Skip to main content
 

Raphaela Goldbach-Mansky, M.D., M.H.S.

Investigator
Translational Autoinflammatory Disease Section
NIAMS
Building 10, Room 6D-47B
10 Center Drive
Bethesda, MD 20814
301-435-6243

Research Topics

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.

Biography

Dr. Raphaela Goldbach-Mansky received her medical degree from the University Witten-Herdecke, Germany, in 1990 and completed a combined residency in Internal Medicine and Pediatrics at Case Western University, Metro Health Medical Center. She completed her rheumatology fellowship training at NIAMS in 1999 and served as a Staff Clinician at NIAMS through 2008. She is currently a Tenure-Track Investigator in the NIAMS Intramural Research Program.  Dr. Goldbach-Mansky’s research focus is on applying a systematic approach to the clinical and immunological description of a number of autoinflammatory diseases. Her 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. Her studies in 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. Dr. Goldbach-Mansky’s group 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 autoinlfammatory/ autoimmune conditions.

Selected Publications

  1. Sibley CH, Plass N, Snow J, Wiggs EA, Brewer CC, King KA, Zalewski C, Kim HJ, Bishop R, Hill S, Paul SM, Kicker P, Phillips Z, Dolan JG, Widemann B, Jayaprakash N, Pucino F, Stone DL, Chapelle D, Snyder C, Butman JA, Wesley R, Goldbach-Mansky R. Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: A cohort study to determine three- and five-year outcomes. Arthritis Rheum. 2012;64(7):2375-86.
  2. Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2012;64(3):895-907.
  3. Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355(6):581-92.
  4. Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell. 2010;140(6):784-90.
This page was last updated on April 8th, 2011