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A GEM of a Study

In scope and ambition, the Michael J. Howorth Genetics, Environmental and Microbial (GEM) project is unique. It is the first large-scale prospective cohort study in the world designed to try to identify the cause of Crohn’s disease by studying individuals who are at risk of developing the disease, but who are healthy.  

Mount Sinai’s Dr. Ken Croitoru is
GEM National Project Director

More Information
Read the FAQs about Inflammatory Bowel Diseases.
“The genetics alone don’t explain it,” says Dr. Ken Croitoru, a researcher in the Zane Cohen Centre for Digestive Diseases at Mount Sinai Hospital, and GEM’s National Project Director. “Since the late 1980s, over 30 genes have been identified as being associated with Inflammatory Bowel Diseases (IBD) and Crohn’s disease, but we’re still scratching our heads as to what they mean. There are a lot of questions that the genetic research has not been able to answer.”

Many Canadians are anxiously hoping for more insights. According to Statistics Canada, in 2008, more than 200,000 Canadians were living with Crohn’s disease and ulcerative colitis (the main forms of IBD). Crohn’s disease can affect any part of the gastrointestinal tract, from the mouth to the anus; medication and surgery can provide relief, but not a cure.

In addition, says Dr. George Tolomiczenko, Executive Director of Research & Scientific Liaison, Crohn’s and Colitis Foundation of Canada (CCFC), Crohn’s is hard to diagnose. “Many people think of their symptoms as inconvenient at first, so there can be delay in diagnosis. And a physician might start treating symptoms and prescribe medications and diet approaches long before the diagnosis is even considered. This makes it difficult to study patients at the first onset of disease, let alone before disease starts, to try to find the triggers.”

Inspired by Famous Heart Study
IBD clinicians and researchers across Canada determined they needed to cast a much wider net in their quest for answers. They took the bold step of using the Framingham Heart Study as their model. Launched in 1948, this project involved studying thousands of volunteers in the town of Framingham, Massachusetts, in an effort to determine risk factors for cardiovascular disease. Over the years, careful study identified the factors we’ve all become familiar with: smoking, obesity, high blood pressure, etc.

Despite its success, the costly Framingham approach has not been applied to IBD — until GEM. “We are only able to do this because Canadians working in IBD collaborate so effectively,” says Dr. Croitoru. “We all agreed that this is high risk, but it’s the only way we can get to the answer. Everyone talks about this approach, but no one has actually managed to get it off the ground before now.”

“GEM is the single most significant investment in one research project the Foundation has made,” says Dr. Tolomizcenko. The CCFC funded the $5.5-million study. “This is the broadest way to systematically look for the triggers of the disease.”

GEM’s initial five-year goals are to enroll 5,000 participants – children and siblings of people with Crohn’s Disease, aged between six and 35. Each participant supplies blood, urine and stool samples and answers an in-depth questionnaire about past environmental exposures, eating habits and medical history. They must also be available for telephone updates every six months.

“It’s really laidback,” says Jordan Duarte about GEM. The third year Broadcasting student at Hamilton’s Mohawk College decided to participate because his younger sister has Crohn’s. “My sister’s very happy I’m doing this. I’d definitely encourage others to get involved. It’s quite painless, and you’re helping somebody out. You’re helping towards research for the future.”

“We have recruitment centers from Victoria to Newfoundland identifying subjects, collecting their samples and shipping them to Toronto,” says Dr. Croitoru. “Although GEM is a Mount Sinai-based project, it’s also very much a collaborative, national study.”

GEM Shines Now and in the Future
With a nod to Framingham, which continues to reveal important health information more than 60 years after it began, Dr. Croitoru believes that GEM will answer important questions about IBD and will generate new research for many years to come.

“As we develop new insights, new technologies, new understanding, we can go back to this cohort and ask the questions that we can’t by simply studying people who already have the disease,” says Dr. Croitoru.

“GEM has become a showcase for IBD research,” he adds. “We are managing probably one of the best clinical studies to address the key question in this disease, and bringing basic science, and clinical research expertise, not only here but across Canada, to work on trying to get to that answer.”

Jordan Duarte, for one, will be grateful. “I hope that they find a cure for my sister and for others who suffer from Crohn’s and colitis,” he says. “It’s horrible to see somebody you care about when they’re really sick.”


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