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The Genetics Of Inflammatory Bowel Disease

Summary & Participants

Inflammatory bowel disease can run in families, so scientists have known for a long time genes are at least partially to blame. Listen to the story of one family's experience with Crohn's disease. And learn from Dr. Judy Cho about her breakthrough discovery of the first gene linked to IBD.

Medically Reviewed On: May 07, 2008

Webcast Transcript

DAVID RUBIN, MD: When the disease called Crohn's disease was first described by Burrill Crohn and Oppenheimer and others in 1932, they were already seeing that some families had more than one person in the family with a similar set of symptoms and problems.

ANNOUNCER: Evidence for a genetic link in IBD comes also from two other observations. Prevalence varies according to ethnic background. And risk increases when an identical twin has disease.

Judy Cho, a research scientist at the University of Chicago, led a team that made a milestone discovery in the hunt for a genetic link to IBD.

In the summer of 2000, the team found that many patients with Crohn's disease have mutations in a gene called NOD-2.

DR. JUDY CHO: And so if you have one copy of those risk alleles or mutations, it increases your risk of developing Crohn's disease, about two to four fold over the general population. If you carry two copies of the NOD-2 mutations, your chance of developing Crohn's disease increases 20-40 fold.

ANNOUNCER: In the Jacobs family, the first diagnosis of IBD among the two children came when Lisa was ten.

MARY LOU JACOBS: Lisa never let anything stand in her way when she wanted to do something and ice skating was her #1 thing.

LISA GUREVITZ: I was very sick. I think I was in and out of the hospital a few times that spring, and I had my solo for the first time in the ice show, and I was in five or six numbers, and I had a lot of quick changes with costumes, so right during my solo I was skating, and I tripped and I basically fell in front of, you know, at that time it was everybody in the world that I knew.

MARY LOU JACOBS: Just kind of felt flat on her face, got up, finished it, and we had her in the hospital the next day.

LISA GUREVITZ: If I wasn't as sick as I was, I probably would have been able to concentrate more.

MARYLOU JACOBS: For a while we were holding her together with chicken soup to get her through that because she absolutely would not go into the hospital before the ice show.

ANNOUNCER: Judy Cho's research helps explain just what may go wrong in the intestines of Crohn's patients like Lisa.

JUDY CHO, MD: What is unique about the intestine over any other organ or tissue system in the body is that it's exposed to very high concentrations of bacteria within the intestinal lumen. That constant interplay-how to balance the right about of inflammation, the exposure to these high concentrations of bacteria, how to limit that inflammation-is what we think is the key to understanding Crohn's disease and ulcerative colitis.

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