Crohn's and Colitis Foundation of Canada (CCFC)

Crohn's and Colitis Foundation of Canada (CCFC)

October 26, 2006 14:00 ET

Study Reports Discovery of New Genetic Link to Crohn's Disease

TORONTO, ONTARIO--(CCNMatthews - Oct. 26, 2006) - A group of North American researchers from leading digestive disease institutes, including the University of Toronto, have released the findings of a large-scale study indicating a new genetic link to Crohn's disease, which is considered a positive breakthrough in finding a cure for the disease. Crohn's disease is a chronic and painful disorder associated with Inflammatory Bowel Disease (IBD), which affects more than 170,000 Canadians.

"This breakthrough offers sufferers of IBD, including myself, a new hope for better therapy to combat and perhaps cure this disease," says Randy Sabourin, National President of the Crohn's and Colitis Foundation of Canada (CCFC). "At the CCFC our mission is to "Find the Cure" for Crohn's disease and ulcerative colitis. Research is extremely important to us and the findings of the study are a true testament to what is achievable through the ongoing support of our donors and volunteers."

The Crohn's and Colitis Foundation of Canada has spent more than 30 years supporting research projects and promoting education of IBD to help find a cure for the disease. CCFC is the single largest sponsor of IBD research in Canada and to date, has invested more than $40 million in major research projects, the CCFC IBD Network and the training of research personnel.

As part of the study, published online in the journal SCIENCE, researchers were able to evaluate the human genome, comprised of around 30,000 genes, of more than 1000 individuals suffering from Crohn's disease to identify genetic mutations associated with the development of IBD. In past studies, a link between the disease and mutations in the CARD15 gene were confirmed, but they did not account for all genetic components of the disorder.

Specifically, more than 300,000 single nucleotide polymorphisms (SNPs) were tested. SNPs are genetic mutations in DNA that do not necessarily have an affect on cell function but, in some cases, are believed to predispose organisms to disease and alter response to certain drugs.

After scanning the genome, it was discovered that three SNPs were strongly related to Crohn's disease; two were found in the CARD15 gene, but another was in a previously unexplored gene. This gene was comprised of a protein that is part of an immune cell receptor, interleukin-23 (IL-23), an important inflammatory mediator in the human body.

"When scanning the genome, a number of SNPs in the IL-23 receptor gene were found to be strongly associated with Crohn's disease, a discovery that took us all quite by surprise," says Dr. Mark Silverberg, a University of Toronto researcher based at Mount Sinai Hospital, who was involved in the study. "Because IL-23 plays a role in activating the inflammatory response in the body, including the digestive tract, blocking this gene's activity, or manipulating its pathway, is a positive breakthrough for improving the management of Crohn's disease and IBD."

The CCFC has been, and continues to be, instrumental in funding Dr. Silverberg's research program on the genetic factors leading to IBD. This research is principally conducted at Mount Sinai Hospital in collaboration with investigators at The Hospital for Sick Children in Toronto and others around the world.

Currently, there is no known cause or cure for IBD and recent studies have shown that Canada has the highest incidence rate of Crohn's disease in the world and the incidence and prevalence of ulcerative colitis are also among the highest.

To learn about ways that you can help find a cure for IBD, or educate yourself about the disease, please visit

About CCFC

The Crohn's and Colitis Foundation of Canada (CCFC) is a voluntary, not-for-profit, medical research foundation dedicated to finding the cure for Crohn's disease and ulcerative colitis. The Foundation is also committed to educating IBD patients, their families, health professionals and the general public about the diseases. For more information about the CCFC, please visit

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