Janet Markle (Molecular Microbiology and Immunology, Bloomberg School of Public Health)

Anthony Guerrerio (Pediatrics, School of Medicine)

This project aims to uncover genetic and immunological drivers of disease pathogenesis in children with very early onset inflammatory bowel disease (VEOIBD). The project combines data-intensive genome-wide sequencing capabilities and cellular immunology expertise with unique patient access. VEOIBD is a rare and devastating disease which may result from single-gene inborn errors of immunity, however most children with this disease currently lack a genetic diagnosis. We propose the in-depth analysis of whole exome sequencing data to identify novel candidate mutations, followed by functional testing of these candidates at the molecular and cellular levels. Through this effort we hope to provide a more complete understanding of VEOIBD pathogenesis on a patient-by-patient level, which will permit tailored therapies in the future.