Abstracts tagged "Bioinformatics"

Abstract Number: 1787 • ACR Convergence 2024
Linking Transcriptomic Profiles of Kidney and Blood Samples Provides Insight into Identification of Lupus Nephritis
Andrea Daamen¹, Kathryn Kingsmore², Prathyusha Bachali³, Nan Shen⁴, Amrie Grammer⁵ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²AMPEL BioSolutions, Charlottesville, ³AMPEL BioSolutions, Redmond, WA, ⁴Shanghai Institute of Rheumatology, Renji Hospital, Shanghai Jaiotong University School of Medicine, Shanghai, CN, Shanghai, China (People's Republic), ⁵AMPEL LLC, Charlottesville, VA
Background/Purpose: Current clinical methods to diagnose and evaluate the severity of lupus nephritis (LN) rely on identification of kidney dysfunction followed by invasive kidney biopsies.…
Abstract Number: 2586 • ACR Convergence 2024
Results from the Biopsy Driven Ebio Study: Entheseal Tissue Signature in Response to IL-17 Blockade in Psoriatic Arthritis
Maria Gabriella Raimondo¹, Hashem Mohammadian², Stefano Alivernini³, Simon Rauber¹, Filippo Fagni⁴, Giulia Corte⁵, Koray Tascilar², Maria Antonietta D´Agostino⁶, Georg Schett⁷, Arnd Kleyer⁸ and Andreas Ramming¹, ¹Department of Medicine 3 - Rheumatology and Immunology, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg and Uniklinikum Erlangen, Erlangen, Bayern, Germany, ²Department of Internal Medicine 3, Rheumatology & Immunology, Friedrich-Alexander-University (FAU) Erlangen-Nurnberg and Universitätsklinikum Erlangen, Erlangen, Germany, Erlangen, Germany, ³Division of Rheumatology - Fondazione Policlinico Universitario A. Gemelli IRCCS - Università Cattolica del Sacro Cuore, Rome, Italy, Rome, Italy, ⁴Department of Internal Medicine 3 - Rheumatology and Immunology, Friedrich-Alexander University (FAU) Erlangen-Nürnberg and Universitätsklinikum Erlangen, Erlangen, Germany, Deutsches Zentrum für Immuntherapie (DZI), Friedrich Alexander University Erlangen-Nuremberg and Universitätsklinikum Erlangen, Erlangen, Germany, Erlangen, Germany, ⁵Department of Internal Medicine 3 - Rheumatology and Immunology, Friedrich-Alexander University (FAU) Erlangen-Nürnberg and Universitätsklinikum Erlangen, Erlangen, Germany, Deutsches Zentrum für Immuntherapie (DZI), Friedrich Alexander University Erlangen-Nuremberg and Universitätsklinikum Erlangen, Erlangen, Germany, Erlangen, Bayern, Germany, ⁶Catholic University of Sacred Heart, Rome, Italy, Rome, Italy, ⁷Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany, ⁸Charité - Universittsmedizin Berlin, Erlangen, Germany
Background/Purpose: Enthesitis is considered to be an early event in psoriatic arthritis (PsA) course, representing a hallmark feature of the disease. So far, most of…
Abstract Number: L01 • ACR Convergence 2023
Analysis of 245,388 Diverse Participants in the NIH All of Us Cohort Identifies VEXAS Resiliency in UBA1 M41L Somatic Mutation Carriers
Robert Corty¹ and Alexander Bick², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University, Nashville, TN
Background/Purpose: VEXAS syndrome is a recently-discovered systemic auto-inflammatory disease caused by somatic mutation at position 41 in the X-linked gene UBA1.1 First, 25 older men…
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…
Abstract Number: 2515 • ACR Convergence 2023
Machine Learning-Based Stratification of Mixed Connective Tissue Disease Using Immunophenotyping Data from Patients with Related Autoimmune Diseases
Shinji Izuka¹, Toshihiko Komai¹, Takahiro Itamiya¹, Mineto Ota², Saeko Yamada¹, Yasuo Nagafuchi², Hirofumi Shoda¹, Kosuke Matsuki³, Kazuhiko Yamamoto⁴, Tomohisa Okamura⁵ and Keishi Fujio¹, ¹Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ²Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, Department of Functional Genomics and Immunological Diseases, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, ³Research Division, Chugai Pharmaceutical Co., Ltd., Yokohama City, Japan, ⁴Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo and Laboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, ⁵Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo and Department of Functional Genomics and Immunological Diseases, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan
Background/Purpose: Mixed connective tissue disease (MCTD) is a heterogenous autoimmune disorder with overlapping clinical features of systemic lupus erythematosus (SLE), polymyositis/dermatomyositis, and systemic sclerosis (SSc).…

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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. 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 a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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