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Editorial
. 2016 Oct 25:3:66.
doi: 10.21037/sci.2016.09.21. eCollection 2016.

Ground state naïve pluripotent stem cells and CRISPR/Cas9 gene correction for β-thalassemia

Alessia Finotti  1 , Monica Borgatti  1 , Roberto Gambari  2
Affiliations
Editorial

Ground state naïve pluripotent stem cells and CRISPR/Cas9 gene correction for β-thalassemia

Alessia Finotti et al. Stem Cell Investig. .
No abstract available

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Therapeutic options for β-thalassemia based on gene therapy and gene editing. Modified from Finotti et al. (4). HSPC, hematological stem precursor cells; iPSC, induced pluripotent stem cells.
Figure 2
Figure 2
Potential targets of the CRISPR/Cas9 gene editing for β-thalassemia. Genetic correction/repair strategies are based on specific and personalized modification of the β-globin gene cluster through (a1-a4) correction of the β-thalassemia mutations of the β-globin gene (reported examples: a1, β039; a2: β0-IVSI-1 and β+-IVSI-6; a3: β+-IVSI-110 and a4, β0-IVSII-1) or insertion of the HPFH-associated SNPs into the Gγ or Aγ promoters (b). Genetic disruption strategies involve targeted disruption of HbF associated sequences within the Aγ-δ intergenic region (c), coding sequence for repressors of the γ-globin gene transcription (some representative direct or indirect γ-globin gene repressors are shown in the upper part of the panel and include BCL11A, MYB, KLF1, LRF/ZBTB7A, or EHMT1/EHMT2) (d) or, if present, erythroid-specific enhancer regulating γ-globin gene repressors (e) (8).
See this image and copyright information in PMC

Comment on

References

    1. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2001;2:245-55. 10.1038/35066048 - DOI - PubMed
    1. Finotti A, Borgatti M, Bianchi N, et al. Orphan Drugs and Potential Novel Approaches for Therapies of β-Thalassemia: Current Status and Future Expectations. Expert Opin Orphan Drugs 2016;4:299-315. 10.1517/21678707.2016.1135793 - DOI
    1. Finotti A, Breda L, Lederer CW, et al. Recent trends in the gene therapy of β-thalassemia. J Blood Med 2015;6:69-85. - PMC - PubMed
    1. Finotti A, Gambari R. Recent trends for novel options in experimental biological therapy of β-thalassemia. Expert Opin Biol Ther 2014;14:1443-54. 10.1517/14712598.2014.927434 - DOI - PubMed
    1. Traxler EA, Yao Y, Wang YD, et al. A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition. Nat Med 2016;22:987-90. 10.1038/nm.4170 - DOI - PMC - PubMed

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