New work on the gene that causes sickle cell disease could help pave the way for new gene therapy, say researchers.
The researchers set out to repair the gene that causes sickle cell disease in human stem cells, using the gene-editing tool CRISPR. They adapted haematopoietic stem cells from sickle cell patients so they could make a functioning haemoglobin molecule, then successfully transplanted the cells into mice. After 16 weeks, the corrected stem cells were thriving in the bone marrow of the mice.
This study represents a proof of concept for the repair of blood-borne genetic diseases, such as sickle cell disease and thalassaemia, say the team.
The team, led by Dr Matthew Porteus at the Stanford University School of Medicine, California, USA, reported the study in the 7 November issue of Nature.
"What we've finally shown is that we can do it," Dr Porteus said. "It's not just on the chalkboard. We can take stem cells from a patient and correct the mutation and show that those stem cells turn into red blood cells that no longer make sickled haemoglobin."
The new CRISPR technology allows much faster and easier gene-editing, he explains. "We spent half a dozen years trying to target the beta globin gene using the old technology, but within one week of trying CRISPR, we had an editing tool that worked much better."
It uses an enzyme to cut a selected DNA sequence and special RNA to guide the cut. In this case, that area is the sickle cell mutation. Then the mutated DNA sequence can be removed and other tools paste in a copy of the normal sequence.
Dever, D.P. et al. CRISPR/Cas9 beta-globin gene targeting in human haematopoietic stem cells. Nature 7 November 2016 doi: 10.1038/nature20134
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