The DOI matches its Crossref record; 77 of the 77 references it cites were found in a registry or an index.
Emerging Genetic Therapy for Sickle Cell Disease
Open accessAbstract
The genetic basis of sickle cell disease (SCD) was elucidated >60 years ago, yet current therapy does not rely on this knowledge. Recent advances raise prospects for improved, and perhaps curative, treatment. First, transcription factors, BCL11A and LRF/ZBTB7A, that mediate silencing of the β-like fetal (γ-) globin gene after birth have been identified and demonstrated to act at the γ-globin promoters, precisely at recognition sequences disrupted in rare individuals with hereditary persistence of fetal hemoglobin. Second, transformative advances in gene editing and progress in lentiviral gene therapy provide diverse opportunities for genetic strategies to cure SCD. Approaches include hematopoietic gene therapy by globin gene addition, gene editing to correct the SCD mutation, and genetic manipulations to enhance fetal hemoglobin production, a potent modifier of the clinical phenotype. Clinical trials may soon identify efficacious and safe genetic approaches to the ultimate goal of cure for SCD.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The new frontier of genome engineering with CRISPR-Cas9
Doudna, J. A., & Charpentier, E. (2014) · Science · doi:10.1126/science.1258096 · Cited by 7,062
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
Komor, A. C., Kim, Y. B., Packer, M. S., Zuris, J. A., & Liu, D. R. (2016) · Nature · doi:10.1038/nature17946 · Cited by 5,437
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
Charache, S., Terrin, M. L., Moore, R. D., Dover, G. J., Barton, F. B., Eckert, S. V., McMahon, R. P., & Bonds, D. R. (1995) · New England Journal of Medicine · doi:10.1056/nejm199505183322001 · Cited by 2,340
Sickle Cell Anemia, a Molecular Disease
Pauling, L., Itano, H. A., Singer, S. J., & Wells, I. C. (1949) · Science · doi:10.1126/science.110.2865.543 · Cited by 2,319
An efficient targeted nuclease strategy for high-resolution mapping of DNA binding sites
Skene, P. J., & Henikoff, S. (2017) · eLife · doi:10.7554/elife.21856 · Cited by 1,737
Genomewide Association Studies and Assessment of the Risk of Disease
Manolio, T. A. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0905980 · Cited by 1,512
Dunbar, C. E., High, K. A., Joung, J. K., Kohn, D. B., Ozawa, K., & Sadelain, M. (2018) · Science · doi:10.1126/science.aan4672 · Cited by 1,410
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia
Cavazzana-Calvo, M., Payen, E., Negre, O., Wang, G., Hehir, K., Fusil, F., Down, J., Denaro, M., Brady, T., Westerman, K., et al. (2010) · Nature · doi:10.1038/nature09328 · Cited by 1,276
Piel, F. B., Hay, S. I., Gupta, S., Weatherall, D. J., & Williams, T. N. (2013) · PLoS Medicine · doi:10.1371/journal.pmed.1001484 · Cited by 1,144
Research works printed but not linked: 1
- Sher F, 2017, Blood, 130, 286
Cited by
Sorted by citations
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
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
Steinberg, M. H. (2020) · Blood · doi:10.1182/blood.2020007645 · Cited by 136
Hematopoietic stem cells through the ages: A lifetime of adaptation to organismal demands
Kasbekar, M., Mitchell, C. A., Proven, M. A., & Passegue, E. A. (2023) · Cell stem cell · doi:10.1016/j.stem.2023.09.013 · Cited by 130
Metadata
- Authors
- Orkin, S. H., & Bauer, D. E.
- Affiliations
- Howard Hughes Medical Institute (US)
- Harvard University (US)
- Venue
- Annual Review of Medicine
- Publisher
- Annual Reviews
- Published
- 2019-01-27
- Volume
- 70
- Issue
- 1
- Pages
- 257-271
- ISSN
- 0066-4219 (ISSN-L)
- 1545-326X
- OpenAlex
- W2898389119
- Cited by
- 119
- References
- 77
- Citations by year
- 2026: 7 · 2025: 11 · 2024: 14 · 2023: 13 · 2022: 9 · 2021: 28 · 2020: 22 · 2019: 15
- FWCI
- 2.33
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Annual Review of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Howard Hughes Medical Institute
- St. Jude Children's Research Hospital
- National Heart, Lung, and Blood Institute (DP2OD022716, P01HL032262, R01HL032259, U01HL117720)
- National Institute of Diabetes and Digestive and Kidney Diseases (R03DK109232, DP2OD022716)
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Hemoglobin structure and function
- Keywords
- sickle cell disease, gene therapy, fetal hemoglobin, BCL11A, hereditary persistence of fetal hemoglobin, genome editing, lentiviral gene therapy, transcription factors
- MeSH terms
- Gene Editing, Anemia, Sickle Cell, DNA-Binding Proteins, Female, Forecasting, Humans, Male, Mutation, Repressor Proteins, Transcription Factors, Genetic Therapy, Genetic Predisposition to Disease
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
