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
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.
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
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."