinopathies, hematological malignancy, and hemophilia.Annals of hematology · 2024Review
- Insights for disease modeling from single-cell transcriptomics of iPSC-derived Ngn2-induced neurons and astrocytes across differentiation time and co-culture.BMC biology · 2024Article
- Recent Advances in CRISPR/Cas9 Delivery Approaches for Therapeutic Gene Editing of Stem Cells.Stem cell reviews and reports · 2023Review
- Defining global strategies to improve outcomes in sickle cell disease: a Lancet Haematology Commission.The Lancet. Haematology · 2023Review
- CRISPR/Cas9 andInternational journal of molecular sciences · 2023Article
- Article
- De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.BMC pediatrics · 2023Article
- Stem Cell-Based Therapeutic Approaches in Genetic Diseases.Advances in experimental medicine and biology · 2023Article
- The blood count as a compass to navigate in the ever-changing landscape of the carrier state of hemoglobinopathies: a single-center Italian experience.Frontiers in pediatrics · 2023Article
- Genetic correction of haemoglobin E in an immortalised haemoglobin E/beta-thalassaemia cell line using the CRISPR/Cas9 system.Scientific reports · 2022Article
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
Abstract
Beta-thalassemia is one of the most common recessive genetic diseases, caused by mutations in the HBB gene. Over 200 different types of mutations in the HBB gene containing three exons have been identified in patients with β-thalassemia (β-thal) whereas a homozygous mutation in exon 1 causes sickle cell disease (SCD). Novel therapeutic strategies to permanently correct the HBB mutation in stem cells that are able to expand and differentiate into erythrocytes producing corrected HBB proteins are highly desirable. Genome editing aided by CRISPR/Cas9 and other site-specific engineered nucleases offers promise to precisely correct a genetic mutation in the native genome without alterations in other parts of the human genome. Although making a sequence-specific nuclease to enhance correction of a specific HBB mutation by homology-directed repair (HDR) is becoming straightforward, targeting various HBB mutations of β-thal is still challenging because individual guide RNA as well as a donor DNA template for HDR of each type of HBB gene mutation have to be selected and validated. Using human induced pluripotent stem cells (iPSCs) from two β-thal patients with different HBB gene mutations, we devised and tested a universal strategy to achieve targeted insertion of the HBB cDNA in exon 1 of HBB gene using Cas9 and two validated guide RNAs. We observed that HBB protein production was restored in erythrocytes derived from iPSCs of two patients. This strategy of restoring functional HBB gene expression will be able to correct most types of HBB gene mutations in β-thal and SCD. Stem Cells Translational Medicine 2018;7:87-97.
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