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In a landmark study that could lead to new therapies for sickle cell anaemia and other blood disorders, UNSW-led scientists have used CRISPR gene editing to introduce beneficial natural mutations into blood cells to boost their production of foetal haemoglobin.
The research solves a 50-year-old mystery about how these mutations – which are naturally carried by a small percentage of people – operate and alter the expression of human genes.
The study, by an international team led by UNSW scientist Professor Merlin Crossley, is published in the journal Nature Genetics.
People with thalassaemia or sickle cell anaemia have defective adult haemoglobin – the vital molecule that picks up oxygen in the lungs and transports it around the body – and require life-long treatment with blood transfusions and medications.
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