Finding ways to prevent and treat pulmonary arterial hypertension (PAH)
Professor Nicholas Morrell (lead researcher)
University of Cambridge
Start date: 01 January 1900 (Duration 4 years)
National cohort study of idiopathic and heritable pulmonary arterial hypertension (renewal)
Pulmonary arterial hypertension (PAH) is a rare but severe disease caused by the narrowing and loss of blood vessels in the lung. People with PAH experience severe breathlessness, even when resting. Patients may need a lung or heart and lung transplant, and it is often fatal. In some people, PAH is caused by a rare gene mutation passed down in families. In others the cause is unknown. In 2013, Professor Morrell set up the UK National Cohort Study of Idiopathic and Heritable Pulmonary Arterial Hypertension (PAH), which recruited 863 people with PAH to have their genomes sequenced. The aim is to discover new mutations that cause PAH. The genome data was combined with clinical information, and a number of gene changes associated with PAH have been found, including some that put people at increased risk, or can predict their clinical outcome. This has led to a new genetic test for PAH being made available on the NHS. A further 617 people have since been recruited into a follow up study where they will give multiple samples over time to study possible markers for PAH as part of continued efforts to understand the metabolites and proteins affected by these gene changes. The BHF is now funding the next phase of this study, which will allow the team to continue recruiting and monitoring patients and their relatives, paving the way to new treatments for this condition.
Project details
Grant amount | £1,641,103 |
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Grant type | Chairs & Programme Grants |
Application type | Special Project |
Start Date | 01 January 1900 |
Duration | 4 years |
Reference | SP/18/10/33975 |
Status | In Progress |