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Welcome to Discovery to Innovation

Discovery to Innovation is a quarterly update of news, research findings, and game-changing developments at
The Childrenʼs Hospital of Philadelphia Research Institute.

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Pediatric investigators analyzing DNA variations in type 1 diabetes and inflammatory bowel disease (IBD) have found some genes have opposing effects, raising the risk of type 1 diabetes while lowering the risk of Crohn's disease, a subtype of IBD. In other cases, a variant raises the risk of both diseases. Hakon Hakonarson, MD, PhD, and collaborators from more than a dozen institutions in four countries, published these results in the journal Human Molecular Genetics.

The genome-wide association study identified multiple gene variants not previously reported for these diseases and evaluated genes previously discovered to be associated with type 1 diabetes, Crohn's disease, or ulcerative colitis, another subtype of IBD. Autoimmune disorders such as type 1 diabetes and IBD often share genes that act on the same biological pathways, but the finding that genes influence diseases in more than one direction shows the genetic architecture of these diseases is more complex than was originally thought.

Dr. Hakonarson, director of the Center for Applied Genomics at CHOP Research, suggests that the opposing genetic effects could be a "genetic switch" on biological pathways involved in both type 1 diabetes and IBD, but cautions that this hypothesis requires further investigation.

Funding for this study came from an Institute Development Award from Children's Hospital, Genome Canada through the Ontario Genomics Institute and the Juvenile Diabetes Research Foundation, the Primary Children's Medical Center Foundation; and the National Center for Research Resources of the National Institutes of Health.

Read the full release.
Read the study's PubMed abstract.

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