Mira Kassouf: Reactivating An Embryonic Gene To Treat α-Thalassemia
Mira Kassouf, Principal Investigator at University of Oxford, shared a post on LinkedIn about a recent article she and her colleagues co-authored, published in Nature Genetics, adding:
”Very excited to see our work now published in Nature Genetics!
‘Reactivation of the embryonic ζ-globin gene ameliorates severe forms of α-thalassemia’
This work started with a fundamental question: how is an embryonic gene switched off during development, and could we switch it back on?
Using the α-globin locus as our model, we identified key regulatory DNA elements that silence the embryonic ζ-globin (HBZ) gene. By precisely editing these elements, we were able to reactivate ζ-globin in mouse models and, importantly, in primary erythroid cells from patients with severe α-thalassaemia.
The work provides proof-of-principle for an exciting therapeutic concept: rather than replacing a missing or defective adult gene, could we unlock a functional gene that our genome already contains but has switched off during development?
This has been a fantastic team effort, led by Siyu Liu, and made possible by the contributions of many colleagues and collaborators. I am particularly grateful to the patients and families who contributed samples to this research.
The next phase of this work will focus on advancing the approach towards a regulatory-ready stage, addressing the efficacy, safety and delivery requirements needed to support future clinical translation and, ultimately, its development as a therapy for severe α-thalassaemia.
A huge congratulations and thank you to everyone involved!”
Title: Reactivation of the embryonic ζ-globin gene ameliorates severe forms of α-thalassemia
Authors: Siyu Liu, Ayesha Ejaz, Andrew J. King, Aude-Anais Olijnik, Jacqueline Sloane-Stanley, Caroline Scott, Ali Amid, Daniel Biggs, Benjamin Davies, Jennifer Eglinton, Gabriella Martyn, Merlin Crossley, Christian Babbs, Mira T. Kassouf, Douglas R. Higgs
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