Abstracts tagged "Bioinformatics"

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…
Abstract Number: 0131 • ACR Convergence 2023
Identifying Antinuclear Antibody Positive Individuals at Risk for Systemic Autoimmune Disease: Development and Validation of a Real-Time Risk Model
April Barnado, Ryan Moore, Hank Domenico, Sarah Green, Alex Camai, Ashley Suh, Bryan Han, Katherine Walker, Audrey Anderson, Lannawill Caruth, Anish Katta, Allison McCoy and Daniel W. Byrne, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Up to 20% of the general population has a positive ANA without having autoimmune disease. Currently, no tools exist to help clinicians interpret the…
Abstract Number: 0922 • ACR Convergence 2023
The Multi-Omic Landscape of Systemic Lupus Erythematosus Patients Highlights Metabolic and Immune Pathways Associated with Distinctive Clinical Profiles
Tomás Cerdó¹, Carlos Perez-Sanchez², Laurel Woodridge³, Mª Angeles Aguirre⁴, Rafaela Ortega Castro⁵, Ismael Sánchez-Pareja⁶, Laura Muñoz-Barrera¹, Pedro Segui¹, Christian Merlo⁶, Pedro Ortiz Buitrago⁷, Desiree Ruiz Vilchez⁸, Maria del Carmen Abalos-Aguilera⁸, Pilar Font Ugalde¹, Nuria Barbarroja⁹, Alejandro Escudero¹⁰, Elizabeth Jury³ and Chary Lopez-Pedrera¹¹, ¹IMIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Spain, ²IMIBIC, Córdoba, Spain, ³Centre for Rheumatology Research, Division of Medicine, University College London, London, United Kingdom, ⁴Reina Sofía University Hospital/ Rheumatology Department, Córdoba, Spain, ⁵Hospital Reina Sofía, Cordoba, Spain, ⁶IMIBIC/Reina Sofia Hospital/University of Cordoba, Rheumatology, Córdoba, Spain, ⁷IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁸Rheumatology Department, Reina Sofia University Hospital/Maimonides Biomedical Research Institute of Cordoba (IMIBIC), Córdoba, Spain, ⁹University of Cordoba, Córdoba, Spain, ¹⁰SAS, Córdoba, Spain, ¹¹IMIBIC - Reina Sofia Hospital, Córdoba, Spain
Background/Purpose: Systemic lupus erythematosus (SLE) poses a significant challenge at the diagnostic and treatment levels due to its severe multisystem nature and notable heterogeneity in…
Abstract Number: 1661 • ACR Convergence 2023
Spatial Transcriptional Alterations in the Cellular Landscape of Pediatric Scleroderma Skin
Kathryn Torok¹, Ying-Ju Lai², Zhongli Xu³, Anwesha Sanyal³, Giffin Werner³, Theresa Hutchins³, Claire Cheng³ and Wei Chen³, ¹University of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, ²University of Pittbsurgh, Pittsburgh, PA, ³University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Recent single-cell RNA sequencing (scRNA seq) data has been generated across several tissues in autoimmune diseases, helping to understand the cellular and molecular underpinnings…

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