BULK RNA-SEQUENCING OF BLOOD INFORMS MOLECULAR DIAGNOSES IN VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE

Abstract

Very early onset inflammatory bowel disease (VEOIBD) is defined as disease onset prior to age 6. VEOIBD is monogenic in >5% of cases; however, in the remaining cases, molecular basis of disease is unknown. We aimed to utilize bulk RNA-seq of blood to 1) define transcriptional signatures in established monogenic IBD and 2) to inform novel molecular diagnoses.