Pulmonary arterial hypertension (PAH) – severe high blood pressure in the lungs – is a rare disease currently known to affect 6,500 people in the UK and 70,000 in North America, Europe and Japan. This incurable condition usually affects young women, who die within 3 to 5 years of diagnosis.
Cambridge University research showed that mutations in the bone morphogenetic protein type II receptor (BMPR2) pathway causes >25% of PAH cases characterised by particularly severe disease in the youngest patients.
This discovery has led directly to routine genetic testing for BMPR2 pathway mutations in PAH patients across the world and the development of new treatments targeting the BMP pathway, commercialised through a University of Cambridge spin-out company, Morphogen-IX.
Several European countries have now adopted routine genetic testing in PAH, most notably in France and Germany.
In 2019, Nick Morrell established an International Consortium for the Genetics of PAH, a collaborative network of 34 institutions from 10 countries in Europe and North America to encourage appropriate genetic testing, to curate causative mutations to inform clinicians, and to provide a platform for genetic discovery.
Together, these advances are enabling earlier diagnosis and tailored treatment, bringing hope of a cure to those diagnosed with this terminal disease.