Emerging Genetic Therapy for Sickle Cell Disease

The new frontier of genome engineering with CRISPR-Cas9

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Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

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Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage

Gaudelli, N. M., Komor, A. C., Rees, H. A., Packer, M. S., Badran, A. H., Bryson, D. I., & Liu, D. R. (2017) · Nature · doi:10.1038/nature24644 · Cited by 4,184

Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia

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Sickle Cell Anemia, a Molecular Disease

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An efficient targeted nuclease strategy for high-resolution mapping of DNA binding sites

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Genomewide Association Studies and Assessment of the Risk of Disease

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Gene therapy comes of age

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Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia

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Global Burden of Sickle Cell Anaemia in Children under Five, 2010–2050: Modelling Based on Demographics, Excess Mortality, and Interventions

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Gene Mutations in Human Hæmoglobin: the Chemical Difference Between Normal and Sickle Cell Hæmoglobin

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Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific Repressor BCL11A

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BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis

Canver, M. C., Smith, E. C., Sher, F., Pinello, L., Sanjana, N. E., Shalem, O., Chen, D. D., Schupp, P. G., Vinjamur, D. S., Garcia, S. P., et al. (2015) · Nature · doi:10.1038/nature15521 · Cited by 886

CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells

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Introduction of double-strand breaks into the genome of mouse cells by expression of a rare-cutting endonuclease.

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Gene therapy in a patient with sickle cell disease

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Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia

Thompson, A. A., Walters, M. C., Kwiatkowski, J., Rasko, J. E. J., Ribeil, J.-A., Hongeng, S., Magrin, E., Schiller, G. J., Payen, E., Semeraro, M., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1705342 · Cited by 684

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Uda, M., Galanello, R., Sanna, S., Lettre, G., Sankaran, V. G., Chen, W., Usala, G., Busonero, F., Maschio, A., Albai, G., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711566105 · Cited by 672

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

Bauer, D. E., Kamran, S. C., Lessard, S., Xu, J., Fujiwara, Y., Lin, C., Shao, Z., Canver, M. C., Smith, E. C., Pinello, L., et al. (2013) · Science · doi:10.1126/science.1242088 · Cited by 653

Hematopoietic Stem Cell Quiescence Promotes Error-Prone DNA Repair and Mutagenesis

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Correction of sickle cell disease in transgenic mouse models by gene therapy

Pawliuk, R., Westerman, K. A., Fabry, M. E., Payen, E., Tighe, R., Bouhassira, E. E., Acharya, S. A., Ellis, J., London, I. M., Eaves, C. J., et al. (2001) · Science · doi:10.1126/science.1065806 · Cited by 579

Therapeutic haemoglobin synthesis in β-thalassaemic mice expressing lentivirus-encoded human β-globin

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Targeted genome editing in human repopulating haematopoietic stem cells

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Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia.

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A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15

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Direct promoter repression by BCL11A controls the fetal to adult hemoglobin switch

Liu, N., Hargreaves, V. V., Zhu, Q., Kurland, J. V., Hong, J., Kim, W., Sher, F., Macias-Trevino, C., Rogers, J. M., Kurita, R., et al. (2018) · Cell · doi:10.1016/j.cell.2018.03.016 · Cited by 478

Selection-free genome editing of the sickle mutation in human adult hematopoietic stem/progenitor cells

DeWitt, M. A., Magis, W., Bray, N. L., Wang, T., Berman, J. R., Urbinati, F., Heo, S.-J., Mitros, T., Muñoz, D. P., Boffelli, D., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf9336 · Cited by 477

Reactivation of developmentally silenced globin genes by forced chromatin looping

Deng, W., Rupon, J. W., Krivega, I., Breda, L., Motta, I., Jahn, K. S., Reik, A., Gregory, P. D., Rivella, S., Dean, A., et al. (2014) · Cell · doi:10.1016/j.cell.2014.05.050 · Cited by 443

Establishment of Immortalized Human Erythroid Progenitor Cell Lines Able to Produce Enucleated Red Blood Cells

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Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin

Masuda, T., Wang, X., Maeda, M., Canver, M. C., Sher, F., Funnell, A. P. W., Fisher, C., Suciu, M., Martyn, G. E., Norton, L. J., et al. (2016) · Science · doi:10.1126/science.aad3312 · Cited by 373

A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition

Traxler, E. A., Yao, Y., Wang, Y.-D., Woodard, K. J., Kurita, R., Nakamura, Y., Hughes, J. R., Hardison, R. C., Blobel, G. A., Li, C., et al. (2016) · Nature Medicine · doi:10.1038/nm.4170 · Cited by 366

Characterization of Genomic Deletion Efficiency Mediated by Clustered Regularly Interspaced Palindromic Repeats (CRISPR)/Cas9 Nuclease System in Mammalian Cells*

Canver, M. C., Bauer, D. E., Dass, A., Yien, Y. Y., Chung, J., Masuda, T., Maeda, T., Paw, B. H., & Orkin, S. H. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.564625 · Cited by 357

Bcl11a is essential for normal lymphoid development

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Correction of Sickle Cell Disease in Adult Mice by Interference with Fetal Hemoglobin Silencing

Xu, J., Peng, C., Sankaran, V. G., Shao, Z., Esrick, E. B., Chong, B. G., Ippolito, G. C., Fujiwara, Y., Ebert, B. L., Tucker, P. W., et al. (2011) · Science · doi:10.1126/science.1211053 · Cited by 326

Correction of the sickle cell disease mutation in human hematopoietic stem/progenitor cells

Hoban, M. D., Cost, G. J., Mendel, M. C., Romero, Z., Kaufman, M. L., Joglekar, A. V., Ho, M., Lumaquin, D., Gray, D., Lill, G. R., et al. (2015) · Blood · doi:10.1182/blood-2014-12-615948 · Cited by 320

Mi-2/NuRD: multiple complexes for many purposes

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Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding

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Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation

Galarneau, G., Palmer, C. D., Sankaran, V. G., Orkin, S. H., Hirschhorn, J. N., & Lettre, G. (2010) · Nature Genetics · doi:10.1038/ng.707 · Cited by 273

Molecular Basis of Hereditary Persistence of Fetal Hemoglobin

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Potassium Cyanate as an Inhibitor of the Sickling of Erythrocytes In Vitro

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GBT 440 increases haemoglobin oxygen affinity, reduces sickling and prolongs RBC half‐life in a murine model of sickle cell disease

Oksenberg, D., Dufu, K., Patel, M. P., Chuang, C.-Y., Li, Z., Xu, Q. R., Silva‐Garcia, A., Zhou, C., Hutchaleelaha, A., Patskovska, L. N., et al. (2016) · British Journal of Haematology · doi:10.1111/bjh.14214 · Cited by 244

Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A

Xu, J., Bauer, D. E., Kerenyi, M. A., Vo, T. D., Hou, S., Hsu, Y.-J., Yao, H., Trowbridge, J. J., Mandel, G., & Orkin, S. H. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1303976110 · Cited by 233

Non-genotoxic conditioning for hematopoietic stem cell transplantation using a hematopoietic-cell-specific internalizing immunotoxin

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Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both.

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Genome editing using CRISPR-Cas9 to create the HPFH genotype in HSPCs: An approach for treating sickle cell disease and β-thalassemia

Ye, L., Wang, J., Tan, Y., Beyer, A. I., Xie, F., Muench, M. O., & Kan, Y. W. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1612075113 · Cited by 197

Genetic treatment of a molecular disorder: gene therapy approaches to sickle cell disease

Hoban, M. D., Orkin, S. H., & Bauer, D. E. (2016) · Blood · doi:10.1182/blood-2015-09-618587 · Cited by 194

Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human β-globin locus

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THE SIGNIFICANCE OF THE PAUCITY OF SICKLE CELLS IN NEWBORN NEGRO INFANTS

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In vivo correction of anaemia in β-thalassemic mice by γPNA-mediated gene editing with nanoparticle delivery

Bahal, R., McNeer, N. A., Quijano, E., Liu, Y., Sulkowski, P. L., Turchick, A., Lu, Y.-C., Bhunia, D. C., Manna, A., Greiner, D. L., et al. (2016) · Nature Communications · doi:10.1038/ncomms13304 · Cited by 179

At least 20% donor myeloid chimerism is necessary to reverse the sickle phenotype after allogeneic HSCT

Fitzhugh, C. D., Cordes, S., Taylor, T. N., Coles, W. A., Roskom, K., Link, M., Hsieh, M. M., & Tisdale, J. F. (2017) · Blood · doi:10.1182/blood-2017-03-772392 · Cited by 171

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Dias, C., Estruch, S. B., Graham, S. A., McRae, J. F., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S., Morton, J. E. V., Turner, C., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.030 · Cited by 168

Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype.

Brendel, C., Guda, S., Renella, R., Bauer, D. E., Canver, M. C., Kim, Y.-J., Heeney, M. M., Klatt, D., Fogel, J., Milsom, M. D., et al. (2016) · Journal of Clinical Investigation · doi:10.1172/jci87885 · Cited by 167

Long-Term Engraftment and Fetal Globin Induction upon BCL11A Gene Editing in Bone-Marrow-Derived CD34 + Hematopoietic Stem and Progenitor Cells

Chang, K.-H., Smith, S. E., Sullivan, T., Chen, K., Zhou, Q., West, J. A., Liu, M., Liu, Y., Vieira, B. F., Sun, C., et al. (2017) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2016.12.009 · Cited by 155

Granulocyte colony-stimulating factor (G-CSF) administration in individuals with sickle cell disease: time for a moratorium?

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BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Basak, A., Hancarova, M., Ulirsch, J. C., Balci, T. B., Trkova, M., Pelisek, M., Vlckova, M., Muzikova, K., Cermak, J., Trka, J., et al. (2015) · Journal of Clinical Investigation · doi:10.1172/jci81163 · Cited by 147

Functional footprinting of regulatory DNA

Vierstra, J., Reik, A., Chang, K.-H., Stehling-Sun, S., Zhou, Y., Hinkley, S. J., Paschon, D. E., Zhang, L., Psatha, N., Bendana, Y. R., et al. (2015) · Nature Methods · doi:10.1038/nmeth.3554 · Cited by 133

Bcl11a Deficiency Leads to Hematopoietic Stem Cell Defects with an Aging-like Phenotype

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Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin

Wienert, B., Funnell, A. P. W., Norton, L. J., Pearson, R. C. M., Wilkinson‐White, L. E., Lester, K. L., Vadolas, J., Porteus, M. H., Matthews, J. M., Quinlan, K. G. R., et al. (2015) · Nature Communications · doi:10.1038/ncomms8085 · Cited by 125

Plerixafor enables safe, rapid, efficient mobilization of hematopoietic stem cells in sickle cell disease patients after exchange transfusion

Lagresle‐Peyrou, C., Lefrère, F., Magrin, E., Ribeil, J., Romano, O., Weber, L., Magnani, A., Sadek, H., Plantier, C., Gabrion, A., et al. (2018) · Haematologica · doi:10.3324/haematol.2017.184788 · Cited by 124

Whole-genome-sequence-based haplotypes reveal single origin of the sickle allele during the Holocene wet phase

Shriner, D., & Rotimi, C. N. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.02.003 · Cited by 118

Mi2β-mediated silencing of the fetal γ-globin gene in adult erythroid cells

Amaya, M., Desai, M., Gnanapragasam, M. N., Wang, S. Z., Zu Zhu, S., Williams, D. C., & Ginder, G. D. (2013) · Blood · doi:10.1182/blood-2012-11-466227 · Cited by 102

Evi9 Encodes a Novel Zinc Finger Protein That Physically Interacts with BCL6, a Known Human B-Cell Proto-Oncogene Product

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An intrinsically disordered region of methyl-CpG binding domain protein 2 (MBD2) recruits the histone deacetylase core of the NuRD complex

Desai, M., Webb, H., Sinanan, L. M., Scarsdale, J. N., Walavalkar, N. M., Ginder, G. D., & Williams, D. C. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv168 · Cited by 97

KLF1 drives the expression of fetal hemoglobin in British HPFH

Wienert, B., Martyn, G. E., Kurita, R., Nakamura, Y., Quinlan, K. G. R., & Crossley, M. (2017) · Blood · doi:10.1182/blood-2017-02-767400 · Cited by 94

Successful hematopoietic stem cell mobilization and apheresis collection using plerixafor alone in sickle cell patients

Esrick, E. B., Manis, J. P., Daley, H., Baricordi, C., Trebeden‐Negre, H., Pierciey, F. J., Armant, M. A., Nikiforow, S., Heeney, M. M., London, W. B., et al. (2018) · Blood Advances · doi:10.1182/bloodadvances.2018016725 · Cited by 87

Interim Results from a Phase 1/2 Clinical Study of Lentiglobin Gene Therapy for Severe Sickle Cell Disease

Kanter, J., Walters, M. C., Hsieh, M. M., Krishnamurti, L., Kwiatkowski, J. L., Kamble, R. T., Kalle, C. V., Kuypers, F. A., Cavazzana, M., Leboulch, P., et al. (2016) · Blood · doi:10.1182/blood.v128.22.1176.1176 · Cited by 75

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment

Funnell, A. P. W., Prontera, P., Ottaviani, V., Piccione, M., Giambona, A., Maggio, A., Ciaffoni, F., Stehling-Sun, S., Marra, M., Masiello, F., et al. (2015) · Blood · doi:10.1182/blood-2015-04-638528 · Cited by 71

Probing the interaction between the histone methyltransferase/deacetylase subunit RBBP4/7 and the transcription factor BCL11A in epigenetic complexes

Moody, R., Lo, M., Meagher, J. L., Lin, C.-C. A., Stevers, N. O., Tinsley, S. L., Jung, I., Matvekas, A., Stuckey, J. A., & Sun, D. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.811463 · Cited by 66

Peptide Nucleic Acids as a Tool for Site-Specific Gene Editing

Ricciardi, A. S., Quijano, E., Putman, R., Saltzman, W. M., & Glazer, P. M. (2018) · Molecules · doi:10.3390/molecules23030632 · Cited by 66

Safety and efficacy of plerixafor dose escalation for the mobilization of CD34 + hematopoietic progenitor cells in patients with sickle cell disease: interim results

Boulad, F., Shore, T. B., van Besien, K., Minniti, C. P., Barbu-Stevanovic, M., Fedus, S. W., Perna, F., Greenberg, J., Guarneri, D., Nandi, V., et al. (2018) · Haematologica · doi:10.3324/haematol.2017.187047 · Cited by 60

Paying for future success in gene therapy

Orkin, S. H., & Reilly, P. R. (2016) · Science · doi:10.1126/science.aaf4770 · Cited by 59

Strict in vivo specificity of the Bcl11a erythroid enhancer

Smith, E. C., Luc, S., Croney, D. M., Woodworth, M. B., Greig, L. C., Fujiwara, Y., Nguyen, M., Sher, F., Macklis, J. D., Bauer, D. E., et al. (2016) · Blood · doi:10.1182/blood-2016-08-736249 · Cited by 50

g(HbF): a genetic model of fetal hemoglobin in sickle cell disease

Gardner, K., Fulford, T., Silver, N., Rooks, H., Angelis, N., Allman, M., Nkya, S., Makani, J., Howard, J., Kesse-Adu, R., et al. (2018) · Blood Advances · doi:10.1182/bloodadvances.2017009811 · Cited by 43

A genome editing primer for the hematologist

Hoban, M. D., & Bauer, D. E. (2016) · Blood · doi:10.1182/blood-2016-01-678151 · Cited by 32

Mathematical modeling of erythrocyte chimerism informs genetic intervention strategies for sickle cell disease

Altrock, P. M., Brendel, C., Renella, R., Orkin, S. H., Williams, D. A., & Franziska Michor, A. (2016) · American Journal of Hematology · doi:10.1002/ajh.24449 · Cited by 31

Successful Plerixafor-Mediated Mobilization, Apheresis, and Lentiviral Vector Transduction of Hematopoietic Stem Cells in Patients with Severe Sickle Cell Disease

Tisdale, J. F., Pierciey, F. J., Kamble, R. T., Kanter, J., Krishnamurti, L., Kwiatkowski, J. L., Thompson, A. A., Shestopalov, I. A., Bonner, M. A., Joseney-Antoine, M., et al. (2017) · Blood · doi:10.1182/blood.v130.suppl_1.990.990 · Cited by 21

Gene Addition Strategies for β-Thalassemia and Sickle Cell Anemia

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Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing

Leibowitz, M. L., Papathanasiou, S., Doerfler, P. A., Blaine, L. J., Sun, L., Yao, Y., Zhang, C.-Z., Weiss, M. J., & Pellman, D. (2021) · Nature Genetics · doi:10.1038/s41588-021-00838-7 · Cited by 583

Recent Advances in the Treatment of Sickle Cell Disease

Cisneros, G. S., & Thein, S. L. (2020) · Frontiers in Physiology · doi:10.3389/fphys.2020.00435 · Cited by 210

Development of β-globin gene correction in human hematopoietic stem cells as a potential durable treatment for sickle cell disease

Lattanzi, A., Camarena, J., Lahiri, P., Segal, H., Srifa, W., Vakulskas, C. A., Frock, R. L., Kenrick, J., Lee, C. M., Talbott, N., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abf2444 · Cited by 171

Fetal hemoglobin in sickle cell anemia

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Hematopoietic stem cells through the ages: A lifetime of adaptation to organismal demands

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