Centre for Inherited Cardiovascular Diseases at GOSH.
When we set up the Charity, we decided we wanted to raise funds for research into the early detection of hypertrophic cardiomyopathy and other genetic heart conditions. Together with the Great Ormond Street Charity, we have been and continue to be fundraising for the Centre for Inherited Cardiovascular Diseases at Great Ormond Street Hospital, the largest centre in the UK dedicated to the evaluation and management of the full range of inherited cardiac conditions in children.
The Centre is headed by Dr Juan Pablo Kaski, a leading consultant paediatric cardiologist and we are proud to say, our Ambassador. His clinical and research interests are focused on the clinical and genetic characterisation of inherited cardiovascular disease and sudden cardiac death in childhood. He won the Young Investigator Award for Clinical Science from the European Society of Cardiology in 2008 for his work on the genetic basis of pre-adolescent hypertrophic cardiomyopathy.
The Centre’s focus is on paediatric inherited cardiac conditions, with a special interest in hypertrophic cardiomyopathy (HCM). Its aims are firstly to be able to identify HCM in children, develop therapies to halt the progression of HCM and eventually prevent the manifestation of HCM itself.
We are delighted to have funded a new role of Research Nurse, Ella Field at the Centre for a 5 year contract.
In addition, we are also co-funding a Research Assistant for the Centre, who will help Ella with these exciting Research Projects.
"In my previous role as a clinical nurse specialist for the Inherited Cardiovascular Disease service at GOSH, I met many hundreds of patients in our clinics and saw at first hand the impact of these conditions on children and their families.
Our large population of paediatric patients offered the potential to explore and understand the development and progression of these diseases and to identify more effective treatment and monitoring strategies, but we did not have the capacity within our team to dedicate time to this work.
The incredibly generous support of Max’s Foundation has enabled the creation of a new research nurse position, allowing time and resources to be targeted specifically towards a better understanding of inherited cardiovascular disease in children.
My role involves recruiting our patients and their families to take part in research projects, gathering clinical data and analysing test results to help improve our understanding of this group of heart conditions.
Our work is currently focusing on the early stages of disease development in children and teenagers, specifically in those affected by hypertrophic cardiomyopathy. We are aiming to characterise the subtle early signs of disease onset, which will not only aid diagnosis, but will allow us to more readily identify patients who can benefit from newly developing treatments.
Without the support of Max’s Foundation, this investigative work simply could not take place and we are hugely grateful to all of those who have donated to Max’s Foundation to make this possible.” Ella Field
In August 2019, this research began to bear fruit as GOSH announced that they had developed the first ever tool to identify children at risk of sudden death ftom Hypertrophic Cardiomyopathy.