Exome Sequencing in Children with Crohn Disease

There is no cure for Crohn disease (CD), a chronic inflammatory disease of the intestinal tract characterized by abdominal pain, diarrhea, growth disturbances in children, and an impaired quality of life. Approximately 5,000 Utah residents have CD, including 700 children. It is believed that the disease stems from an inappropriate immune response to intestinal bacteria within genetically susceptible individuals. Identification of genetic variations that predispose individuals to CD can elucidate its cause and potentially lead to novel treatments, or even a cure.

Using extensive genealogical records contained in the Utah Population Database, Stephen Guthery, MD, and his team have identified two families that are at high risk for developing CD. The group is now sequencing ten of these family members to identify candidate genetic variations that contribute to the disease. The results will be verified in a number of ways, including comparing against a genetic database of over 6,000 CD cases from across the world to determining whether the candidate variants are distributed more broadly among those with CD.

A second aim of this study is to pilot novel methods for analyzing genetic variations. Using VAAST, a state-of-the-art data analysis tool developed at the University of Utah, the team will follow up on previous studies suggesting that genetic variations found in CD patients cluster within a small group of genes. Such a finding will hasten identification of disease-causing genes, and new therapies.

crohn disease

Crohn Disease. Crohn Disease is an immune-mediated disease that can affect any part of the gastrointestinal tract from mouth to anus. In the intestine, the most common types are ileal, ileocoloic, and colonic. Symptoms can be debilitating and include abdominal pain, diarrhea, vomiting, and severe weight loss.