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New genetic discovery sheds light on ulcerative colitis

January 5, 2009 – In a study published by Nature Genetics on January 4, 2009, an international team of geneticists and gastroenterologists led by Mount Sinai Hospital’s Dr. Mark Silverberg have discovered a new genetic link to ulcerative colitis, an inflammatory bowel disease that affects approximately 200,000 Canadians.

“This research found two new genetically predisposing factors for colitis which gives us a better understanding of why people get the disease, and will eventually lead to improved therapies and potentially prevent it altogether,” said Dr. Silverberg, one of the lead authors of the paper. Dr. Silverberg is also an associate member of the Samuel Lunenfeld Research Institute of Mount Sinai Hospital and the Gale and Graham Wright Research Chair in Digestive Diseases. “There is no known cause for ulcerative colitis and Canadians have one of the highest rates of incidence of this disease,” he says.

Ulcerative colitis is a life-long disease that usually begins in young adulthood and affects the inner layer of the colon, or large bowel. The disease can cause sudden life-threatening complications, but is usually controlled by drug therapy or surgery.

The research employed a genome-wide study that analyzed the DNA of more than 1,000 patients and over 2,000 control samples using simple blood tests. The team’s findings showed significant evidence of susceptibility in two novel regions located adjacent to genes encoding the proteins phospholipase A2 and interferon gamma. These proteins play roles in inflammatory responses and immune system regulation.

“This is a superb example of the promise of individualized medicine,” said Dr. Jim Woodgett, Director of Research at the Samuel Lunenfeld Research Institute. “As a clinician-scientist, Dr. Silverberg has pinpointed new gene variations that predispose to this debilitating disease that will allow more precise tailoring of the most effective therapy to particular patients.”

The research was conducted by the NIDDK IBD Genetics Consortium and was funded by the National Institutes of Health(NIH)/National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the Crohn’s and Colitis Foundation of Canada (CCFC).

About the Samuel Lunenfeld Research Institute of Mount Sinai Hospital

The Samuel Lunenfeld Research Institute of Mount Sinai Hospital, a University of Toronto affiliated research centre established in 1985, is one of the world’s premier centres in biomedical research. Thirty-four principal investigators lead research in diabetes, cancer biology, epidemiology, stem cell research, women’s and infants’ health, neurobiology and systems biology. For more information on the Samuel Lunenfeld Research Institute, please visit

About the CCFC

The CCFC invests over 80% of its net fundraising proceeds in research and education and is Canada’s top funder of cure-directed research for inflammatory bowel disease. To date, CCFC has invested nearly $56 million in IBD research and is one of the world’s leading sources of non-governmental funding of such research. To learn more about the CCFC and how you can contribute, please visit

For more information please contact:

Nikki Luscombe 
Communications Specialist         
Samuel Lunenfeld Research Institute          
Mount Sinai Hospital                  
416 586-4800 x 2046