Around 20,000 people in Ireland are diagnosed with inflammatory bowel diseases (IBD), chronic inflammatory gastrointestinal disorders primarily affecting adults in the prime of their life. There are two major forms of IBD, Crohn’s disease (CD) and Ulcerative Colitis (UC) which are life-long conditions for which there is currently no known cause or cure.
Onset is typically in childhood or in young adults so IBD has potential to impact educational performance and work productivity, as well as quality of life. Crohn’s Disease is associated with increased mortality in the Irish population and there is an increased risk of colon cancer to people with either Crohn’s disease or Ulcerative Colitis. Ireland has one of the highest rates of Colitis in the world.
The role of genetics in IBD has been widely accepted since the identification of a linkage region containing the NOD2 gene in Crohn’s disease patients. Previous international studies have identified large stretches of DNA that are associated with IBD, and some genes have been strongly linked to the development of IBD. However, the risk genes that have been identified only explain a small proportion of IBD disease risk, meaning that there are many genetic and environmental risk factors yet to be identified.
Sean Ennis, Chief Scientific Officer, Genomics Medicine Ireland said; “Our research is focused on new discoveries leading to the prevention of IBD. We will be examining the underlying genetic changes using techniques such as whole genome sequencing to identify both common and rare variants associated with IBD. We will also study other structural changes in the genome and how changes in our genetics contribute to IBD disease risk, progression and drug response.”
Prof. Glen Doherty, Consultant Gastroenterologist, St Vincent’s University Hospital said; “What makes this research different from other studies is that we are seeking to identify the gap between current treatments and disease outcomes. As we gain a better understanding of the role of genetics in IBD and in an individual’s response to different drug treatments, it will enable a more personalised approach to the treatment of the condition. By participating in the study, patients are helping in the development of better diagnostics and therapeutics for the treatment and prevention of IBD.”
Prof. Deirdre McNamara, Consultant Gastroenterologist, Tallaght Hospital said; “This study will enable us to gain a comprehensive understanding of the interactions between genes, environment, biology and the disease. IBD has evolved into a global disease – over 2.5 million in Europe and 1 million residents in the USA are estimated to have IBD, while its prevalence is also on the rise in newly industrialised continents. Irish IBD patients have an opportunity to contribute to potentially life-changing research that will benefit not just our patients here in Ireland but potentially people with IBD throughout the world”.
Sara Byrne has been living with IBD since she was 15 year old. Speaking at the launch of the study, Sara who is now 27 said: “I’ve had three major surgeries to try and bring my condition under control. As someone living with IBD the hope is that a cure will be found sometime in the future. The more we increase our understanding of IBD through research such as this, the better chance we have of finding that cure or at least improving the treatments available so that if you are living with IBD, its impact on your day to day life is minimised. It’s really important that as many IBD patients as possible participate in this study to help us on this journey”.
People with IBD attending either St. Vincent’s University Hospital or Tallaght Hospital who are interested in participating in the study can ask their consultant for more information.
Genomics Medicine Ireland also hopes to extend the study to other hospitals in the near future.
 Irish Society for Colitis and Crohn’s Disease, (http://www.iscc.ie/#!about/c126y)
 O’Toole et al, 2014
 Hugot et al, 1996.
 Kaplan Gilaad G, 2015: Global Burden of IBD: From 2015 – 2025