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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.
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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
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