Scientists in Australia have tested a new form of genome therapy that could help patients with sickle cell disease and thalassaemia.
The team, from the University of New South Wales, introduced a beneficial natural mutation into blood cells using the gene-editing technique CRISPR. This was shown to switch on production of foetal haemoglobin, potentially benefiting patients with thalassaemia or sickle cell anaemia.
This beneficial natural mutation, called British-198, is carried by some patients with these diseases. This patient group tends to have less severe symptoms thanks to the foetal haemoglobin gene switched on by the mutation. It is normally turned off at birth.
Professor Merlin Crossley and his team explain that the extra foetal haemoglobin has a very strong affinity for oxygen, and can carry out the work that is not possible for defective adult haemoglobin.
Professor Crossley says: 'With CRISPR gene-editing we can now precisely cut and alter single genes within our vast genome. Our laboratory has shown that introducing the beneficial mutation British-198 into blood cells using this technology substantially boosts their production of foetal haemoglobin.
'Because this mutation already exists in nature and is benign, this 'organic gene therapy' approach should be effective and safe to use to treat, and possibly cure, serious blood disorders. However, more research is still needed before it can be tested in people.'
Details appeared on Last week in Blood. The authors write: 'Boosting foetal haemoglobin expression is seen as an attractive therapy. Here we use CRISPR-mediated genome editing to introduce the 198 substitution into human erythroid cells and show that this mutation is sufficient to substantially elevate expression of foetal haemoglobin.'
Professor Crossley adds: 'A large number of stem cells would have to be edited in order to repopulate the patients' blood with genetically enhanced cells.'
Source: Wienert, B. et al. KLF1 drives the expression of fetal hemoglobin in British HPFH. Blood 17 July 2017; doi: 10.1182/blood-2017-02-767400
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