Author

J. Sloane-Stanley

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#gene editing Open access Oct 2026

Reactivation of the embryonic ζ-globin gene ameliorates severe forms of α-thalassemia.

Hemoglobinopathies are the most common inherited anemias worldwide. While most carriers are asymptomatic or mildly affected, severe forms of α-thalassemia, including severe hemoglobin H (HbH) disease and surviving individuals with Hb Bart's hydrops fetalis syndrome (BHFS), require lifelong transfusion support or stem c...

Si-Yu Liu, A. Ejaz, Andrew J. King et al. · Nature Genetics · 0 citations

Open access Sep 2026

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

PURPOSE Unravelling causal links between unique structural/copy-number variants (SV/CNV) and associated phenotypes is essential for correct genetic counselling. We investigated two families in which patients with craniosynostosis had SV/CNV potentially dysregulating a fibroblast growth factor (FGF)-encoding gene; a 730...

D. Korona, Akiko Hashimoto, Yang Pei et al. · Genetics in Medicine · 0 citations