Dr. Goldbach-Mansky is Chief of the Translational Autoinflammatory Disease Studies (TADS) at the National Institute of Allergy and Infectious Diseases (NIAID) at the NIH, and the goal of her research is the discovery and characterization of genetic and cytokine-driven pathogenic pathways that cause autoinflammatory disorders in children and young adults. Through understanding of disease pathogenesis, her group identifies molecular targets and develops therapeutic proof of concept phase I/phase II studies with the goal to find therapies that lead to better disease outcomes. Dr. Goldbach-Mansky is a pioneer in the field of autoinflammatory diseases. She has identified the genetic basis and immunopathogenesis of a variety of novel diseases including NOMID, DIRA, CANDLE, and recently SAVI. Her studies in NOMID and DIRA established targeted treatment with IL-1 inhibitors as standard therapy, and her studies in NOMID led to FDA approval of anakinra for NOMID. Recent studies of IL-1–unresponsive patients led to the description of a group of patients with dysregualted interferon signatures that including CANDLE and SAVI. Her recent work on treating CANDLE and SAVI patients with Janus kinase inhibitors that target IFN signaling aims to establish a role for IFN dysregulation in causing autoinflammatory phenotypes.
Raphaela Theresia Goldbach-Mansky, MD, MHS