Ongoing Research in ICCs
The investigators propose to develop genetic therapies that precisely correct the faulty genes in the heart itself, thus providing a new treatment for, and ultimately curing, cardiomyopathies.
The investigators propose to develop genetic therapies that precisely correct the faulty genes in the heart itself, thus providing a new treatment for, and ultimately curing, cardiomyopathies.
The Cardiovascular Rare Disease Node
The Cardiovascular Rare Disease Node is bringing researchers from across the UK together to tackle fundamental challenges in our understanding of rare inherited cardiovascular conditions (ICCs), in partnership with patients, their families, and others affected by these conditions. ICCs represent a challenging health burden, with at least 1 in 200 people affected with a rare cardiovascular condition.
They include the commonest causes of sudden death in young adults and the leading causes of heart transplantation. For patients with ICCs, identification of a precise genetic cause can be transformative, enabling appropriate management of patients, and informing care of their families. Currently however, genetic testing is inconclusive for most patients and gaps in our understanding limit us being able to use genomic data in clinical management. The Cardiovascular Rare Disease Node is addressing this need and opportunity.
Their strategy is to build on NHS clinical genetic testing pathways to give all those in the UK with a rare cardiovascular disease an opportunity to participate in research by uniting data about their heart and their genes for use in research. They are working with the NHS Genomic Medicine Service, NHS England, Genomics England, and the British Heart Foundation Data Science Centre, alongside researchers and patient organisations such as Cardiomyopathy UK, to bring together data that has been previously used in isolation and make it available to the clinical and research communities via a single secure environment. They will also build a register of those willing to participate in future research, and connect them with research studies, including studies of new therapies.
The cardiovascular node is embedded in the MRC Laboratory of Medical Sciences, a biomedical discovery research institute located at Imperial College London Hammersmith Campus.
