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Article

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

Nature communications - 14 May 2015

Wienert Beeke, Funnell Alister P W, Norton Laura J, Pearson Richard C M, Wilkinson-White Lorna E, Lester Krystal, Vadolas Jim, Porteus Matthew H, Matthews Jacqueline M, Quinlan Kate G R, Crossley Merlin

Abstract excerpt

Genetic disorders resulting from defects in the adult globin genes are among the most common inherited diseases. Symptoms worsen from birth as fetal γ-globin expression is silenced. Genome editing could permit the introduction of beneficial single-nucleotide variants to ameliorate symptoms. Here, as proof of concept, we introduce the naturally occurring Hereditary Persistance of Fetal Haemoglobin (HPFH) -175T>C...

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Identifiers

PMID: 25971621
DOI: 10.1038/ncomms8085

Genes

TAL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin.PMID 25971621Read ↗

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Genome Editing for β-Hemoglobinopathies: Advances and ChallengesSemantic proximity Read ↗

Disrupting the adult globin promoter alleviates promoter competition and reactivates fetal globin gene expressionSemantic proximity Read ↗

Elevating fetal hemoglobin: recently discovered regulators and mechanismsSemantic proximity Read ↗

Editing the core region in HPFH deletions alters fetal and adult globin expression for treatment of β-hemoglobinopathiesSemantic proximity Read ↗

Identification of novel HPFH-like mutations by CRISPR base editing that elevate the expression of fetal hemoglobinSemantic proximity Read ↗

A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition.Semantic proximity Read ↗

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