Great Ormond Street Hospital NHS Trust

Heathcare provider: Great Ormond Street Hospital is one of the world’s leading children’s hospitals with the broadest range of dedicated, children’s healthcare specialists under one roof in the UK. The hospital’s pioneering research and treatment gives hope to children with the rarest, most complex and often life-threatening conditions. The patients and families are central to everything Great Ormond Street Hospital does – from the moment they come through the door and for as long as they need medical care. There are over 1000 research projects being carried out at Great Ormond Street Hospital and the UCL Institute of Child Health as part of their research programme, which aims to develop treatments and cures for conditions affecting children and adolescents.

Centre for rare and complex heart diseases: The Great Ormond Street Hospital Centre for Inherited Cardiovascular Diseases is the largest service in Europe dedicated to the evaluation and management of the full range of inherited cardiac conditions (ICC) in children and adolescents, with over 5000 outpatient appointments annually and over 600 new referrals per year. Patients and families are seen in dedicated, disease-specific clinics, by a specialist multidisciplinary team that includes paediatric ICC specialist physicians, clinical nurse specialists, genetic counsellors and clinical psychologists. The Great Ormond Street Hospital Centre for Inherited Cardiovascular Diseases is a national referral centre for paediatric hypertrophic cardiomyopathy (HCM), receiving referrals from all UK paediatric cardiology tertiary centres as well as from the Republic of Ireland. In addition, the Centre for Inherited Cardiovascular Diseases provides a specialist paediatric HCM outreach clinic three times a year in Scotland. The research programme of the Centre is targeted towards the clinical and genetic characterisation of paediatric ICC, in particular HCM and sudden cardiac death, and is focused on:

  • Using clinical, imaging and whole-omics (including genomics, proteomics and metabolomics) approaches to identify early features of disease expression, with a view to developing novel treatments to prevent disease development and progression;
  • Identification of individuals at risk of complications, including SCD and heart failure. In this context, the Great Ormond Street Hospital Centre for Inherited Cardiovascular Diseases is leading a number of international consortia on paediatric HCM, including an international research collaboration (the Paediatric Hypertrophic Cardiomyopathy Risk Consortium) aimed at developing a novel risk stratification algorithm for paediatric HCM. The Centre has also established the first UK paediatric ICC biobank.

Dr. Juan Pablo Kaski is a cardiologist and the representative member of the Great Ormond Street Hospital NHS Trust in ERN GUARD-HEART.