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CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells
Open accessAbstract
The β-haemoglobinopathies, such as sickle cell disease and β-thalassaemia, are caused by mutations in the β-globin (HBB) gene and affect millions of people worldwide. Ex vivo gene correction in patient-derived haematopoietic stem cells followed by autologous transplantation could be used to cure β-haemoglobinopathies. Here we present a CRISPR/Cas9 gene-editing system that combines Cas9 ribonucleoproteins and adeno-associated viral vector delivery of a homologous donor to achieve homologous recombination at the HBB gene in haematopoietic stem cells. Notably, we devise an enrichment model to purify a population of haematopoietic stem and progenitor cells with more than 90% targeted integration. We also show efficient correction of the Glu6Val mutation responsible for sickle cell disease by using patient-derived stem and progenitor cells that, after differentiation into erythrocytes, express adult β-globin (HbA) messenger RNA, which confirms intact transcriptional regulation of edited HBB alleles. Collectively, these preclinical studies outline a CRISPR-based methodology for targeting haematopoietic stem cells by homologous recombination at the HBB locus to advance the development of next-generation therapies for β-haemoglobinopathies.
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“Accordingly, several reports have shown efficient Glu6Val correction in SCD-HSPCs, although correction efficiency can sometimes be linked with off-target INDELs in the same edited population15,16,45,46.”
From A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells (2018) · cites this paper as [15]
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“RNP delivery results in an initially high level of the genome editing machinery followed by rapid decay, leading to a “fast on, fast off” strategy that results in highly efficient editing while minimizing OTEs13–19.”
From A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells (2018) · cites this paper as [15]
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“AAV6 homologous donor DNA templates are an efficient way to deliver donor templates for sensitive primary immune cells, including HSPCs and T-Cells15,35–40.”
From A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells (2018) · cites this paper as [15]
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“Recent studies have shown that disease-causing genetic errors can be corrected using CRISPR/Cas9 in long-term engrafting HSPCs that are preserved in downstream effector lineages15,16,24,25.”
From A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells (2018) · cites this paper as [15]
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“Major progress in delivering to 44 and handling HPSCs has resulted in formidable efficiencies of mutation correction or mitigation 18,45-47 that are expected to be curative.”
From The promise and challenge of therapeutic genome editing (2020) · cites this paper as [45]
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“Furthermore, CRISPR/Cas9 system holds tremendous promise for gene therapy [46–51]. It can correct causal mutations in the original genome and rescue the disease phenotypes of monogenic disorders permanently, which currently represents the most translatable field in CRISPR/Cas9-mediated disease therapy.”
From Non-viral delivery systems for CRISPR/Cas9-based genome editing: challenges and opportunities (2018) · cites this paper as [49]
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Metadata
- Authors
- Dever, D. P., Bak, R. O., Reinisch, A., Camarena, J., Washington, G., Nicolas, C. E., Pavel-Dinu, M., Saxena, N., Wilkens, A. B., Mantri, S., Uchida, N., Hendel, A., Narla, A., Majeti, R., Weinberg, K. I., & Porteus, M. H.
- Affiliations
- Stanford University (US)
- Institute for Stem Cell Biology and Regenerative Medicine (US)
- Stanford Medicine (US)
- Corresponding author
- Porteus, Matthew H.
- ORCID
- Venue
- Nature
- Published
- 2016-11-07
- Volume
- 539
- Issue
- 7629
- Pages
- 384-389
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC5898607
- OpenAlex
- W2547418311
- Semantic Scholar
- 91eb4c33902b14df9b2974a4ce8dc6e3c3a02125
- Cited by
- 864
- References
- 50
- Citations by year
- 2026: 45 · 2025: 75 · 2024: 80 · 2023: 93 · 2022: 76 · 2021: 120 · 2020: 93 · 2019: 90 · 2018: 99 · 2017: 89 · 2016: 4
- FWCI
- 48.84
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- National Institutes of Health (5r01ai120766-02, R01-AI120766)
- National Eye Institute (PN2EY018244)
- National Institute of General Medical Sciences (T32GM007266)
- National Institute of Allergy and Infectious Diseases (R01-AI120766, R01AI097320)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Keywords
- CRISPR/Cas9 genome editing, beta-globin gene, hematopoietic stem cells, sickle cell disease, beta-thalassemia, homologous recombination, adeno-associated virus vectors, Cas9 ribonucleoprotein, autologous transplantation, reporter genes
- MeSH terms
- Gene Editing, Dependovirus, Alleles, Anemia, Sickle Cell, Animals, Cell Differentiation, Cell Separation, Erythrocytes, Female, Flow Cytometry, Hematopoietic Stem Cells, Humans, Microspheres, Mutation, RNA, Messenger, Genetic Therapy, Mice, SCID, Mice, Inbred NOD, beta-Thalassemia, Genes, Reporter, Gene Targeting, Antigens, CD34, Cell Lineage, beta-Globins, Magnets, Homologous Recombination, CRISPR-Cas Systems, CRISPR-Associated Proteins
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