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Genomic study of bowel disorders named a Top 10 Clinical Research Achievement for 2012

April 18, 2013

An international genomic study of inflammatory bowel disorder (IBD) led by Judy H. Cho, M.D., the Henry J. and Joan W. Binder Professor of Gastroenterology and professor of genetics, has received a Top 10 Clinical Research Achievement Award from the Clinical Research Forum, a Washington, D.C.-based organization that provides leadership to the national clinical and translational research enterprise and promotes understanding and support for clinical research and its impact on health.

"There's never been a moment in the history of biology that's more optimistic for spectacular breakthroughs to happen. However, it will require strategic investments at a most difficult time in our history," said William F. Crowley Jr., M.D., founder and past chairman of the Clinical Research Forum and director of the Clinical Research Program at Massachusetts General Hospital. "America is a world leader in biomedical research and if we are to retain that leadership role globally, we have to continue making these national investments."

The study led by Cho was one of the largest of its kind ever conducted, and was published in the journal Nature in 2012. Nearly 100 scientists in 15 countries contributed to the research, which threw new light on the genetic basis of IBD, a group of chronic autoimmune digestive disorders affecting 2.5 million people worldwide. To complete the study, members of the International IBD Genetics Consortium collected 41,000 DNA samples from Crohn's disease (CD) or ulcerative colitis (UC) patients and healthy comparison subjects at 11 centers around the world.

In addition to confirming that 92 regions identified in previous studies confer a significant risk of CD, UC, or both, the study linked 71 additional stretches of the genome to IBD. The IBD-linked variants largely fall in genomic regions that regulate the expression of immune-system genes implicated in other autoimmune diseases, particularly the skin disease psoriasis and a joint disorder known as ankylosing spondylitis. Genes affected by these regulatory regions are also involved in the production of immune cells that fight infection by mycobacteria, a family of microbes that cause diseases such as leprosy and tuberculosis.

Other awardees hail from the Massachusetts General Hospital at Harvard Medical School, Columbia University, Johns Hopkins University School of Medicine, the University of North Carolina at Chapel Hill, the University of Pennsylvania, and the University of Pittsburgh Medical Center.

"These achievements are beacons of hope that show what can be accomplished when our nation's researchers are given the freedom and resources to tackle tough clinical problems," said NIH Director Francis S. Collins, M.D., Ph.D. "The opportunities for advancing clinical research have never been better. So, we at NIH look forward to doing everything we can to light up more of these beacons for the millions who look to us for help."

Winning researchers are being honored April 18 during the Clinical Research Forum's annual meeting in Washington, D.C., where they also will present their work.

Submitted by Peter Farley on April 18, 2013