ACR Meeting Abstracts

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Abstracts tagged "genomics"

  • Abstract Number: 0769 • ACR Convergence 2023

    Development and Validation of a Combined Clinical and Genetic Risk Score for Interstitial Lung Disease in a Large, Multicenter, Prospective Rheumatoid Arthritis Cohort

    Austin Wheeler1, Joshua Baker2, Yangyuna Yang1, Punyasha Roul1, K Wysham3, Grant Cannon4, Gary Kunkel5, Gail Kerr6, Dana Ascherman7, Paul Monach8, Andreas Reimold9, Jill Poole1, Tony Merriman10, Ted R Mikuls11 and Bryant England1, 1University of Nebraska Medical Center, Omaha, NE, 2University of Pennsylvania, Philadelphia, PA, 3VA Puget Sound/University of Washington, Seattle, WA, 4University of Utah and Salt Lake City VA, Salt Lake City, UT, 5University of Utah, Salt Lake City, UT, 6Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, 7University of Pittsburgh, Pittsburgh, PA, 8VA Boston Healthcare System, Boston, MA, 9University of Texas Southwestern Medical Center, Dallas, TX, 10University of Alabama at Birmingham, Birmingham, AL, 11Division of Rheumatology and Immunology, University of Nebraska Medical Center, Omaha, NE

    Background/Purpose: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is an extra-articular manifestation of RA that causes substantial morbidity and mortality. Although some clinical and genetic risk…
  • Abstract Number: 2105 • ACR Convergence 2023

    Cohort-wide Immuno-phenotype Deconvolute Immunological and Clinical Heterogeneity Across Autoimmune Rheumatic Diseases

    Hiroaki Tanaka1, Yukinori Okada2, Shingo Nakayamada1, Yusuke Miyazaki3, Kyuto Sonehara4, Shinichi Namba5, Suguru Honda6, Yuya Shirai7, Kenichi Yamamoto5, Katsunori Ikari8, Masayoshi Harigai9, KOSHIRO SONOMOTO10 and Yoshiya Tanaka1, 1University of Occupational and Environmental Health, Kitakyushu, Japan, 2University of Tokyo / Osaka University / RIKEN, Tokyo, Japan, 3The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Kiakyusyu Fukuoka, Japan, 4University of Tokyo, Tokyo, Japan, 5Osaka University, Osaka, Japan, 6Tokyo Women's Medical University, Tokyo, Japan, 7Osaka University, Suita, Japan, 8Tokyo Women's Medical University School of Medicine, Tokyo, Japan, 9Tokyo Women's Medical University, Division of Rheumatology, Department of Internal Medicine, Tokyo, Japan, 10University of Occupational and Environmental Health, Beppu, Japan

    Background/Purpose: Autoimmune rheumatic diseases (AIRDs) are systemic but heterogeneous diseases characterized by orchestration of disrupted self-tolerance of immune systems. We face a challenge in characterizing…
  • Abstract Number: 0019 • ACR Convergence 2023

    Use of High-plex Data Reveals Novel Insights into the Temporal Artery Processus of Giant Cell Arteritis

    Simon Parreau1, Elsa Molina2, Stéphanie Dumonteil1, Radjiv Goulabchand3, Thomas Naves4, Melanie Bois5, Anne-Laure Fauchais1, Eric Liozon6, Marie-Odile Jauberteau4, Cornelia M. Weyand7 and Kim-Heang Ly1, 1Dupuytren Hospital, Limoges, France, 2Next Generation Sequencing Core, Salk Institute for Biological Studies, La Jolla, CA, 3University of California San Diego, La Jolla, CA, 4INSERM U1308, Limoges, France, 5Mayo Clinic, Rochester, MN, 6Department of Internal Medicine, University Hospital of Limoges, Limoges Cedex, Limoges, France, 7Mayo Clinic School of Medicine and Stanford University, Rochester, MN

    Background/Purpose: Uncover the key coding genes to define new biomarkers or pathways associated with GCA by performing the first in situ spatial profiling characterization of…
  • Abstract Number: 0873 • ACR Convergence 2023

    FOXO Activators as Drugs for Osteoarthritis

    Ichiro Kurakazu, Merissa Olmer, Kevin Myers and Martin K Lotz, Scripps Research Institute, La Jolla, CA

    Background/Purpose: Forkhead box O (FOXO) proteins are a family of transcription factors involved in lifespan, aging, and autophagy. FOXO are essential for maintaining cartilage homeostasis…
  • Abstract Number: 2331 • ACR Convergence 2023

    Molecular Predictors of Treatment Response in Two Trials of Abatacept in Systemic Lupus Erythematosus

    Kevin Thomas1, Miles Smith1, Carla Guthridge1, Nicolas Dominguez1, Susan Macwana1, Wade DeJager1, Catriona Wagner1, Peter Schafer2, Stan Kamp1, Betty Diamond3, David Wofsy4, Aikaterini Thanou5, Cristina Arriens6, Cynthia Aranow3, Joan Merrill1, Judith James1 and Joel Guthridge1, 1Oklahoma Medical Research Foundation, Oklahoma City, OK, 2Bristol Myers Squibb, Belle Mead, NJ, 3Feinstein Institutes for Medical Research, Manhasset, NY, 4University of California San Francisco, San Francisco, CA, 5University of Oklahoma Health, Edmond, OK, 6Oklahoma Medical Research Foundation and University of Oklahoma Health Sciences Center, Department of Arthritis & Clinical Immunology, Oklahoma City, OK

    Background/Purpose: Abatacept (ABA) is a fusion protein that disrupts T cell co-stimulation by inhibiting interactions between CD28 and CD80/86. ABA is effective in RA, but…
  • Abstract Number: 0022 • ACR Convergence 2023

    Validation of a Transcriptomic-Based Machine Learning Model to Establish the Endotype of SLE Patients

    Erika Hubbard1, Prathyusha Bachali2, Kathryn Kingsmore Allison1, Amrie Grammer1 and Peter Lipsky1, 1AMPEL BioSolutions, Charlottesville, VA, 2AMPEL BioSolutions, Redmond, WA

    Background/Purpose: We previously developed a novel machine learning (ML) pipeline leveraging analysis of gene expression data to identify subsets of SLE patients with common molecular…
  • Abstract Number: 0918 • ACR Convergence 2023

    Network Analysis of Genome Sequences Identifies Important Pathways in the Pathogenesis of Childhood-onset Systemic Lupus Erythematosus

    Katie Heitzman1, Sneha Dass1, Linda Hiraki2, Earl Silverman3, Christiaan Scott4, Ana Barrera-Vargas5, Zuoming Deng6, Mariana Kaplan7, Luis Franco8 and Laura Lewandowski9, 1Lupus Genetics and Global Health Disparities Unit, Systemic Autoimmunity Branch, NIAMS, Bethesda, MD, 2The Hospital for Sick Children, Toronto, ON, Canada, 3Silverman, Toronto, ON, Canada, 4Paediatric Rheumatology, Red Cross War Memorial Children’s Hospital and University of Cape Town, Cape Town, South Africa, 5Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, 6National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, 7Lupus Clinical Trials Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH); Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD, 8Functional Immunogenomics Section, Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD, 9Lupus Genetics and Global Health Disparities Unit, Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD

    Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disorder. The pathogenesis of SLE is not fully understood, but high twin/sibling concordance rates suggest…
  • Abstract Number: 2345 • ACR Convergence 2023

    Paired Kidney Biopsies from the AURORA 2 Study of Voclosporin in Active Lupus Nephritis

    Samir Parikh1, Salem Almaani2, Arnon Arazi3, Huijuan Song1, Pearlly Yan1, Estela Puchulu-Campanella1, Clint Abner4, Ernie Yap4, Krista Piper4, Robert B. Huizinga5 and Henry Leher4, 1Ohio State University, Columbus, OH, 2Ohio State University Medical Center, Columbus, OH, 3Broad Institute of MIT and Harvard, Melrose, MA, 4Aurinia Pharmaceuticals Inc., Edmonton, AB, Canada, 5Reformation Consulting Services, North Saanich, BC, Canada

    Background/Purpose: Voclosporin is approved for the treatment of adults with active lupus nephritis. Addition of voclosporin to mycophenolate mofetil (MMF) and low-dose glucocorticoids in the…
  • Abstract Number: 0026 • ACR Convergence 2023

    Mapping Cellular Landscape of Esophageal Epithelium in Systemic Sclerosis Using Single-cell Transcriptomics

    Matthew Dapas1, Hadijat Makinde2, Tyler Therron2, Margarette Clevenger2, Cenfu Wei2, Mary Karns3, Kathleen Aren3, Dustin Carlson2, Alexandra Soriano1, Lutfiyya Muhammad4, John Pandolfino5, Harris Perlman2, Deborah Winter6 and Marie-Pier Tetreault2, 1Northwestern University FSM Division of Rheumatology, Chicago, IL, 2Northwestern University, Chicago, IL, 3Northwestern University Division of Rheumatology, Chicago, IL, 4Northwestern University Feinberg School of Medicine, Chicago, IL, 5Northwestern University, Feinberg School of Medicine, Wilmette, IL, 6Northwestern University, Skokie, IL

    Background/Purpose: Esophageal involvement is one of the strongest predictors of early mortality in individuals with systemic sclerosis (SSc). Individuals with SSc and esophageal involvement typically…
  • Abstract Number: 0948 • ACR Convergence 2023

    Nintedanib Alters Fibroblast and Macrophage Diversity in a 3D Skin Model of Systemic Sclerosis (SSc)

    Noelle Kosarek1, Tamar Abel2, Sasha Shenk3, Tammara Wood2, Jonathan Garlick4, Patricia Pioli5 and Michael Whitfield5, 1Dartmouth Geisel School of Medicine, Lebanon, NH, 2Dartmouth College, Hanover, NH, 3Tufts University, Boston, MA, 4Tufts University School of Dental Medicine, Boston, MA, 5Geisel School of Medicine at Dartmouth, Hanover, NH

    Background/Purpose: Systemic Sclerosis (SSc) is a rare autoimmune disease characterized by fibrosis of the skin and internal organs. While the tyrosine kinase inhibitor Nintedanib is…
  • Abstract Number: 2431 • ACR Convergence 2023

    Integrated Single Cell Multi-omics Analysis in At-Risk for Future Rheumatoid Arthritis (RA) and Early RA Reveals Shared Transcription Factor Profiles in Multiple Cell Lineages

    Cong Liu1, David Boyle1, Adam Savage2, Marie Feser3, Kristen Demoruelle3, kristine Kuhn4, Michael Holer3, kevin Deane3, Palak Genge2, Morgan Weiss2, Veronica Hernandez2, Julian Reading2, Jane Buckner5, Tom Bumol2, Mark Gillespie2, Peter Skene2, Wei Wang6 and Gary Firestein1, 1University of California San Diego, San Diego, CA, 2Allen Institute for Immunology, Seattle, WA, 3University of Colorado Anschutz Medical Campus, Aurora, CO, 4University of Colorado School of Medicine, Aurora, CO, 5Benaroya Research Institute at Virginia Mason, Seattle, WA, 6University of California San Diego, La Jolla, CA

    Background/Purpose: Identifying molecular signatures associated with anti-citrullinated protein antibody (ACPA) positive individuals who are 'at-risk' for future RA (At-Risk) and early RA (ERA) requires comprehensive…
  • Abstract Number: 013 • 2023 Pediatric Rheumatology Symposium

    Applying Pathway Analysis to Whole Genome Data to Identify Pathophysiologic Pathways in Childhood-onset Systemic Lupus Erythematosus

    Katie Heitzman1, Luis Franco2, Linda Hiraki3, Earl Silverman3, Christiaan Scott4, Ana Barrera-Vargas5, Zuoming Deng2, Mariana Kaplan2 and Laura Lewandowski2, 1NIH, Bethesda, MD, 2NIAMS, NIH, Bethesda, MD, 3The Hospital for Sick Children, Toronto, ON, Canada, 4University of Cape Town, South Africa, 5Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de Mexico, Mexico

    Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disorder. The pathogenesis of SLE is not fully understood, but twin/sibling high concordance rate suggests…
  • Abstract Number: 1110 • ACR Convergence 2022

    Solving Sarcoidosis: A Transcriptome-based Meta-analysis of Clinical Sarcoidosis Studies Illustrates Shared Pathophysiology, Identifies Candidate Biomarkers and Suggests a Therapeutic Mechanism of JAK Inhibition

    Ingrid Lindquist1, James T. Rosenbaum2 and Marcia Friedman3, 1Oregon Health and Science University, Portland, OR, 2Legacy Devers Eye Institute, Portland, OR, 3Oregon Health and Science University, Division of Arthritis and Rheumatic Diseases, Portland, OR

    Background/Purpose: Sarcoidosis is a systemic, non-caseating granulomatous disease driven by a dysregulated immune response to environmental antigens. A wide range of clinical manifestations coupled with…
  • Abstract Number: 1731 • ACR Convergence 2022

    Systemic Sclerosis-Associated Class II HLA Alleles Restrict the Diversity of the CDR3 and the T Cell Receptor Repertoire in African American Patients

    Urvashi Kaundal1, Chloe Borden1, Cihan Oguz2, Jinghua Lu2, Emilee Stenson1, Ami Shah3, Maureen Mayes4, Ayo Doumatey5, Amy Bentley5, Daniel Shriner5, Robyn Domsic6, Thomas Medsger7, Paula Ramos8, Richard Silver8, Virginia Steen9, John Varga10, Vivien Hsu11, Lesley Ann Saketkoo12, Elena Schiopu13, Dinesh Khanna14, Jessica Gordon15, Lindsey Criswell16, Heather Gladue17, Chris Derk18, Elana Bernstein19, S. Louis Bridges, Jr.15, Victoria Shanmugam20, Lorinda Chung21, Suzanne Kafaja22, Reem Jan23, Marcin Trojanowski24, Avram Goldberg25, Benjamin Korman26, Settara Chandrasekharappa5, Faiza Naz27, Stefania Dell'Orso1, Adebowale Adeyemo5, Charles Rotimi5, Elaine Remmers5, Francesco Boin28, Fredrick Wigley29, Peter Sun2, Daniel Kastner5 and Pravitt Gourh30, 1National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, 2National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 3Johns Hopkins Rheumatology, Baltimore, MD, 4Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, 5National Human Genome Research Institute, Bethesda, MD, 6University of Pittsburgh, Pittsburgh, PA, 7University of Pittsburgh School of Medicine, Pittsburgh, PA, 8Medical University of South Carolina, Charleston, SC, 9Georgetown University School of Medicine, Washington, DC, 10University of Michigan, Ann Arbor, MI, 11Rutgers-RWJ Medical School, South Plainfield, NJ, 12University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, 13Michigan Medicine, Ann Arbor, MI, 14Division of Rheumatology, Department of Internal Medicine, Scleroderma Program, University of Michigan, Ann Arbor, MI, 15Hospital for Special Surgery, New York, NY, 16National Human Genome Research Institute, NIH, Bethesda, MD, 17Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, 18University of Pennsylvania, Philadelphia, PA, 19Columbia University, New York, NY, 20George Washington University, Great Falls, VA, 21Stanford University, Stanford, CA, 22UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, 23University of Chicago, Chicago, IL, 24Boston University School of Medicine, Boston, MA, 25NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, 26University of Rochester, Rochester, NY, 27National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, 28Cedars-Sinai Medical Center, Los Angeles, CA, 29Johns Hopkins University, Baltimore, MD, 30National Institutes of Health, Bethesda, MD

    Background/Purpose: Systemic sclerosis (SSc) is an autoimmune, fibrotic disorder that disproportionately affects African Americans (AA). Previous work from our lab and others has suggested a…
  • Abstract Number: 1118 • ACR Convergence 2022

    Monocyte Transcriptomic Analysis Uncovers Heterogeneous Gene Expression Profiles in Systemic Lupus Erythematous (SLE) with and Without Subclinical Atherosclerosis

    Laurel Woodridge1, Elvira Chocano Navarro2, George Robinson1, Paul Ashford1, Kirsty Waddington3, Anisur Rahman4, Christine Orengo5, Ines Pineda-Torra6 and Elizabeth Jury1, 1University College London, London, United Kingdom, 2VIHR, Barcelona, Spain, 3University College London (alumni), London, United Kingdom, 4Centre for Rheumatology, Department of Medicine, University College London, London, United Kingdom, 5ISMB / UCL, London, United Kingdom, 6Cabimer, Sevilla, Spain

    Background/Purpose: A leading cause of mortality in SLE is cardiovascular disease (CVD) through accelerated atherosclerosis: the build-up of cells and lipids in the vascular wall.…
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