CHOP Researchers Discover Genetic Variants Linked to Very Early Onset IBD in Children

CHOP Researchers Discover Genetic Variants Linked to Very Early Onset IBD in Children
A study led by researchers at the Children's Hospital of Philadelphia (CHOP) revealed specific genetic variants carried by children with very early onset of inflammatory bowel disease (IBD). The study is entitled “Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease” and was published in the journal Gastroenterology. IBD is a chronic inflammatory condition of the gastrointestinal tract that primarily comprises ulcerative colitis and Crohn’s disease. It is characterized by vomiting, abdominal pain, rectal bleeding, diarrhea, internal cramps in the pelvis region, fatigue and weight loss. It is estimated that IBD affects approximately two million children and adults in the United States. Very early onset cases of IBD (in children aged 5 years or younger) are usually characterized by a more severe phenotype than IBD cases at an older age onset. In the study, researchers assessed whether very early onset IBD patients had rare or new variants in genes known to be associated with primary immunodeficiency disorders and related pathways, which could, therefore, contribute to disease development. “There has been extensive research in the genes contributing to adult-onset IBD and in children aged 10 and older,” noted the study’s lead author and pediatric gastroenterologist at CHOP, Dr. Judith R. Kelsen in a
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