Work to identify genes that causes a deadly heart condition will pave the way for new and more effective personalised treatments, say researchers.

Professor Martin Wilkins, Vice Dean (Research) for the Faculty of Medicine at Imperial College London, and Dr John Wort, Clinical Lead for Pulmonary Hypertension (PAH) at the Royal Brompton Hospital, presented their research on PAH at the recent Imperial College Academic Health Science Centre (AHSC) seminar series.

Professor Wilkins spoke about his work to discover and understand the genes that causes PAH in the video above.

PAH is raised blood pressure in the arteries that carries blood to the lungs.  It causes the arteries to become thick and stiff, ultimately leading to right heart failure.   The disease is sometimes associated with people with congenital heart disease or rheumatological conditions but in some cases the causes are unknown, called ‘idiopathic’ PAH.

There is no cure for PAH and treatment includes drugs to open up the blood vessels known as pulmonary vasodilators, and diuretics to remove excess fluid as a result of heart failure. 

In severe cases, patients may be suitable for lung or heart transplantation but there is a risk in some cases of the body rejecting the new organs.  Overall, only 65 per cent of patients with idiopathic PAH, who are treated for the disease, survive beyond three years.

Professor Wilkins outlined the findings of a recent genetic study involving all the specialist centres in the UK where patients with PAH are seen. He and his collaborators studied 1000 patients with PAH, where the initial cause of their disease was unknown. The results revealed previously unknown mutations in four genes that are responsible for the condition. He explained that this should help the development of new treatment options and a way of targeting therapies to specific patients.

He also shared his work on studying inhabitants of high altitude environments such as Tibet.   These inhabitants have adapted to living in low oxygen conditions and this could be as a result of their genes. Mimicking this with drugs may help people with PAH because these patients also struggle to get enough oxygen into their blood.

In the video above, Dr Wort shared his work to develop more personalised treatments for PAH patients and to identify patients at risk of the disease.

He explained better survival rates of the disease will be achieved by patients being treated earlier with a personalised medicine approach.For instance, patients will be treated with new drugs based on their specific gene defects, or have their medicine regimen tailored to the amount and type of circulating proteins in the blood, which may be involved in the development of PAH. He argued this will be more effective than current guidelines, which suggest treatment be administered once the disease advances and not based on patient specific information. 

He also outlined plans to identify and stratify patients according to their response to treatments and their overall risk.  The idea is to intervene earlier with treatments to manage the disease and improve the quality of  and length of life for PAH patients.

The seminar was the third in a series at the Royal Brompton Hospital designed to showcase the work of the AHSC, a partnership between Imperial College London and three NHS Trusts.

The next event will be on ‘Big Data approaches to healthcare research’ and will take place at the Royal Marsden Hospital from 12:30.

The talk will be delivered by Dr Aldo Faisal, a Senior Lecturer in Neurotechnology jointly at the Department of Bioengineering and the Department of Computing at Imperial College London, and Erik Mayer, Consultant Surgeon at The Royal Marsden NHS Foundation Trust.