PAH affects about 6,500 people in the UK, mostly women in their 30s, though it can affect people of any age, and is caused by a narrowing of the blood vessels that lead from the heart to the lungs.
Although current therapies may alleviate some of the symptoms there are no medical options that modify the outcome of the disease. Given the relatively young average age of diagnosis and the high mortality rate associated with PAH, it has a devastating impact on both sufferers and their families.
Work by Professor Nick Morrell, Director of the BHF (British Heart Foundation) Centre for Research Excellence, and his team at the University of Cambridge’s Department of Medicine at Addenbrooke’s Hospital, has identified a mutation in the gene for a specific protein called 'bone morphogenetic protein receptor type 2' (BMPR2) which may be important in the disease.
Prof Morrell's team was the first to show how alterations in BMPR2 reduce signals sent to the cells lining the lung blood vessels, leading to faulty control of cell growth. By understanding this pathway the team has found that the naturally occurring protein BMP9 has the potential to reverse the condition.
Morphogen-IX is now using this knowledge of the pathway to create a treatment for PAH, which has the potential to be transformational to the lives of sufferers.
CIC point of contact: Robert Tansley