Abstracts tagged "genomics"

Abstract Number: 1839 • ACR Convergence 2025
Transcriptional Profiling of Whole Blood and Kidney Biopsy Samples from Lupus Nephritis and IgA Nephropathy Patients Suggests Different Disease Pathways
Christopher Sisk¹, Loqmane Seridi², Alan Perlman³, Matthew Loza², Sheng Gao², Thomas Parker⁴, Daniel Levine⁴, Thangamani Muthukumar⁵, Yonatan Bardash⁶, Benjamin Horowitz⁷, Surya Seshan⁵ and James Chevalier³, ¹Johnson & Johnson, San Diego, CA, USA, San Diego, CA, CA, ²Johnson & Johnson, Spring House, PA, ³The Rogosin Institute, New York, NY, ⁴The Rogosin Institute, Weill Cornell Medical College, New York, NY, ⁵Weill Cornell Medical College, New York, NY, ⁶Hackensack Meridian Health, Hackensack, NJ, ⁷Columbia University Medical Center, New York, NY
Background/Purpose: Lupus nephritis (LN) is a severe complication of systemic lupus erythematosus (SLE), associated with significant morbidity and mortality. IgA nephropathy (IgAN) is the most…
Abstract Number: 0893 • ACR Convergence 2025
Transcriptomic insights into GCA compared to clinically diverse controls: Inflammation, Aging, Therapeutic Targets and the role of SPP1 in the temporal artery
Ingrid Lindquist¹, Alisha Eskew², Dongsoek Choi³, David Wilson⁴, Diva Salomao⁵, Hillary Stiefel⁴, Daniel Albert⁴, Kiana Vakil-Gilani⁶, Daniela Ghetie⁷, James Rosenbaum⁸ and Marcia Friedman⁹, ¹Portland VA Medical Center, Portland, OR, ²OHSU, Portland, OR, ³OHSU, Portland, ⁴Casey Eye Institute OHSU, Portland, OR, ⁵Mayo Clinic, Rochester, MN, ⁶PeaceHealth, Portland, OR, ⁷OHSU, Lake Oswego, OR, ⁸Legacy Devers Eye Institute, Portland, OR, ⁹Immpact Bio, Beaverton, OR
Background/Purpose: Giant cell arteritis (GCA) is the most common vasculitis in people over 50 years old and is a clinical diagnosis bolstered by non-specific inflammatory…
Abstract Number: 0021 • ACR Convergence 2025
DoCTIS: A Single Cell RNA-Seq Atlas of Drug Response To Targeted Therapies
Antonio Julià¹, Yolanda Guillén², Paloma Vela Casasempere³, Antonio Fernández Nebro⁴, Carlos Marras⁵, Santos Castañeda⁶, Jaime Calvo Alén⁷, Jesús Tornero Molina⁸, Juan Cañete⁹, Eugeni Domènech¹⁰, Javier Gisbert¹¹, Jose M. Carrascosa¹², Eduardo Fonseca¹³, Luis Bujanda Fernández De pierola¹⁴, Valle García Sánchez¹⁵, Britta Siegmund¹⁶, Giampiero Girolomoni¹⁷, Holger Heyn¹⁸, Laura Jiménez Gracia¹⁸, Pere Santamaria¹⁹, Edgar Angelats²⁰, Richard Myers²¹, Sergio H. Martínez Mateu², Juan Ángel Patiño Galindo², Ernest Choy²² and Sara Marsal¹, ¹Vall d'Hebron Hospital Research Institute, Rheumatology Research Group, Barcelona, Spain, ²IMIDomics, Barcelona, Spain, ³Hospital General Universitario de Alicante, Rheumatology, Alicante, Spain, ⁴Hospital Regional Universitario Carlos Haya, Rheumatology, Málaga, Spain, ⁵Hospital Universitario Virgen de la Arrixaca, Rheumatology, Murcia, Spain, ⁶Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ⁷Hospital Universitario de Araba, Rheumatology, Vitoria, Spain, ⁸Hospital Universitario de Guadalajara, Rheumatology, Guadalajara, Spain, ⁹Rheumatology Department, Hospital Clínic and IDIBAPS, Barcelona, Spain, Barcelona, Spain, ¹⁰Hospital Universitari Germans Trias i Pujol, Gastroenterology, Badalona, Spain, ¹¹Hospital Universitario La Princesa, Rheumatology, Madrid, Spain, ¹²Hospital Universitari Germans Trias i Pujol, Dermatology, Badalona, Spain, ¹³Complejo Hospitalario Universitario de A Coruña, Dermatology, A Coruña, Spain, ¹⁴Hospital Universitario de Donostia, Gastroenterology, San Sebastián, Spain, ¹⁵Hospital Universitario Reina Sofía, Gastroenterology, Córdoba, Spain, ¹⁶Charité-Universitätsmedizin Berlin, Gastroenterology, Berlin, Germany, ¹⁷University of Verona, Dermatology, Verona, Spain, ¹⁸Centre for Genomic Regulation (CNAG-CRG), Barcelona, Spain, ¹⁹Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelonoa, Spain, ²⁰Hospital Clínic-IDIBAPS, Barcelona, Spain, ²¹HudsonAlpha Institute for Biotechnology, Huntsville, AL, ²²Division of Infection and Immunity, CREATE Centre, Cardiff University, Cardiff, United Kingdom
Background/Purpose: Targeted therapies have revolutionized the management of immune-mediated inflammatory diseases (IMIDs), however, there is a substantial number of patients who respond poorly to a…
Abstract Number: 1829 • ACR Convergence 2025
Multiomic Investigation of Juvenile Idiopathic Arthritis Synovium Reveals Immune Cell Heterogeneity
Abigail Thielbar¹, Tracy Ting², Lexi Auld³, Kelly Rogers⁴, Megan Quinlan-Waters⁵, Sheila Angeles-Han⁴, Ekemini Ogbu², Daniel Lovell², Jennifer Huggins⁶, Grant Schulert², Patricia Vega-Fernandez² and Yuriy Baglaenko⁴, ¹Cincinnati Children's Hospital, Cincinnati, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Cincinnati Children's Hospital Medical Center, Division of Rheumatology, Cincinnati, OH, ⁴Cincinnati Children's Hospital, Cincinnati, OH, ⁵Cincinnati Children's Hospital Medical Center, CCHMC, ⁶Cincinnati Children's Medical Center, Cincinnati, OH
Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common chronic inflammatory rheumatic disease of childhood, affecting 1:1,000 children worldwide. The hallmark of JIA is immune-mediated…
Abstract Number: 0693 • ACR Convergence 2025
Impact of X Chromosome Dosage on the Development of Diffuse and Limited Systemic Sclerosis in Klinefelter, Triple X, and Turner Syndromes: A Multicenter Cohort Study
Hanieh Akbari¹, Anna-Kay Palmer² and Irene Tan³, ¹Jefferson Einstein Montgomery Medical Center, Norristown, PA, ²Jefferson Einstein Philadelphia Hospital, Department of Internal Medicine, Philadelphia, PA, ³Einstein Healthcare Network Philadelphia - Jefferson Health, Bala Cynwyd, PA
Background/Purpose: Diffuse and limited systemic sclerosis (SSc) are autoimmune connective tissue diseases with a strong female predominance, suggesting a potential role for X chromosome dosage…
Abstract Number: 1826 • ACR Convergence 2025
Single Nuclei Multiome of JDM Muscle Biopsies Reveals Novel Upregulation of Inflammatory and Vascular Pathways
Shannon O'Connor, Casey Swoboda, Matthew Weirauch, Alexander Zygmunt, Douglas Millay and Leah Kottyan, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Juvenile dermatomyositis (JDM) is a multisystem vasculopathy and inflammatory myopathy characterized by proximal muscle weakness, distinct rash, and risk of long-term complications such as…
Abstract Number: 0845 • ACR Convergence 2025
Machine Learning–Based Skin Transcriptome Classifier (v2.0) Links SSc Molecular Subtypes to Disease Severity and Progression
Zhiyun Gong¹, Rezvan Parvizi², Helen Jarnagin¹, Haobin Chen³, Madeline Morrisson⁴, Tammara Wood⁵, Monique Hinchcliff⁶, Dinesh Khanna⁷ and Michael Whitfield⁸, ¹Dartmouth College, Lebanon, NH, ²Dartmouth, lebanon, NH, ³Dartmouth Collge, Lebanon, NH, ⁴Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁵Dartmouth, Hanover, NH, ⁶Yale School of Medicine, Westport, CT, ⁷University of Michigan, Ann Arbor, MI, ⁸Geisel School of Medicine, Lebanon, NH
Background/Purpose: Systemic Sclerosis (SSc) is a clinically and molecularly heterogeneous autoimmune disease. We identified five intrinsic molecular subtypes in SSc by applying semi-supervised machine learning…
Abstract Number: 1793 • ACR Convergence 2025
Sex-associated changes to synovial macrophages in the aging joint
Matthew Dapas¹, Erica De Jong², Yidan Wang³, Cally Mills³, Samuel Dowling⁴, Tyler Therron⁵, Carla Marie Cuda³, Dawn Bowdish⁶ and Deborah Rachelle Winter⁷, ¹Northwestern University Feinberg School of Medicine, Chicago, IL, ²McMaster Immunology Research Centre, Hamilton, ON, Canada, ³Northwestern University, Chicago, IL, ⁴Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁵Northwestern Feinberg School of Medicine, Chicago, IL, ⁶McMaster University, Hamilton, ON, Canada, ⁷Northwestern University, Skokie, IL
Background/Purpose: Macrophages are found in nearly every tissue of the body where they maintain homeostasis and drive healthy immune response. However, macrophages are dysregulated with…
Abstract Number: 0819 • ACR Convergence 2025
Subcellular resolution spatial transcriptomics reveals immune-stromal crosstalk within the synovium of patients with juvenile idiopathic arthritis
Jun Inamo¹, Roselyn Fierkens², Michael Clay², Clara Lin³, Kari Hayes², Nathan Rogers⁴, Heather Leach² and Kentaro Yomogida², ¹University of Colorado School of Medicine, Aurora, CO, ²University of Colorado, Aurora, CO, ³Children's Hospital Colorado, Aurora, CO, ⁴Children’s Hospital Colorado, Aurora, CO
Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common chronic pediatric rheumatic disease, yet the spatial immune architecture of inflamed synovium remains poorly characterized. Prior…
Abstract Number: 1763 • ACR Convergence 2025
Spatial Organization and Function of Disease-Associated Macrophages in Lupus Nephritis: Insights from Cross-Species Analyses
Paul Hoover¹, Chirag Raparia², Rollin Leavitt³, Nir Hacohen⁴, Arnon Arazi⁵ and Anne Davidson², ¹Brigham and Women's Hospital, Boston, MA, ²Feinstein Institutes for Medical Research, Manhasset, NY, ³Broad Institute, Boston, MA, ⁴Broad Institute, Cambridge, MA, ⁵The Feinstein Institutes for Medical Research, Manhasset
Background/Purpose: Myeloid cells are linked to kidney injury in lupus nephritis (LN) but lack targeted therapies, underscoring the need to better understand myeloid biology in…
Abstract Number: 0812 • ACR Convergence 2025
Anti-CD206 CAR T Cell Immunotherapy Mitigates Dermal Pathology in Systemic Sclerosis
Chanhyuk Park¹, Helen Jarnagin², Asmaa Mohamed³, Noelle Kosarek⁴, Owen Wilkins¹, Fred Kolling¹, Yina Huang¹, Michael Whitfield⁵ and Patricia Pioli¹, ¹Geisel School of Medicine at Dartmouth, Lebanon, NH, ²Dartmouth College, Lebanon, NH, ³Geisel School of Medicine at Dartmouth, Charlottesville, VA, ⁴Dartmouth Geisel School of Medicine, Lebanon, NH, ⁵Geisel School of Medicine, Lebanon, NH
Background/Purpose: Systemic sclerosis (SSc) is a progressive, chronic multi-system disorder of unknown etiology that is characterized by immune dysfunction, fibrosis, and loss of dermal white…
Abstract Number: 0888 • ACR Convergence 2024
Genetically Determined Peptidylglycine Alpha-amidating Monooxygenase (PAM) Mediated Amidation Regulates Tissue Damage by Rheumatoid Arthritis Synovial Fibroblasts
Kevin Sheridan¹, Emma Doris¹, Maria Pimenta¹, Jemma Falkov¹, Matthew Fisher², Munitta Muthana², Denis Shields¹, Richard Mains³, Betty Eipper³, Christopher Buckley⁴ and Anthony Wilson⁵, ¹University College Dublin, Dublin, Ireland, ²University of Sheffield, Sheffield, United Kingdom, ³University of Connecticut, Connecticut, ⁴University of Oxford, Oxford, United Kingdom, ⁵UCD, Dublin, Dublin, Ireland
Background/Purpose: The SNP rs26232 is associated with both risk and severity of rheumatoid arthritis (RA), with the C allele associated with the susceptibility to RA,…
Abstract Number: 1761 • ACR Convergence 2024
Juvenile Idiopathic Arthritis Genetic Risk Haplotypes: Relevance to Children of African Ancestry
Sabrina George¹, Hannah C Ainsworth², Kaiyu Jiang³, Gilad Barshad⁴, Adam He⁴, Edward Rice⁴, Carl D Langerfeld², Charles G Danko⁴ and James N Jarvis³, ¹University at Buffalo Jacobs School of Medicine, Buffalo, NY, ²Wake Forest University, Winston-Salem, NC, ³University of Washington School of Medicine, Seattle, WA, ⁴Cornell University Baker School of Veterinary Medicine, Ithaca, NY
Background/Purpose: - Numerous juvenile idiopathic arthritis (JIA) risk loci have been identified, overwhelmingly from cohorts of children of European ancestry (EA). The extent to which…
Abstract Number: 2634 • ACR Convergence 2024
Transcriptomic Stratification Predicts Response to Rituximab, Abatacept or the Association of Hydroxychloroquine and Leflunomide in 3 Randomized Controlled Clinical Trials in Sjögren’s Disease
Baptiste Chevet¹, Valerie Devauchelle², Elena Pontarini³, Valentin Baloche⁴, Michele Bombardieri⁵, Simon Bowman⁶, Michael Barnes⁷, Antoine Sreih⁸, Jinqi Liu⁸, Sheila Kelly⁹, Antonia Christodoulou⁸, Hussain Badani¹⁰, Philippe Moigeon¹¹, Laurence LAIGLE¹², Perrine Soret¹³, Christelle Le dantec¹⁴, Jacques-Olivier Pers¹⁵, Marta Alarcon-Riquelme¹⁶, Guillermo Barturen¹⁷, Xavier Mariette¹⁸, Joel Van Roon¹⁹, Raphaele Seror²⁰, Gaetane Nocturne¹⁸, Divi Cornec²¹ and Nathan Foulquier¹⁴, and PRECSEADS Clinical Consortium and NECESSITY consortium, ¹University Hospital of Brest, Brest, France, ²UBO, Brest, France, ³William Harvey Research Institute, London, United Kingdom, ⁴University Medical Center, Utrecht, Utrecht, Netherlands, ⁵Centre for Experimental Medicine and Rheumatology, The William Harvey Research Institute, Queen Mary University of London, London, United Kingdom, ⁶Department of Rheumatology, University Hospital Birmingham, Birmingham, United Kingdom, ⁷William Harvey Research institute, Centre for Translational Bioinformatics, London, United Kingdom, ⁸Bristol Myers Squibb, Princeton, NJ, ⁹Bristol Myers Squibb, Doylestown, PA, ¹⁰Bristol Myers Squibb, Lawrence Township, NJ, ¹¹Servier Laboratories, France, Gif sur Yvette, France, ¹²Servier Laboratories, France, SURESNES, France, ¹³Servier, Paris-Saclay, Paris, Ile-de-France, France, ¹⁴LBAI. UMR 1227, University of Brest, Brest, France, ¹⁵University of Brest, Brest, France, ¹⁶Fundación Progreso y Salud, Andalusian Government, Granada, Spain, ¹⁷Center for Genomics and Oncological Research (GENYO), Andalusia, Spain, ¹⁸Service de Rhumatologie, Hôpital Bicêtre, AP-HP, Le Kremlin Bicetre, France, ¹⁹University Medical Center Utrecht, Utrecht, Netherlands, ²⁰Service de Rhumatologie, Hôpital Bicêtre, AP-HP, le Kremlin Bicetre, Ile-de-France, France, ²¹Service de Rhumatologie, CHU de Brest, Brest, France
Background/Purpose: Sjögren’s disease (SjD) is a clinically and biologically heterogeneous disease. To date, no phase-III trial showed efficacy in reducing the symptoms or systemic activity…
Abstract Number: 0889 • ACR Convergence 2024
Unraveling the Progression of Sjögren’s Disease at the Cellular and Histological Level Using Single-cell and Spatial Transcriptomics
Tomás Gomes¹, Matilde Bandeira², Rui do Amaral Vieira¹, Bianca Correia¹, Sofia Barreira³, Pedro Gaspar⁴, Rita Cruz-Machado⁵, Beatriz Filipe¹, Pedro Ávila-Ribeiro¹, Filipa Ribeiro¹, Bruno Vidal¹, Beatriz Val¹, Filipa Costa⁶, Ana Teodósio Chícharo⁷, Augusto Silva¹, Manuel Silvério-Antonio¹, João Forjaz Lacerda¹, João Eurico Fonseca¹, Dolores López Presa⁸, Nikita Khmelinskii¹, Saumya Kumar⁹, Luis Graca¹ and Vasco C. Romão¹⁰, ¹Instituto de Medicina Molecular (iMM Lisboa), Lisboa, Portugal, ²Centro Hospitalar Universitario Lisboa Norte, Lisboa, Portugal, ³Unidade Local de Saúde Santa Maria, Serviço de Reumatologia e Doenças Ósseas Metabólicas, Lisboa, Portugal, Lisbon, Portugal, ⁴Internal Medicine Department, Hospital Santa Maria, Unidade Local de Saúde Santa Maria, Lisbon, Portugal, Povoa de Santa Iria, Portugal, ⁵Unidade Local de Saúde Santa Maria, Serviço de Reumatologia e Doenças Ósseas Metabólicas, Lisboa, Portugal, Lisboa, Portugal, ⁶Rheumatology Department, Unidade Local de Saúde de Santa Maria. Rheumatology Research Unit, Instituto de Medicina Molecular João Lobo Antunes, Lisbon, Portugal, ⁷Unidade Local de Saúde do Algarve, Hospital de Faro, Faro, Portugal, Faro, Portugal, ⁸Pathology Department, Unidade Local de Saúde de Santa Maria, Lisbon Academic Medical Centre, Lisboa, Portugal, ⁹TWINCORE, a joint venture between the Helmholtz-Centre for Infection Research (HZI) and the Hannover Medical School (MHH), Hannover, Germany, Hannover, Germany, ¹⁰Rheumatology Department, ULS Santa Maria & Rheumatology Research Unit, Instituto Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
Background/Purpose: Sjögren’s Disease (SjD) is a systemic autoimmune disease that primarily targets salivary and lacrimal glands, causing tissue deterioration and loss of function. Disease progression…

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