Research
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At Max’s Foundation, we have a continued commitment to supporting research into inherited heart conditions in young children.
This has included funding research positions, supporting services for young people affected by cardiomyopathies, and supporting families impacted by life-threatening or life-limiting conditions.
WITHOUT THE FUNDING FROM MAX'S FOUNDATION FOR THE RESEARCH NURSE POST, THE RESEARCH PROGRAMME DEVELOPED OVER THE LAST FIVE YEARS WOULD NOT HAVE BEEN POSSIBLE.
DR JUAN KASKI, DIRECTOR OF THE CENTRE FOR INHERITED CARDIAC DISEASES AT GOSH AND MAX'S FOUNDATION AMBASSADOR.
“The research nurse funded by Max’s Foundation (Ella Field) has been instrumental in allowing the development of the Paediatric Inherited Cardiovascular Diseases Research Group at University College London Institute of Cardiovascular Science, which has now successfully been upgraded to a new UCL Centre (the Centre for Paediatric Inherited and Rare Cardiovascular Disease).
Ella has been involved in recruitment of patients to the GOSH BIOPIC Study (Measuring Biomarkers in Children with Inherited Cardiovascular Disease – over 2500 samples have now been collected from over 600 patients, creating the first UK biorepository for paediatric inherited cardiac conditions).
Her work also involves collating and inputting the clinical data for several multicentre international research projects. She has also been involved in coordinating and facilitating deep phenotyping clinics, which were established in 2019 to help us better characterise paediatric hypertrophic cardiomyopathy by undertaking detailed imaging in diagnosed children.
In addition, she has been gathering and organising patient data to form the basis of a new clinical research database for our specialist service, covering the whole range of inherited cardiovascular diseases and including both current and historic patient populations.
This database is now complete and has already enabled us to identify specific cohorts of patients within our patient population warranting further investigation.
New projects have already been initiated using the data collected, and have resulted in publications in high-impact factor journals. Ella has taken the lead in one particular project, characterising MYBPC3 gene variants in childhood hypertrophic cardiomyopathy, and her work has been published in the Journal of Medical Genetics and presented at major international conferences.
Without continued funding for the research nurse, the Centre’s entire research programme would be at risk. It would be very difficult to continue to lead international registry studies or coordinate recruitment into the biobank, which would in turn reduce the chance of further successful grant funding.
The role of the research nurse, funded by Max’s Foundation, is critical to the continued development of our internationally recognised research programme into heart muscle disease in children, at a time when we are making significant strides into understanding early disease development and identifying opportunities for disease prevention.”
We have committed to funding Ella for a further two years and we are also funding a research assistant to help on these projects.