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Abdominal Aeortic Aneurysm Research
Posted on 28/04/08
J. Milton
Researchers into abdominal aortic aneurysm (AAA) at the University of Leicester have received over 900,000 funding from the Wellcome Trust as part of a 30M international initiative.
The Leicester researchers are leading an international group of collaborators investigating a disease that is the eighth most common cause of death in England and Wales.
Matt Bown, Lecturer in Surgery, and Rob Sayers, Professor of Vascular Surgery, at the University of Leicesters Department of Cardiovascular Sciences, together with Professor Nilesh Samani and Professor John Thompson, are carrying out genetic research into AAA, a disease that affects the main artery in the body, the abdominal aorta.
Over the past five years the Leicester research group has been working with other groups around the world (University of Leeds, University College London, St Georges University of London, Imperial College London, The Royal West Sussex NHS Trust, James Cook University, Australia and Otago Medical School, New Zealand) to collect enough DNA samples from patients with AAA to be able to carry out this project.
The funding from the Wellcome Trust is for a genetic screen for patients with the condition. This will identify the genetic variations that are associated with AAA and will aid scientists understanding of the pathological process involved in the diseases development.
Matt Bown, Principal Applicant for the project, commented: This research will take us closer to developing drug treatments for AAA and potentially save the lives of thousands of people each year.
In people with AAA, the diseased blood vessel becomes enlarged and weakens. When an AAA becomes very large it can rupture, resulting in catastrophic blood loss and death in the majority of people who are unfortunate enough to suffer this complication.
Matt Bown explained the significance of his research: AAA affects 6 per cent of males over 65 years of age. The majority of deaths are due to rupture, an event that only occurs after many years of slow growth. Unfortunately the only strategy to prevent rupture is complex high-risk surgery.
However, due to the long latent period when the aneurysm is growing and readily detectable by a simple ultrasound scan, there is an excellent opportunity to prevent the need for surgery or progression to rupture by pharmacological treatment.
Currently no pharmacotherapeutic agent has been identified to treat aneurysms and this is partly because the exact biological processes that lead to AAA formation are unknown.
Scientists know that genetics play an important part in the development of AAA. People who have first-degree relatives with AAAs are at a higher risk of developing an AAA themselves.
Traditional methods for determining the genetic basis of diseases (linkage and candidate gene studies) have failed to identify the genetic changes that are associated with AAA. Recent technological advances now mean that it is possible to screen the whole of a persons genetic code for almost all of the common variations that exist between individuals.
By comparing the patterns seen in several thousand people with and without a particular disease it is possible to identify the genes that are associated with the disease. This approach to determining the genetics of complex diseases has recently been shown to be effective and has produced results for diseases such as coronary artery disease, where Leicester have also been a leading centre and Diabetes Mellitus.
The funding from the Wellcome Trust is awarded as part of a 30M national follow-up study to the Wellcome Trust Case Control Consortium, the largest ever study of the genetics of common disease, which was hailed as a major breakthrough in medical science in a number of prestigious journals including Nature and The Lancet.
The national study will collect DNA samples from 120,000 people, allowing researchers across the country to look at 25 diseases, as well as studying the genetics of learning in children and individuals responses to statins.
This will be one of the most ambitious studies ever undertaken, bringing together leading research groups from 16 institutions in the UK and internationally. Over the next two years it is expected to analyse as many as 120 billion pieces of genetic data in the search for the genes underlying diseases such as multiple sclerosis, schizophrenia and asthma.
The initiative has identified a number of new genes and regions of the human genome which increase peoples susceptibility to or protect them from particular diseases.
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