Principle Investigator: Halima Moncrieffe, PhD
Juvenile idiopathic arthritis (JIA) affects an estimated 300,000 children under the age of 16 in the United States and results in swollen joints, functional impairment, and risk of joint replacement and disability. JIA has a strong genetic component to disease with many areas in the genome each making a small and distinct contribution to JIA development.
Most of the genomic regions associated with JIA do not encode protein but instead are likely to control gene expression. This is a major challenge in understanding how JIA risk loci cause disease. Specialized proteins called transcription factors (TFs) have a key role in repressing or activating gene expression.
Our bioinformatic studies on over 1,500 ChIP-seq experiments have identified individual TFs that bind up to half of the known JIA genetic risk loci. The goal of our research is to better understand if these “high-intersecting” TFs have altered binding to JIA risk loci, as well as to elucidate the functional consequence of altered TF binding on gene expression. By understanding shared mechanisms of genetic risk in JIA, our long-term goal is to identify novel therapeutic targets and better treat disease symptoms.