12 April 2018

Research suggests that a novel approach to gene editing could be used in sickle cell anaemia and other red cell diseases by targeting regulators of foetal haemoglobin.

The method involves re-engineering naturally occurring, benign mutations, known to be beneficial to people with these conditions, say the researchers led by Professor Merlin Crossley of the University of New South Wales, Australia.

"Our new approach can be seen as a forerunner to 'organic gene therapy' for a range of common inherited blood disorders including beta thalassaemia and sickle cell anaemia," says Professor Crossley.

"It is organic because no new DNA is introduced into the cells; rather we engineer in naturally occurring, benign mutations that are known to be beneficial to people with these conditions. It should prove to be a safe and effective therapy, although more research would be needed to scale the processes up into effective treatments."

The team used CRISPR gene editing to target two genes, BCL11A and ZBTB7A, that switch off the foetal haemoglobin gene.

Professor Crossley says: "The foetal haemoglobin gene is naturally silenced after birth. For 50 years, researchers have been competing furiously to find out how it is switched off, so it can be turned back on. Our study, which is the culmination of many years of work, solves that mystery.

"We have found that two genes switch off the foetal haemoglobin gene by binding directly to it. And the beneficial mutations work by disrupting the two sites where these two genes bind.

"This landmark finding not only contributes to our appreciation of how these globin genes are regulated. It means we can now shift our focus to developing therapies for these genetic diseases using CRISPR to target precise changes in the genome."

Source: Martyn, Gabriella E., et al. "Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding." Nature Genetics (2018): 1.

Link: https://www.nature.com/articles/s41588-018-0085-0


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