October 2017 | Deireadh Fómhair 2017

Genomic Research in Inflammatory Bowel Disease

Wed, 25 October 17 14:52

Irish life sciences company, Genomics Medicine Ireland Ltd. today announced a new research collaboration with leading Dublin hospitals St. Vincent’s University Hospital / University College Dublin Clinical Research Centre and Tallaght Hospital which aims to identify genetic markers that can help diagnose, predict disease severity and identify personalised treatments for people with Inflammatory Bowel Disease (IBD). People with IBD are being invited to participate in the study, which is the first comprehensive genomic study of IBD to be undertaken in Ireland. 

Around 20,000 people in Ireland are diagnosed with inflammatory bowel diseases (IBD)[1], 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[2] 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[3].  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. 

Dr Sean Ennis, Chief Scientific Officer, Genomics Medicine Ireland and Assistant Professor at the UCD School of Medicine 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 at St Vincent’s University Hospital and UCD Clinical Professor 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[4] 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.

About inflammatory bowel diseases

Inflammatory bowel disease (IBD) is an umbrella term used to describe disorders that involve chronic inflammation of your digestive tract. Types of IBD include:

  •  Ulcerative colitis. This condition causes long-lasting inflammation and sores (ulcers) in the innermost lining of your large intestine (colon) and rectum.
  • Crohn's disease. This type of IBD is characterised by inflammation of the lining of your digestive tract, which often spreads deep into affected tissues.

Both Ulcerative colitis and Crohn's disease usually involve severe diarrhoea, abdominal pain, fatigue and weight loss.  The exact cause of inflammatory bowel disease remains unknown. Previously, diet and stress were suspected, but now doctors know that these factors may aggravate but don't cause IBD.  IBD can be debilitating and sometimes leads to life-threatening complications.  There is an established link between IBD and an increased risk of developing cancer, primarily in the colon[5].  There has been a 90% increase in cases of childhood Crohn’s or Colitis between 2002 and 2012. 

The Study of Genomics

Genomics is the study of all of a person’s genes (the genome), including the interactions of those genes with each other and the person’s environment. Genomics has a critical role to play in the identification, prevention and treatment of disease and rare conditions, including the scientific study of complex diseases such as heart disease, asthma, diabetes, and cancer because these diseases are typically caused more by a combination of genetic and environmental factors than by individual genes. 

About Genomics Medicine Ireland

Founded in 2015, Genomics Medicine Ireland (GMI) is an Irish life sciences company leading large-scale, population-based genome research studies on the island of Ireland examining the relationship between genetics, health and disease. It is building a preeminent disease-specific database of population genomics. GMI works in collaboration with clinicians, patients, academic researchers and global biotech and pharmaceutical sectors to discover pathways to new treatments and new diagnostics for people both here in Ireland and around the world.

Earlier this year, GMI announced a 15 year partnership with AbbVie (NYSE: ABBV), a global biopharmaceutical company) aimed at advancing the discovery and development of novel therapeutic approaches to a range of serious diseases.

GMI is currently undertaking the GenoFit study in collaboration with UCD Institute for Sport and Health to research the role of genetics in fitness and health; genomic research in Rare Diseases in collaboration with Temple Street Hospital and  expects to launch its fourth major study in the coming weeks.

About UCD Clinical Research Centre

Opened in 2006, the UCD Clinical Research Centre is an academic-led, multi-site, patient-focused facility for clinical and translational research integrated under a single governance structure within the UCD School of Medicine.  The UCD CRC has a range of facilities and in-house expertise to support the delivery of high quality clinical research to its collaborators and partners. These supports cover all aspects of the clinical research project lifecycle, from as protocol development and approval, study design and management, through active recruitment and sample collection, to sample and data analysis.

[1] Irish Society for Colitis and Crohn’s Disease, (http://www.iscc.ie/#!about/c126y)

[2] O’Toole et al, 2014

[3] Hugot et al, 1996.

[4] Kaplan Gilaad G, 2015:  Global Burden of IBD: From 2015 - 2025

[5] Gut Decisions: Leading Change to improve the lives of people living with IBD. (May 2015). http://www.colorectal.ie/IBDQualityReport.pdf