Journal: Nature Genetics
Affiliations: 3Go to article
A ‘natural’ gene therapy for blood disorders
© Narupon Promvichai/EyeEm/Getty
By reproducing naturally occurring mutations that elevate the production of foetal haemoglobin, a new CRISPR-based gene therapy could help treat inherited blood disorders such as sickle cell disease and β-thalassemia.
The mutations are found in patients with a benign condition called ‘hereditary persistence of foetal haemoglobin’, or HPFH, in which the γ-globin that is normally switched off after birth remains active.
A team led by scientists at the University of New South Wales identified two repressor proteins that normally bind part of the γ-globin gene at specific sites where mutations responsible for HPFH occur.
Using CRISPR gene-editing technology, they introduced HPFH-associated mutations into blood-forming cells and saw elevated expression of the γ-globin gene.
This finding helps clarify how these mutations prevent gene silencing, and it highlights a potential way to reactivate foetal haemoglobin production using genetic changes known to be safe in people.
- Nature Genetics 50, 498–503 (2018). doi: 10.1038/s41588-018-0085-0
|School of Biotechnology and Biomolecular Sciences (BABS), UNSW, Australia||0.83|
|Japanese Red Cross Central Blood Institute, Japan||0.08|
|RIKEN Cell Engineering Division, Japan||0.08|