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Abstracts tagged "genomics"

  • Abstract Number: 0936 • ACR Convergence 2020

    Urine Proteomics and Single Cell Transcriptomics Identify IL-16 as a Biomarker for Lupus Nephritis

    Andrea Fava1, Jill Buyon2, Chandra Mohan3, Ting Zhang3, H. Michael Belmont4, Peter Izmirly5, Robert Clancy6, Jose Monroy-Trujillo7, Celine Berthier8, Anne Davidson9, Nir Hacohen10, David Wofsy11, Deepak Rao12, Soumya Raychaudhuri13, The Accelerating Medicines Partnership in SLE Network14, William Apruzzese15 and Michelle Petri16, 1Johns Hopkins University, Baltimore, MD, 2Department of Medicine, NYU School of Medicine, New York, NY, 3UT Houston, Houston, 4New York University, New York, NY, 5Department of Medicine, New York University School of Medicine, New York, NY, 6NYU School of Medicine, New York, 7Johns Hopkins University, Baltimore, 8University of Michigan, Ann Arbor, 9Northwell Health, New York, 10Broad Institute, Boston, 11University of California San Francisco, San Francisco, CA, 12Brigham and Women's Hospital, Boston, MA, 13Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, 14Multiple Institutions, Multiple Cities, 15., Boston, 16Johns Hopkins University School of Medicine, Timonium, MD

    Background/Purpose: Treatment of lupus nephritis relies on renal histopathological features. However, renal biopsies do not capture patient-specific active biological pathways. Urine proteomic biomarkers could revolutionize…
  • Abstract Number: 0979 • ACR Convergence 2020

    The Identification of Shared and Unique Myeloid Cell States in Pre- and Post-nephritic Lupus Mouse Models, Sle.Yaa1 and NZBW

    Paul Hoover1, Michael Peters2, David Lieb3, Heather Geiger4, Rakesh Mishra5, Nir Hacohen2 and Anne Davidson6, 1Brigham and Women's Hospital, Boston, MA, 2Broad Institute, Boston, 3Broad Institute, Boston, MA, 4New York Genome Center, New York, NY, 5Feinstein Institute, Manhasset, NY, 6Northwell Health, New York

    Background/Purpose:Poor renal prognosis in lupus nephritis (LN) is associated with an abundance of renal macrophages and dendritic cells (DCs) but the role of these cells…
  • Abstract Number: 1443 • ACR Convergence 2020

    High-dimensional Analyses of Checkpoint-inhibitor Related Arthritis Synovial Fluid Cells Reveal a Unique, Proliferating CD38hi Cytotoxic CD8 T Cell Population Induced by Type I IFN

    Runci Wang1, Karmela Kim Chan2, Amy Cunningham-Bussel1, Gregory Vitone3, Aidan Tirpack2, Caroline Benson2, Gregory Keras4, Anna Helena Jonsson5, Michael Brenner5, Laura Donlin6, Anne Bass7 and Deepak Rao1, 1Brigham and Women's Hospital, Boston, MA, 2Hospital For Special Surgery, New York, NY, 3Hospital for Special Surgery, New York, 4Brigham and Women’s Hospital, Division of Rheumatology, Inflammation, and Immunity, Boston, MA, 5Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 6Hospital for Special Surgery, Weill Cornell Medicine, New York, 7Hospital for Special Surgery/Weill Cornell Medicine, New York, NY

    Background/Purpose: Checkpoint inhibitors (CI) used to treat cancer frequently trigger immune-related adverse events, including inflammatory arthritis. CI-related arthritis (CIrA) occurs in ~5% of treated patients,…
  • Abstract Number: 1452 • ACR Convergence 2020

    Transcriptomic Meta-analysis Reveals a Core Transcriptional Program in Murine B Cell Anergy and Implicates Immunometabolic Regulation as a Central Pathway in Maintaining Non-responsiveness of Autoreactive B-cells in Both Mouse and Man

    Isaac Harley1, Bergren Crute2, Andrew Getahun2 and John Cambier3, 1University of Colorado Anschutz Medical Campus, Aurora, CO, 2University of Colorado – Anschutz Medical Campus, Aurora, 3Univ, Aurora

    Background/Purpose: The mechanisms self-tolerance loss that lead to autoantibody-mediated autoimmune disease remain underdefined. The rapid reversibility of peripheral B-cell tolerance in murine models suggests that…
  • Abstract Number: 007 • 2020 Pediatric Rheumatology Symposium

    Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis

    Emily Shuldiner 1, Elaine Remmers 2, Miranda Marion 3, Marc Sudman 4, Colleen Satorius 5, International Childhood Arthritis Genetics Consortium (INCHARGE), Juvenile Arthritis Consortium for the Immunochip (JACI), Wendy Thomson 6, Michael Ombrello1, Patricia Woo 7, Carl Langefeld 8, Sampath Prahalad 9 and Susan Thompson 10, 1NIAMS, NIH, Bethesda, 2National Human Genome Research Institute, Bethesda, 3Wake Forest University, Winston-Salem, 4Cincinnati Children's Hospital Medical Center, Cincinnati, 5NHGRI, NIH, Bethesda, 6Manchester Academic Health Science Centre, Manchester, United Kingdom, 7London, United Kingdom, 8Winston Salem, 9Emory + Children's Pediatric Institute, Atlanta, 10Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati

    Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…
  • Abstract Number: 55 • 2019 ACR/ARP Annual Meeting

    A Novel Subclass of Intravascular Non-classical, Tissue Resident Synovial Monocyte Is Critical for Rheumatoid Arthritis Pathogenesis

    Anna Montgomery 1, Shang-Yang Chen 1, Deborah Winter 2 and Harris Perlman2, 1Northwestern University, Chicago, 2Northwestern University Feinberg School of Medicine, Division of Rheumatology, Chicago

    Background/Purpose: There are at least three populations of circulating monocytes; classical, intermediate and non-classical. We demonstrated that circulating non-classical monocytes are required for the effector…
  • Abstract Number: 1018 • 2019 ACR/ARP Annual Meeting

    Renal Single Cell Genomics Links Type II Interferon and Lupus Nephritis in African-Americans

    Andrea Fava1, Yuji Zhang 2, Jill Buyon 3, Chaim Putterman 4, Nir Hacohen 5, Arnon Arazi 5, Celine Berthier 6, Deepak Rao 7, Michael Brenner 8, David Wofsy 9, Anne Davidson 10, Mathias Kretzler 11, David Hildeman 12, E. Steve Woodle 12, Betty Diamond 10, Thomas Tuschl 13, Evan Der 14, Hemant Suryawanshi 13, H. Michael Belmont 15, Peter Izmirly 16, Robert Clancy 16, The Accelerating Medicines Partnership 17 and Michelle Petri 18, 1Johns Hopkins University, Baltimore, 2University of Maryland, Baltimore, 3NYU School of Medicine, New York, 4Albert Einstein College of Medicine, New York, NY, 5Broad Institute, Cambridge, 6University of Michigan, Ann Arbor, MI, 7Brigham and Women's Hospital, Boston, MA, 8Brigham and Women’s Hospital:, Boston, 9UCSF, San Francisco, 10Feinstein Institutes for Medical Research, Manhasset, 11University of Michigan, Ann Arbor, 12University of Cincinnati, Cincinnati, 13Rockefeller Research Laboratories, New York, 14Albert Einstein College of Medicine, New York, 15New York University School of Medicine, Ney York, 16New York University School of Medicine, New York, 17Multiple Organizations, USA, 18Johns Hopkins University School of Medicine, Baltimore, MD

    Background/Purpose: Compared to Caucasian, African-American ethnicity is associated with a higher risk of developing systemic lupus erythematosus, lupus nephritis, high-risk histological features, resistance to treatment,…
  • Abstract Number: 1039 • 2019 ACR/ARP Annual Meeting

    Molecular Profiling Identifies Immunologic Subgroups and Informs Mechanism of Action of Baricitinib in SLE

    Thomas Dörner1, Yoshiya Tanaka 2, Michelle Petri 3, Josef Smolen 4, Daniel Wallace 5, Ernst Dow 6, Damiano Fantini 6, Richard Higgs 6, Guilherme Rocha 6, Brenda Crowe 6, Robert Benschop 6, Adam Abel 6, Nicole Byers 6, Maria Silk 6, Stephanie de Bono 6 and Robert Hoffman 6, 1Charite Universitätsmedizin Berlin and DRFZ, Berlin, Germany, 2University of Occupational and Environmental Health Japan, Kitakyushu, Japan, 3Johns Hopkins University School of Medicine, Baltimore, MD, 4Medical University of Vienna, Vienna, Austria, 5Cedars-Sinai Medical Center/University California at Los Angeles, Los Angeles, CA, 6Eli Lilly and Company, Indianapolis, IN

    Background/Purpose: Baricitinib is an oral selective Janus kinase (JAK) 1 and JAK2 inhibitor. In the Phase II, 24-week, randomized, placebo-controlled, double-blind study JAHH (NCT02708095), once-daily…
  • Abstract Number: 1041 • 2019 ACR/ARP Annual Meeting

    Computational Methods for Drug Repositioning of Systemic Sclerosis Using Gene Fold-Change and Network Analyses

    Dillon Popovich1, Michael Whitfield 2, Yue Wang 3, Guoshuai Cai 4 and Mengqi Huang 5, 1Geisel School of Medicine at Dartmouth College, Hanover, 2Geisel School of Medicine at Dartmouth College, Biomedical Data Science at Dartmouth College, Hanover, 3Geisel School of Medicine at Dartmouth, Hanover, NH, 4Arnold school of Public Health, University of South Carolina, Columbia, SC, 5Geisel School of Medicine at Dartmouth College, Hanover, NH

    Background/Purpose: Clinical trials with systemic sclerosis (SSc) patients have yet to lead to an FDA approved treatment.  We have adopted a gene fold-change analysis called…
  • Abstract Number: 2012 • 2019 ACR/ARP Annual Meeting

    A Composite IFN-Based Signature Is Associated with a Filgotinib-Specific Clinical Response in bDMARD-Experienced Rheumatoid Arthritis Patients

    Peter Taylor1, Bryan Downie 2, Emon Elboudwarej 3, Rachael Hawtin 3, Amer M. Mirza 3 and Jinfeng Liu 3, 1University of Oxford, Oxford, United Kingdom, 2Gilead Sciences, Inc., Foster Citty, CA, 3Gilead Sciences, Inc., Foster City, CA

    Background/Purpose: Filgotinib (FIL), an oral, selective, Janus Kinase 1 (JAK1) inhibitor was effective in Phase 3 studies of active RA in patients (pts) with inadequate…
  • Abstract Number: 579 • 2018 ACR/ARHP Annual Meeting

    Changes in DNA Methylation Identify Response to Treatment with Methotrexate and TNF Inhibitors Among RA Patients

    Cameron Adams1, Katie Marker1, Melissa Krueger2, Lisa Barcellos1 and Lindsey A. Criswell3, 1School of Public Health, UC Berkeley, Berkeley, CA, 2UC San Francisco, San Francisco,, CA, 3University of California San Francisco, San Francisco, CA

    Background/Purpose: Epigenetic modifications including DNA methylation are implicated in the development and progression of autoimmune diseases, such as rheumatoid arthritis  [MIM 180300]. Evidence indicates that…
  • Abstract Number: 1059 • 2018 ACR/ARHP Annual Meeting

    Differentially-Utilized Transcription Factors and Enhancers in Rheumatoid Arthritis (RA) Fibroblast-like Synoviocytes

    Jonathan Mills1, Gary S. Firestein2 and Brian Pedersen2, 1Rheumatology, University of California, San Diego, San Diego, CA, 2Medicine, University of California San Diego, La Jolla, CA

    Background/Purpose: RA fibroblast-like synoviocytes (FLS) display a unique aggressive phenotype with a distinct epigenetic profile marked by altered chromatin accessibility. We hypothesized that differentially utilized…
  • Abstract Number: 1903 • 2018 ACR/ARHP Annual Meeting

    Molecular Analysis of a Skin Equivalent Tissue Culture Model System of Systemic Sclerosis Using RNA Sequencing, Epigenetic Assays, Histology, and Immunoassays

    Diana M. Toledo1, Mengqi Huang2, Yue Wang2, Bhaven K. Mehta2, Tammara A. Wood3, Avi Smith4, Yolanda Nesbeth5, Irena Ivanovska6, Brock Christensen7, Patricia A. Pioli8, Jonathan Garlick4 and Michael L. Whitfield9, 1Department of Molecular & Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 2Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 3Department of Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, 4Tufts University School of Medicine, Boston, MA, 5Celdara Medical, LLC, Lebanon, NH, 6Celdara Medical, LLC, Hanover, NH, 7Geisel School of Medicine at Dartmouth, Hanover, NH, 8Microbiology and Immunology, Geisel School of Medicine at Dartmouth, Hanover, NH, 9Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH

    Background/Purpose: The molecular mechanisms of systemic sclerosis (SSc) have been difficult to study outside of patient samples. Mouse models often lack key features of the…
  • Abstract Number: 1962 • 2018 ACR/ARHP Annual Meeting

    HLA Contributions to Risk and Protection for Anti-Centromere Autoantibody-Positive Scleroderma

    Elaine F. Remmers1, Theresa Alexander2, Nadia D. Morgan3, Ami A. Shah4, Maureen D. Mayes5, Adebowale Adeyemo1, Ayo Doumatey1, Amy Bentley1, Daniel Shriner6, Settara C Chandrasekharappa1, Mary A. Carns7, Lorinda Chung8, Lindsey A. Criswell9, Chris T. Derk10, Robyn T. Domsic11, Heather Gladue12, Avram Goldberg13, Jessica K. Gordon14, Vivien Hsu15, Reem Jan16, Dinesh Khanna17, Thomas A. Medsger Jr.18, Paula S. Ramos19, Marcin A. Trojanowski20, Lesley Ann Saketkoo21, Elena Schiopu22, Victoria Shanmugam23, Benjamin D. Korman24, Brynn Kron9, S. Louis Bridges Jr.25, Kathleen D. Kolstad26, Elana J. Bernstein27, Suzanne Kafaja28, Kathleen Maksimowicz-McKinnon29, Rick Silver30, Virginia D. Steen31, John Varga32, Charles Rotimi1, Francesco Boin33, Fredrick M. Wigley34, Daniel L. Kastner35 and Pravitt Gourh36, 1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 2National Institutes of Health, Bethesda, MD, 3Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, 4Division of Rheumatology, Johns Hopkins University School of Medicine, Baltimore, MD, 5Rheumatology, University of Texas McGovern Medical School, Houston, TX, 6National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 7Northwestern University, Feinberg School of Medicine Scleroderma Program, Chicago, IL, 8Immunology and Rheumatology, Stanford University School of Medicine, Palo Alto, CA, 9University of California San Francisco, San Francisco, CA, 10Rheumatology, University of Pennsylvania, Philadelphia, PA, 11Medicine - Rheumatology, University of Pittsburgh, Pittsburgh, PA, 12Rheumatology, Arthritis and Osteoporosis Consultants of the Carolinas, Charlotte, NC, 13NYU Langone Medical Center, New York, NY, 14Rheumatology, Hospital for Special Surgery, New York, NY, 15Rheumatology, Robert Wood Johnson University Scleroderma Program, New Brunswick, NJ, 16Medicine, Rheumatology, University of Chicago, Chicago, IL, 17Division of Rheumatology, Department of Internal Medicine, University of Michigan Scleroderma Program, University of Michigan, Ann Arbor, MI, 18University of Pittsburgh, Pittsburgh, PA, 19Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC, 20Boston University School of Medicine, Boston, MA, 21Rheumatology, Tulane University School of Medicine, New Orleans, LA, 22University of Michigan, Ann Arbor, MI, 23Rheumatology, The George Washington University, Washington, DC, 24Division of Allergy/Immunology and Rheumatology and Center for Musculoskeletal Research, School of Medicine and Dentistry, University of Rochester Medical School, Rochester, New York, USA, Rochester, NY, 25Clinical Immunology & Rheum, Univ of Alabama, Birmingham, AL, 26Rheumatology, Stanford University Medical Center, Stanford, CA, 27Rheumatology, Columbia University, New York, NY, 28David Geffen School of Medicine, UCLA, Los Angeles, CA, 29Rheumatology, Henry Ford Hospital, Detroit, MI, 30Rheumatology, Medical University of SC, Charleston, SC, 31Rheumatology, MedStar Georgetown University Hospital, Washington, DC, 32Northwestern University, Chicago, IL, 33Rheumatology, University California, San Francisco, San Francisco, CA, 34Rheum Div/Mason F Lord, Johns Hopkins University, Baltimore, MD, 35Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 36Rheumatology, NIAMS, National Institutes of Health, Bethesda, MD

    Background/Purpose:  Anti-nuclear autoantibodies are a hallmark of scleroderma with anti-centromere antibody (ACA) recognizing centromeric antigens.  ACA-positive patients have longstanding Raynaud’s, limited cutaneous disease and increased…
  • Abstract Number: 1966 • 2018 ACR/ARHP Annual Meeting

    Transcriptome and Methylome Integrative Molecular Analysis Uncovers a New Systemic Autoimmune Disease Classification

    Guillermo Barturen1, Sepideh Babaei2, Francesc Catala-Moll3, Zuzanna Makowska2, Antonio García-Gómez3, Anne Buttgereit4, Elena Carnero-Montoro1, Sikander Hayat4, Martin Kerick5, Thomas Charlon6, David C Gemperline7, Lucas Le Lann8, Rosa Quirantes-PIné9, Isabel Borrás-Linares10, Brian Muchmore1, Jorge Kageyama4, Javier Rodríguez-Ubreva3, Alvaro Fernández-Ochoa9, Pedro Carmona Sanz11, Christophe Jamin8, Ralf Lesche2, Robert J. Benschop7, Chris Chamberlain12, Ernst R. Dow7, Tania Gomes1, Maria Juárez13, Laurence Laigle14, Jacqueline Marovac12, Fiona MacDonald15, Jerome Wojcik6, Esteban Ballestar16, Lorenzo Beretta17, Maria Orietta Borghi18, Johan Frostegård19, Maria Luisa Garcia20, Javier Martín5, Jacques-Olivier Pers8, Yves Renadineau21, Antonio Segura Carretero9 and Marta Alarcón-Riquelme1,19, 1Medical Genomics, Center for Genomics and Oncological Research (GENYO), Granada, Spain, 2Pharmaceuticals Division, Bayer Pharma Aktiengesellschaft, Berlin, Germany, 3Cancer Epigenetics and Biology Program, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain, 4Bayer Pharma Aktiengesellschaft, Berlin, Germany, 5Institute of Parasitology and Biomedicine López Neyra, Spanish National Research Council, Granada, Spain, 6QuartzBIO, SA, Geneva, Switzerland, 7Eli Lilly and Company, Indianapolis, IN, 8U1227, Université de Brest, Inserm, Labex IGO, CHU de Brest, Brest, France, 9Department of Analytical Chemistry, University of Granada, Granada, Spain, 10Analytical Chemistry, University of Granada, Granada, Spain, 11Unit of Bioinformatics, Center for Genomics and Oncological Research (GENYO), Pfizer-University of Granada-Andalusian Regional Government, Health Sciences Technology Park, Granada, Spain, 12UCB Pharma, Slough, United Kingdom, 13UCB, Slough, United Kingdom, 14Institut de Recherches Internationales Servier, Suresnes, France, 15Bayer Pharma G, Berlin, Germany, 16Cancer Epigenetics and Biology Programme (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain, 17Scleroderma Unit, Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, 18University of Milan, IRCCS Istituto Auxologico Italiano, Milan, Italy, 19Unit for Chronic Inflammatory Diseases, Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden, 20Nano-Imaging, BIONAND. Centro Andaluz de Nanotecnología y Biomedicina, Malaga, Spain, 21U1227, Université de Brest, inserm, Labex IGO, CHU de brest, Brest, France

    Background/Purpose: Systemic autoimmune diseases (SADs) are chronic inflammatory conditions with autoimmune aetiology and many common clinical features, difficulting diagnosis and adequate treatment decisions. Finding new…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

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