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The genomic basis of
Inflammatory Bowel Disease

We do not know exactly what causes Inflammatory Bowel Disease (IBD), a term which describes Crohn’s disease and Ulcerative Colitis, but scientists believe that a combination of factors including genetics, an abnormal reaction of the immune system, viruses, bacteria and other environmental factors may be at play.

Genuity Science is working to bridge the knowledge gap

Researchers are still trying to understand why some people get severe IBD while others develop only mild symptoms. At diagnosis, it is difficult for doctors to predict how a patient’s disease will progress over time, or if it will progress at all. At Genuity Science, we are studying how our genes can influence our risk of developing IBD in our lifetime, how our genes impact how the disease progresses over time and how our genes may alter how we react to certain IBD medications. We are also examining how our environment and our lifestyles may affect how the disease develops and progresses. By gaining a better understanding of the role genetics plays in IBD, Genuity’s research will help pave the way for the development of better diagnostic tools, and more effective, targeted treatments for IBD.

Aims of the Genuity Science Inflammatory Bowel Disease study

  • To understand why some people develop IBD and other’s do not.
  • To identify new genes which may cause Crohn’s Disease and Ulcerative Colitis to develop.
  • To explore why some people develop severe forms of IBD while others have mild symptoms.
  • To examine how environmental and lifestyle factors may influence someone’s risk of developing IBD and predict how their disease progresses over time.
  • In partnership with our collaborators, identify new and more effective treatments for those with IBD.

Genomic Medicine for Precision Health

A genetic biomarker is described as a known DNA sequence that causes disease or is associated with susceptibility to disease. Using genetic biomarkers to predict the severity of IBD for a person as well as how that person is likely to respond to treatment would tremendously improve our ability to manage the disease for that patient. Precision health is about prescribing an individual patient with the right drug, at the right dose, at the right time. This would allow for earlier intervention and the increased potential to slow progression.

Current IBD Treatments

The aim in treating IBD is to reduce inflammation in the gut, improve and resolve symptoms, induce and maintain remission and ensure a better quality of life. Once these symptoms are under control and you are in ‘remission’, doctors may prescribe medications which help will keep you in ‘remission’ and prevent you having a ‘relapse’ or ‘flare’ where symptoms may occur again. In order to reduce active inflammation, doctors may prescribe steroids to quickly treat inflammation in the gut. Steroids can be given in a tablet, intravenously (in a drip) or topically (as a cream or foam suppository). Other anti-inflammatory drugs include amino salicylates which are also called 5-ASA’s. 5-ASA’s are commonly prescribed to treat mild to moderate ulcerative colitis and they can be prescribed for long term use to prevent relapses.

Immunosuppressants (eg. Azathioprine and mercaptopurine (6-MP)) and biologic therapies (eg. Infliximab, Adalimumab, Golimumab, Ustekinumab, Vedolizumab) are often prescribed to reduce the activity of the immune system and maintain remission in the long term. These drugs have proven to be very effective in treating IBD long term. However, there are many side effects associated with these drugs, many require intensive monitoring for the patient, and some may lose response to the drugs over time. In some cases, surgery may be required where medication alone is not effective. Genuity Science is examining how our genetics may influence how our body reacts to these drugs and how our genes may predict how IBD disease may development over time.

IBD and Classification

Inflammatory Bowel Disease (IBD) is a term used to describe two chronic gastrointestinal disorders; Crohn’s Disease and Ulcerative Colitis. Crohn’s Disease can cause small or large patches of inflammation in any part of the digestive tract from the mouth to the anus. Inflammation in Crohn’s Disease can occur deep in the intestinal layers causing abscesses and fistulas.

Ulcerative Colitis causes inflammation and ulceration in the large intestine and rectum only and tends to affect the mucosa (top layer) of the intestines. As a chronic condition, people with Crohn’s Disease and Ulcerative Colitis can have times when their disease is quiet and controlled (remission) or times when their disease is more active and debilitating (relapses or flares).

Genuity Science’s IBD Research Study

The Genuity Science IBD study is a population-based study, which means the data is grouped with thousands of other participants with IBD so that researchers can identify patterns that may help answer some important questions about the disease. This exploration of genetic and environmental risk factors, as well as the biological processes associated with IBD will contribute to a better overall understanding of IBD, paving the way for the development of new treatments and earlier intervention therapies for IBD patients.

Over 4000

people with IBD have taken part in this study

Read our study updates

Participant Story

"When I was approached to take part in the Genuity Science study I didn’t hesitate."

Terri Branigan
IBD Research Study Participant
Read More

Follow the Participant's Journey

Eligible volunteers at research study sites consent to participate in the research
A blood sample is collected from the research participants along with lifestyle and medical history

The sample is delivered to our genomics centre

DNA is extracted from the blood sample using a robotic system
The DNA sample then undergoes a rigorous quality control process
The DNA is genotyped on a chip to study a variety of important questions related to health, disease risk and drug response

The sample is whole genome sequenced, providing a letter-by-letter read of all 3.2 billion letters in an individual’s genome

Our scientists analyse the sequenced data of thousands of individuals in parallel to identify patterns and variations in the genome which may cause or contribute to certain medical conditions

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