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CMFT doctor awarded prestigious British Heart Foundation Fellowship to study a rare inherited heart rhythm condition

Dr Claire Bailey, Specialty Registrar in Clinical Genetics, has been awarded a prestigious British Heart Foundation (BHF) Clinical Research Training Fellowship to further her research into a rare cardiac condition which can cause the sudden and unexpected death of young people.

BHF Clinical Research Training Fellowships are awarded to outstanding medically qualified graduates to provide them with a foundation in research training in an established research institution in the UK, such as The University of Manchester.

The fellowship comes on the back of Dr Bailey's previous research into Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a condition characterised by heart rhythm disturbances which can lead to cardiac arrest and sudden death. In 2014 Dr Bailey received funding from the Trust Charitable Funds to support her research into the molecular characterisation of CPVT, after a novel mutation in RYR2, a gene linked to CPVT, was identified in a young women who suffered a cardiac arrest.

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Dr Bailey studied this novel mutation through the use of human induced pluripotent stem cells with international expert Prof Lior Gepstein in Israel. The stem cells for this project were created by a skin biopsy being taken from the patient and cells from the biopsy were then genetically reprogrammed so that they could be transformed into different cell types. These stem cells were then transformed into heart muscle cells. This allowed Dr Bailey to study the behaviour of these cells which have the same genetic make-up as the patient without having to do an invasive heart biopsy.

Dr Bailey found significant abnormalities in the calcium handling in these cells. However, further work was needed to fully understand the underlying mechanism by which this mutation causes abnormal heart rhythms and also why only some members of the family who carry the mutation seem to be at risk of developing abnormal heart rhythms whilst other are not.

Dr Bailey has now successfully secured a BHF Clinical Research Training Fellowship to continue this work. She will use the human induced pluripotent stem cells to further understand the how this novel mutation results in abnormal heart rhythms which can lead to sudden death. In addition to this she will also investigate the factors which lead to some mutation carriers being affected whilst others are not. It is hoped that this research will further the understanding of mechanisms which can cause CPVT and also provide insights which will help direct the most effective treatments to individuals at risk.

Dr Bailey said:"If we are able to further understand the mechanism by which this mutation causes abnormal heart rhythms we will be able to investigate which therapies are most effective at reducing the risk of cardiac arrest.

"This research will also hopefully provide us with a better understanding of why some individuals who carry mutations associated with CPVT are affected whilst others are not. This is something which makes the management and risk stratification of patients with CPVT exceptionally challenging.

"We hope that this research will provide valuable information for doctors and patients and will allow effective treatments to be directed to at risk individuals helping to reduce the mortality associated with the condition."