Beta-thalassaemia is a common form of inherited anaemia caused by reduced production of the beta-globin chains that, along with alpha globin chains, form haemoglobin, the major oxygen carrying molecule in the body. The disrupted balance between the two chains leads to damage to developing red blood cells and is the major pathophysiological driver of the anaemia. Whilst treatments for the symptoms are available they are not without their side-effects; beta-thalassaemia still causes thousands of premature deaths each year and so a curative therapy is desperately needed. Gene therapy using the recently developed CRISPR/Cas9 genome-engineering system offers itself up as an attractive therapeutic strategy.
My project aims to develop a gene-editing cure for beta-thalassaemia, with two major goals: 1) to identify and edit key regulatory sequences in the alpha-globin locus to restore globin-chain balance and ameliorate the anaemia. 2) to identify which fraction of the haematopoetic stem cell compartment should be edited to generate an efficient and acceptable therapy. We hope that if we are successful our project can be a model for developing cures for a wide range of genetic diseases. I am a Haematology registrar taking time out from training to undertake basic scientific research. I graduated from the University of Cambridge and trained as a paediatrician in North-East London prior to my current role.