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562 : Large-Scale Targeted Sequencing Study Links Systemic Juvenile Idiopathic Arthritis with Rare Variants of MEFV, LYST, STXBP2, UNC13D

Researchers

Presenter

  • Mariana Correia Marques

Principal Investigators

  • Emily Shuldiner

  • Elizabeth Schmitz

  • Elizabeth Baskin

  • Andrew Patt

  • Alexei Grom

  • Dirk Foell

  • Marco Gattorno

  • John Bohnsack

  • Rae Yeung

  • Sampath Prahalad

  • Elizabeth Mellins

  • Jordi Antón

  • Claudio Len

  • Sheila Oliveira

  • Patricia Woo

  • Seza Ozen

  • Michael Ombrello

Medical Centers

  • National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD

  • National Institute of Arthritis and Musculoskeletal and Skin Disease, Bethesda, MD.

  • National Center for Advancing Translational Sciences, Rockville, MD

  • Division of Nephrology, Cincinnati Childrens Hospital Medical Center, Cincinnati, OH

  • University Hospital of Muenster, Muenster, Germany

  • Pediatric Clinic and Rheumatology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

  • University of Utah, Salt Lake City, UT

  • Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

  • Emory + Children's Pediatric Institute, Atlanta, GA

  • Pediatric Rheumatology Department. Hospital Sant Joan de Déu. Universitat de Barcelona, Esplugues de Llobregat, Spain

  • Universidade Federal de Sao Paulo, Sao Paulo, Brazil

  • IMS, Universidade Estadual do Rio de Janeiro, Rio De Janeiro, Brazil

  • Kings College London, London, United Kingdom

  • Gazi University Faculty of Medicine, Ankara, Turkey

  • International Childhood Arthritis Genetics Consortium, Bethesda, MD

  • National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD

Locations

  • United States

  • Germany

  • Italy

  • Canada

  • Spain

  • Brazil

  • United Kingdom

  • Turkey

Companies

  • N/A

Study Components

Therapeutic Area

  • Autoimmune (AI)

Disease

  • Rheumatoid arthritis

Biomarkers

  • Nucleotide-binding oligomerization domain-containing protein 2

  • TNF Receptor Superfamily Member 1A

  • Unc-13 Homolog D

  • NLR family pyrin domain containing 3

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • Adaptive

  • Multinational

  • Cohort

Phase

  • N/A

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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