Research in my laboratory is aimed at defining the genetic and immunologic basis of human inflammatory neurologic and rheumatic diseases, and to translate those findings into new treatments for affected individuals. Our laboratory offers expertise in murine and human genetics, autoinflammatory bone disorders, innate immunity and neuroinflammatory disorders. We have identified 5 genes that cause syndromic forms of chronic multifocal sterile osteomyelitis including LPIN2, PSTPIP2, IL1RN, FBLIM1 and FGR and have translated this work into successful treatment of these disorders in the clinic by using IL-1 blocking agents. This work has significantly advanced the field. We have identified Mendelian causes of uveitis and identifying targetable inflammatory pathways that lead to brain and ocular damage after traumatic brain injury.  

We utilize genomic, proteomic and animal models to achieve our aims. We use a team approach to science involving individuals from multiple fields including pediatrics, rheumatology, immunology, neurology, ophthalmology, genetics, among others. We start with questions (developed at the bedside) to answer a clinical need or hole in our understanding of the pathogenesis of human disease, then genomic, proteomic, animal models (including humans) to achieve our aims. We have been successful because of the highly collaborative, multi-disciplinary approach used to answer each scientific question.