National Institutes of Health, Bethesda, MD USA
Raphaela Goldbach-Mansky is the Chief of the Translational Autoinflammatory Diseases Section (TADS) in the Laboratory of Clinical Immunology and Microbiology (LCIM) at NIAID at the NIH. Dr. Goldbach-Mansky’s translational research program focuses on clinical and translational studies in children with early-onset autoinflammatory diseases. Her research applies an integrative approach to characterize the genetic and molecular causes of autoinflammatory diseases and to design targeted treatment studies to investigate the role of specific inflammatory pathways in the pathogenesis of autoinflammatory diseases with the ultimate goal to improve disease outcomes. Her studies in patients with NOMID and DIRA established targeted treatments with IL-1 inhibitors as standard of care and led to FDA approval of anakinra for NOMID in 2012. Her recent translational and interventional studies in CANDLE and SAVI focus on understanding the pathogenic role for Type I Interferons in the disease pathogenesis and the role of IL-18 in autoinflammatory diseases that present with macrophage activation syndrome.