Special publication details breakthrough research on causes of vascular disease

Published on January 6, 2014 at 6:12 AM · No Comments

The world's leading voices in the fight against Pulmonary Hypertension have compiled a special publication detailing the breakthrough research into the causes of this debilitating vascular disease.

Co-author Dr Rajiv Machado, from the School of Life Sciences, University of Lincoln, UK, attended the World Symposium on Pulmonary Hypertension in 2013 as an invited member of the symposium's genetics and genomics task-force.

Papers arising from this conference, which brought together the most respected clinicians and scientists in the field, have now been compiled in a special edition of Journal of the American College of Cardiology.

The symposium, which discussed several forms of resistance in lung vessels including those associated with common disorders such as congenital heart disease and HIV, resulted in a powerful consensus around key issues and recommendations.

The replication and extension of these studies should serve to further define the genetic landscape surrounding vascular disease.

Dr Machado said: "The aim of the symposium was to report new information and how this could then be translated into clinical medicine by providing novel targets for therapy. The results have now been published as the definitive scientific consensus on this area of disease."

Dr Machado's main research focusses on Pulmonary Arterial Hypertension (PAH), a progressive disorder characterised by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs.

Symptoms include shortness of breath, dizziness, swelling (oedema) of the ankles or legs, chest pain and a racing pulse.

Dr Machado was part of a team that discovered the primary gene that causes PAH and has since gone on to investigate the disease pathway, isolating more contributory genetic mutations.

As reported at the symposium, Dr Machado's investigation of 300 patients with disparate forms of PAH - the largest study of its kind - resulted in the identification of three novel genes which appear to cause pulmonary dysfunction.  

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