Translational Autoinflammatory Disease Section research focus is on applying a systematic approach to the clinical and immunological description of a number of autoinflammatory diseases. The lab uses targeted interventions to understand the role of specific inflammatory pathways in the pathogenesis of the autoinflammatory diseases. The discovery of single gene mutations, which modify the regulation of inflammatory pathways triggered by exogenous and endogenous "danger" molecules in a number of autoinflammatory diseases has provided new targets to treat and new concepts to understand this disease group. The studies on patients with neonatal-onset multisystem inflammatory disease, NOMID, have demonstrated the pivotal role of IL-1 beta oversecretion on the often devastating inflammatory multiorgan manifestations which include CNS and sensory organ inflammation (i.e. aseptic meningitis, cochlear inflammation and eye inflammation), rash, systemic inflammation with fevers and joint involvement. The overlap of clinical symptoms has led to the investigation of the role of IL-1 in other autoinflammatory/ autoimmune diseases.
Translational Autoinflammatory Disease Section works in partnership with Dr. Dan Kastner the Adjunct Investigator of NIAMS, and his laboratory group. This collaboration has led to the discovery and characterization of genes underlying a number of other autoinflammatory/autoimmune conditions. For additional information, please visit http://niams.nih.gov/Research/Ongoing_Research/Branch_Lab/Pediatric_Translational_Research/tads.asp.