Raphaela Goldbach-Mansky, M.D.
Medical Genetics Branch
M.D. Universitšt Witten-Herdecke, Germany, 1990
M.H.S. Duke University, 2005
10 Center Dr, MSC 1560
Bethesda, MD 20892-1560
Dr. Goldbach-Mansky's research applies a systematic approach to clinical and immunological descriptions of of autoinflammatory diseases, including a recently identified group of systemic immune dysregulatory disorders with distinct abnormalities in the innate immune system.
Her research group uses targeted interventions to understand the role of specific inflammatory pathways in the pathogenesis of autoinflammatory diseases with perinatal onset. The discovery of single gene mutations, which modify the regulation of inflammatory pathways triggered by exogenous and endogenous danger-signaling molecules in a number of autoinflammatory diseases, have provided new targets to treat - and new concepts to understand - this disease group.
Studies in patients with Mendelian monogenic disorders in the IL-1 pathway, such as neonatal-onset multisystem inflammatory disease (NOMID) and deficiency of the IL-1 receptor antagonist (DIRA), have demonstrated the pivotal role of IL-1 in often devastating inflammatory multi-organ disease manifestations. These symptoms include CNS, sensory organ and systemic inflammation. The overlap of clinical symptoms has led to the investigation of the role of IL-1 in other autoinflammatory diseases, including BehÁet's disease and chronic recurrent multifocal osteomyelitis (CRMO). The recent genetic and clinical description of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) points to inflammatory pathways causing systemic fever syndromes that are not IL-1 mediated.
Dr. Goldbach-Mansky conducts clinical phenotyping, genetic analyses and characterization of the immunophenotype to explore disease pathogenesis and to find lead to better treatment approaches.
Dr. Goldbach-Mansky's research group works in partnership with NHGRI's Inflammatory Disease Section to characterize genetic mutations in patients with these diseases. The group collaborates within and outside NIH to characterize the pathogenesis of inflammatory manifestations.
Last Reviewed: August 19, 2013