The Genetics Of Inflammatory ... Video Transcript

Participants

, Judy Cho MD, Lisa Gurevitz , Bob Jacobs , Mary Lou Jacobs , David Rubin MD

Summary

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.

Webcast Transcript

ANNOUNCER: Every eight weeks, Lisa Gurevitz makes a long trip to the University of Chicago Hospitals for an infusion of the medicine Remicade.

LISA GUREVITZ: I have Crohn's disease. My father has ulcerative colitis. My mom was just diagnosed with Crohn's disease. I had a brother who had Crohn's disease. Most of the females on my mom's side of the family at point or another had some type of inflammatory bowel disorder.

DR. DAVID RUBIN: Well, what we currently understand is that the strongest risk factor for an individual to have inflammatory bowel disease is either to be the child of two parents with inflammatory bowel disease. And then, secondly, to be a sibling of somebody who has inflammatory bowel disease.

ANNOUNCER: Lisa's father, Robert Jacobs, had his first flare-up of ulcerative colitis as a young man.

BOB JACOBS: My first bout, Lisa was just born. It was in 1971. I was very sick for about two years.

ANNOUNCER: Bob then went symptom free until the year 2000. When the colitis flared again, it was severe.

BOB JACOBS: It was bad enough that I had to have surgery. I got sick in January of 2000 to the degree that I was unable to work. I was home for eight months.

ANNOUNCER: The latest diagnosis of Inflammatory Bowel Disease in the family came as one of those surprises in life that, in hindsight, should not have been.

MARY LOU JACOBS: I actually was diagnosed with Crohn's disease just recently. I've had for many years some sort of stomach problems, stomach pain, diarrhea on and off, an ulcer.

ANNOUNCER: Mary Lou Jacobs, like Bob, now, too, is doing well. In her case, medication is keeping her disease under control. The real IBD tragedy in the family was what happened to the Jacobs' son, Brian. His story starts with a doctor who, the Jacobs say, was quick to dismiss a diagnosis of Crohn's disease.

MARY LOU JACOBS: Brian was 18. And he was anemic and had had diarrhea for quite a while. And the pediatrician kept saying, "He's anorexic." It was his first year of college. He's not adjusting. And I kept saying, "No, you've got the wrong person."

The first thing I said, "Do you think he has Crohn's disease?"

He said, "Oh, no, absolutely not."

ANNOUNCER: Over the next few years, Brian's symptoms got worse. In the Summer of 1992, when Brian was 24, he underwent surgery.

BOB JACOBS: Things just went downhill from the sixth day post-op. He was taking massive doses of immunosuppressive drugs. They compromised his immune system. And he literally came apart surgically at the site of the anastomosis. Peritonitis set in and then it was all downhill from that point. He never left the hospital. He died on December 12th.

ANNOUNCER: Families like the Jacobs's provided evidence of a genetic link in IBD from the time Crohn's disease was first identified.

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.