Abstracts tagged "Bioinformatics"

Abstract Number: 0780 • ACR Convergence 2023
Assessing Differential Effects of DMARDs on Psoriasis Area and Severity Index and Patient Global Assessment in Subgroups of Patients with Active PsA Treated over 52-weeks with Secukinumab in a Non-Interventional Trial (AQUILA) Using a Multistage Clustering Approach
Michaela Koehm¹, Maximilian Klippstein², Sabine Kugler³, Sina Mackay³, Daniel Schulz³, Asmir Vodencarevic⁴, Guillaume Wendt⁴, Daniel Peterlik⁴, Uta Kiltz⁵, Jan Brandt-Juergens⁶ and Frank Behrens⁷, ¹University Hospital Frankfurt, Frankfurt, Germany, ²Fraunhofer Institute for Translational Medicine and Pharmacology ITMP, Fraunhofer Cluster of Excellence Immune Mediated Diseases CIMD, Frankfurt, Germany, ³Fraunhofer Institute for Intelligent Analysis and Information Systems IAIS, Fraunhofer Cluster of Excellence Immune Mediated Diseases CIMD, Sankt Augustin, Germany, ⁴Novartis Pharma GmbH, Nürnberg, Germany, ⁵Rheumazentrum Ruhrgebiet, Herne, Germany, ⁶rheumatologische Schwerpunktpraxis, Berlin, Germany, ⁷Goethe-University & Fraunhofer ITMP, Frankfurt, Germany
Background/Purpose: Individualized treatment strategies are of high importance in the treatment of patients with active psoriatic arthritis (PsA), a heterogeneous immune-mediated disease. IL-17 inhibition has…
Abstract Number: 1635 • ACR Convergence 2023
Deep Learning Accurately Predicts Focus Score and Diagnosis of Primary Sjögren Syndrome Using Labial Salivary Gland Biopsies
Louis Basseto¹, Julien Duquesne¹, Michael Barnes², Elena Pontarini², Amaya Gallagher-Syed², Michele Bombardieri², Benjamin A Fisher³, Saba Nayar³, Clovis Adam⁴, Thierry Lazure⁴, Xavier Mariette⁵, Samuel Bitoun⁶ and Vincent Bouget¹, ¹Scienta Lab, Paris, France, ²Queen Mary University of London, London, United Kingdom, ³University of Birmingham, Birmingham, United Kingdom, ⁴Université Paris-Saclay, Paris, France, ⁵Université Paris-Saclay, Le Kremlin-Bicêtre, France, ⁶CHU Bicêtre APHP, Le Kremlin-Bicêtre, France
Background/Purpose: Primary Sjögren Syndrome (pSS) diagnosis relies on the weighted sum of three EULAR/ACR 2016 criteria: i) quantification of lymphocyte infiltration in labial salivary gland…
Abstract Number: 2435 • ACR Convergence 2023
Deciphering Rheumatoid Arthritis Disease Activity-Associated Gene Signatures and Cell Subsets Through Single Cell Transcriptomics
Marie Binvignat¹, Brenda Miao², Camilla Wibrand³, Monica Yang⁴, Dmitry Rychkov⁵, Emily Flynn⁴, Umair Khan⁴, Joanne Nititham⁶, Alex Carvidi⁴, Melissa Krueger⁴, Erene Niemi⁴, Yang Sun⁴, Gabriella Fragiadakis⁴, David Klatzmann¹, Jeremie SELLAM⁷, Encarnita Mariotti-Ferrandiz¹, Andrew Gross⁴, Chun Jimmie Ye⁴, Atul Butte⁴, Lindsey Criswell⁶, Mary Nakamura⁸ and Marina Sirota⁵, ¹Sorbonne Université, Paris, France, ²University of California San Francisco, Fremont, CA, ³Aarhus University, Aarhus, Denmark, and University of California San Francisco, San Francisco, CA, ⁴University of California San Francisco, San Francisco, CA, ⁵Bakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, ⁶NIH/NHGRI, Bethesda, MD, ⁷Sorbonne Université APHP, Paris, France, ⁸UCSF/SFVAHCS, San Francisco, CA
Background/Purpose: Single cell transcriptional profiling (scRNA-Seq) is valuable in identifying gene signatures and cell subpopulations associated with rheumatoid arthritis (RA). However prior studies have often…
Abstract Number: 0046 • ACR Convergence 2023
Circulating Monocytes in RA, SSc, and SLE Have Radically Altered and Unique Transcriptional & Epigenetic Profiles
Kieran Woolcock¹, Nila Servaas², Maarten van der Kroef², Stephen Delaney³, John Cole¹, Aridaman Pandit² and Carl Goodyear¹, ¹University of Glasgow, Glasgow, United Kingdom, ²University Medical Center Utrecht and Utrecht University, Utrecht, Netherlands, ³Research and Early Development, Respiratory and Immunology (R&I), BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden
Background/Purpose: Rheumatoid arthritis (RA), Systemic lupus erythematosus (SLE), and Systemic sclerosis (SSc) are all systemic rheumatic autoimmune diseases with a dysregulated myeloid compartment. Monocytes are…
Abstract Number: 0884 • ACR Convergence 2023
Identification of a Mast Cell-high Synovial Pathotype of Osteoarthritis
Shady Younis, Audrey Bai, heidi Wong, Zelda Love, Qian Wang and William Robinson, Stanford School of Medicine, Stanford, CA
Background/Purpose: Mast cells in the osteoarthritis (OA) synovium correlate with disease severity. This study aimed to further elucidate the role of mast cells in OA…
Abstract Number: 1657 • ACR Convergence 2023
Mapping the Network of Coordinated Immune Dysregulation in Juvenile Dermatomyositis at Single-cell Resolution
Gabrielle Rabadam¹, Camilla Wibrand², Emily Flynn¹, George Hartoularos¹, Yang Sun¹, Susan Kim³, Chun Jimmie Ye¹, Zev Gartner¹, Marina Sirota⁴ and Jessica Neely¹, ¹University of California San Francisco, San Francisco, CA, ²Aarhus University, Aarhus, Denmark, and University of California San Francisco, San Francisco, CA, ³UCSF Benioff Children's Hospital, San Francisco, CA, ⁴Bakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA
Background/Purpose: Juvenile Dermatomyositis (JDM) is a rare multisystem autoimmune condition that involves complex immune responses in both innate and adaptive compartments. Currently, we have a…
Abstract Number: 2438 • ACR Convergence 2023
Synovial Tissue Single-Cell Analysis Demonstrates Differential Fibroblast Populations Between RA and PsA Which Display Distinct Function
Órla Tynan¹, Mary Canavan², Achilleas Floudas³, Conor Smith⁴, Aoife O' Rourke⁴, Dumitru Anton⁵, Carl Orr⁶, Douglas Veale⁷ and Ursula Fearon⁸, ¹Molecular Rheumatology Department, Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland, EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, Dublin, Ireland, ²Molecular Rheumatology Department, Trinity Biomedical Sciences Institute, Trinity College Dublin, EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, School of Biochemistry & Immunology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland, ³Dublin City University, Dublin, Ireland, ⁴Translational Immunology, Trinity Biomedical Sciences Institute, Dublin, Ireland, ⁵Molecular Rheumatology Department, Trinity Biomedical Sciences Institute, Trinity College Dublin, EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, Dublin, Ireland, ⁶EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, Dublin, Ireland, ⁷St.Vincent's University Hosp, Dublin, Ireland, ⁸Trinity College Dublin, Dublin, Ireland
Background/Purpose: Synovial fibroblasts (FLS) are key contributors to joint inflammation and damage in patients with Rheumatoid (RA) and Psoriatic Arthritis (PsA). Recent studies have identified…
Abstract Number: 0063 • ACR Convergence 2023
Investigating Macrophage Repopulation in the Synovium
Jessica Maciuch¹, Yidan Wang², Slim Fourati¹, Harris Perlman¹ and Deborah Winter³, ¹Northwestern University, Chicago, IL, ²Northwestern University, Hanover Park, IL, ³Northwestern University, Skokie, IL
Background/Purpose: Rheumatoid Arthritis (RA) is an autoimmune disease characterized by chronic inflammation of the joints. Macrophages are a key mediator of pro-inflammatory signaling, contributing to…
Abstract Number: 0899 • ACR Convergence 2023
Complement Factor I (CFI) Gene Expression by Kidney Tubular Cells Is Increased in Lupus Nephritis Patients with Interstitial Fibrosis and Tubular Atrophy
Shudan Wang¹, John Greally², Masako Suzuki³, Jee-Young Moon², Tao Wang², Yvonne M Saenger², Brad Rovin⁴ and J. Michelle Kahlenberg⁵, ¹Albert Einstein College of Medicine / Montefiore Medical Center, New York, NY, ²Albert Einstein College of Medicine, Bronx, NY, ³Texas A&M University, College Station, TX, ⁴Ohio State University, Columbus, OH, ⁵University of Michigan, Ann Arbor, MI
Background/Purpose: Tubulointerstitial injury is a strong predictor of progression to kidney failure in lupus nephritis (LN). Prior animal studies suggest intrarenal complement activation has an…
Abstract Number: 1658 • ACR Convergence 2023
Title: Inflammatory Arthritis Across the Age-Spectrum: Single-Cell Profiling of the Inflamed Synovium in Children with Juvenile Idiopathic Arthritis
Chrissy Bolton¹, Christopher Mahony², Charlotte Smith², Vicky Alexiou³, Huong Nguyen³, Patricia Reis-Nisa², Søren Lomholt⁴, Annie Hackland², Sugrah Sultan⁵, Klaudia Kupiec³, Sunit Davda⁶, Charlene Foley⁶, Calliope Dendrou¹, Elizabeth C Rosser⁷, Accelerating Medicines Partnership Program RA SLE Network⁸, Anna Helena Jonsson⁹, Fan Zhang¹⁰, Michael Brenner¹¹, Soumya Raychaudhuri⁹, Christopher Buckley¹, Manigandan Thyagarajan⁵, Zishan Shiekh⁵, Sandrine Compeyrot-Lacassagne⁶, Samantha Chippington⁶, Mark Coles¹, Eslam Al-Abadi⁵, Andrew Filer², Tissue Research in Childhood Onset Inflammatory Arthritis (TRICIA) Consortium¹², Lucy R Wedderburn³ and Adam Croft², ¹University of Oxford, Oxford, United Kingdom, ²University of Birmingham, Birmingham, United Kingdom, ³UCL Great Ormond Street Institute of Child Health, London, United Kingdom, ⁴Aarhus University, Aarhus, Denmark, ⁵Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, United Kingdom, ⁶Great Ormond Street Hospital, London, United Kingdom, ⁷University College London, London, United Kingdom, ⁸Cedars-Sinai Medical Center, Los Angeles, CA, ⁹Brigham and Women's Hospital, Boston, MA, ¹⁰University of Colorado, Aurora, CO, ¹¹Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ¹²MRC, Birmingham, United Kingdom
Background/Purpose: Understanding the unique and shared pathogenic processes between childhood-onset and adult-onset inflammatory arthritides is needed to guide more effective drug development and their application…
Abstract Number: 2461 • ACR Convergence 2023
Transcriptional Derepression of CHD4/NuRD-regulated Genes in the Muscle of Patients with Dermatomyositis and anti-Mi2 Autoantibodies
Iago Pinal-Fernandez¹, Jose Cesar Milisenda², Katherine Pak¹, Sandra Muñoz-Braceras³, Maria Casal-Dominguez³, Jose Jiram Torres-Ruiz³, Stefania Dell´Orso⁴, Faiza Naz⁴, Gustavo Gutierrez-Cruz⁴, Yaiza Duque-Jaimez², Ana Matas-Garcia², Joan Padrosa⁵, Francesc J Garcia-Garcia², Mariona Guitart-Manpel², Gloria Garrabou², Ernesto Trallero-Araguas⁶, Brian Wallit⁷, Julie Paik⁸, Jemima Albayda⁸, Lisa Christopher-Stine⁸, Tom Lloyd⁹, Josep Maria Grau², Albert Selva-O’Callaghan⁶ and Andrew Mammen¹⁰, ¹National Institutes of Health, Bethesda, MD, ²Muscle Research Unit, Internal Medicine Service, Hospital Clinic, Barcelona, Spain, ³Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁵CIBERER, Barcelona, Spain, Barcelona, Spain, ⁶Systemic Autoimmune Disease Unit, Vall d’Hebron Institute of Research, Barcelona, Spain, ⁷National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD, ⁸Johns Hopkins University, Baltimore, MD, ⁹Johns Hopkins University School of Medicine, Baltimore, MD, ¹⁰NIH, Bethesda, MD
Background/Purpose: Myositis is a heterogeneous family of diseases including dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM), antisynthetase syndrome (AS), and inclusion body myositis (IBM). Myositis-specific autoantibodies…
Abstract Number: 0108 • ACR Convergence 2023
Decoding Antiphospholipid Syndrome Laboratory Test Outcomes in a Large Multicenter Electronic Health Record Database
Emily Balczewski, Wenying Liang, Amala Ambati, Yu Zuo, Karandeep Singh and Jason Knight, University of Michigan, Ann Arbor, MI
Background/Purpose: Electronic health record (EHR) data provide an inexpensive, information-rich tool to study rare diseases like antiphospholipid syndrome (APS). Many such studies rely on structured…
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: 1659 • ACR Convergence 2023
Cellular Deconstruction of Stromal and Myeloid Cell Compartments in the Inflamed Synovium of Juvenile Idiopathic Arthritis
Christopher Mahony¹, Chrissy Bolton², Charlotte Smith¹, Vicky Alexiou³, Huong Nguyen³, Patricia Reis-Nisa¹, Søren Lomholt⁴, Annie Hackland¹, Sunit Davda⁵, Sugrah Sultan⁶, Charlene Foley⁵, Catherine Cotter⁶, Klaudia Kupiec³, Calliope Dendrou², Elizabeth C Rosser⁷, Accelerating Medicines Partnership (AMP): RA/SLE⁸, Fan Zhang⁹, Soumya Raychaudhuri⁸, Michael Brenner¹⁰, Christopher Buckley², Manigandan Thyagarajan⁶, Accelerating Medicines Partnership Program RA SLE Network¹¹, Zishan Shiekh⁶, Sandrine Compeyrot-Lacassagne⁵, Samantha Chippington⁵, Mark Coles², Eslam Al-Abadi⁶, Andrew Filer¹, Tissue Research in Childhood Onset Inflammatory Arthritis (TRICIA) Consortium¹², Lucy R Wedderburn³ and Adam Croft¹, ¹University of Birmingham, Birmingham, United Kingdom, ²University of Oxford, Oxford, United Kingdom, ³UCL Great Ormond Street Institute of Child Health, London, United Kingdom, ⁴Aarhus University, Aarhus, Denmark, ⁵Great Ormond Street Hospital, London, United Kingdom, ⁶Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, United Kingdom, ⁷University College London, London, United Kingdom, ⁸Brigham and Women's Hospital, Boston, MA, ⁹University of Colorado, Aurora, CO, ¹⁰Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ¹¹Cedars-Sinai Medical Center, Los Angeles, CA, ¹²MRC, Birmingham, United Kingdom
Background/Purpose: The synovial membrane is the primary target tissue during the effector phase of inflammatory arthritis in children and young people with Juvenile Idiopathic Arthritis…
Abstract Number: 2482 • ACR Convergence 2023
Preinflammatory Mesenchymal (PRIME) Cell Signature Genes Enrichment Predicts Treatment Response and Joint Prognosis in Rheumatoid Arthritis
Takayuki Fujii¹, Dana Orange², Caryn Hale², Koichi Murata¹, Hideo Onizawa¹, Akira Onishi¹, Masao Tanaka³, Akio Morinobu⁴ and Shuichi Matsuda⁵, ¹Department of Advanced Medicine for Rheumatic Diseases, Graduate School of Medicine, Kyoto University, Kyoto, Japan, ²Rockefeller University, New York, NY, ³Graduate School of Medicine, Kyoto University, Kyoto, Japan, ⁴Department of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan, ⁵Department of Orthopaedic Surgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan
Background/Purpose: This study aimed to determine predictors of treatment response and radiographic progression following the initiation of biological disease-modifying antirheumatic medications (bDMARDs) in patients with…

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