Abstracts tagged "Bioinformatics"

Abstract Number: 1422 • ACR Convergence 2024
Evaluation of Salivary Gland Focus Score in Sjogren’s Disease Using Deep Learning: A Step Towards Tissue Biomarker Discovery
Konstantinos Panagiotopoulos¹, Nikos Tsiknakis², Dimitrios Zaridis³, Athanasios Tzioufas⁴, Dimitrios I. Fotiadis⁵ and Andreas Goules⁶, ¹Pathophysiology Department, National and Kapodistrian University of Athens, Athens, Greece, ²Karolinska Institutet, Department of Oncology-Pathology, Computational BioMedicine Laboratory, Foundation for Research and Technology Hellas, Stockholm, Sweden, ³School of Electrical & Computer Engineering and Biomedical Research Institute National Technical University of Athens and FORTH, Unit of Medical Technology and Intelligent Information Systems, Department of Materials Science and Engineering, University of Ioannina, Ioannina, Ioannina, Greece, ⁴LAIKO HOSPITAL, Athens, Greece, ⁵Unit of Medical Technology and Intelligent Information Systems, University of Ioannina & FORTH, Ioannina, Greece, ⁶GENERAL HOSPITAL LAIKO ATHENS, Athens, Greece
Background/Purpose: Sjogren's Disease (SjD) is characterized by focal sieladenitis in minor salivary gland biopsies (mSGB), which is evaluated using the Focus Score (FS). FS ≥…
Abstract Number: 2160 • ACR Convergence 2024
Development of a Lupus Chatbot
Leila Khalili¹, Pooja Desai², Maya Souvignier¹, Sophie Askanase², Lena Mamykina² and Anca Askanase¹, ¹Columbia University Medical Center, New York, NY, ²CUIMC, New York, NY
Background/Purpose: Artificial Intelligence (AI) is poised to take the world of medicine by storm. The next decade will likely bring major changes in technology use…
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: 0456 • ACR Convergence 2023
The “Topics” in the Electronic Health Record of Rheumatoid Arthritis Patients Before Initiating Targeted Therapies and Association with Future Treatment Course
Jason Tang¹, Dana Weisenfeld², Kumar Dahal², Linshanshan Wang³, Clara-Lea Bonzel³, Yumeko Kawano², Gregory McDermott², Tianxi Cai⁴ and Katherine Liao², ¹Harvard College, Belmont, MA, ²Brigham and Women's Hospital, Boston, MA, ³CELEHS Lab, Cambridge, MA, ⁴Harvard T.H. Chan School of Public Health, Boston, MA
Background/Purpose: Strong clinical predictors for response to biologic and targeted synthetic disease modifying rheumatic drugs (b/tsDMARDs) in rheumatoid arthritis (RA) have yet to be identified.…
Abstract Number: 1145 • ACR Convergence 2023
Human Cardiovascular Disease Model Provides Transcriptomic Evidence of Cardiovascular Risk Associated with Febuxostat
Ryan Feaver¹, Scott Bowers², Banumathi Cole¹, Steve Hoang¹, Mark Lawson¹, Justin Taylor¹, Brian LaMoreaux², Lin Zhao², Brad R Henke¹, Brian Johns¹, Andrew C Nyborg², Brian R Wamhoff¹ and Rob Figler¹, ¹HemoShear Therapeutics, Charlottesville, VA, ²Horizon Therapeutics, Deerfield, IL
Background/Purpose: Gout is a chronic inflammatory arthritis that is undertreated and managed with the xanthine oxidase inhibitors febuxostat or allopurinol. Despite the United States Food…
Abstract Number: 1738 • ACR Convergence 2023
Identification of Homeostatic and Inflammatory Synovial Fibroblast Signatures in Synovial Tissue Biopsies of Healthy Controls and Patients with Rheumatoid Arthritis
Brianne Barker¹, Órla Tynan², Conor Smith³, Dumitru Anton⁴, Carl Orr⁵, Mary Canavan⁶, Douglas Veale⁷ and Ursula Fearon⁸, ¹Molecular Rheumatology, Trinity Biomedical Sciences Institute, Trinity College Dublin, EULAR Centre for Rheumatic and Arthritic Diseases, St Vincent's University Hospital, University College Dublin, Dublin, Ireland, ²Molecular 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, ³Translational Immunology, Trinity Biomedical Sciences Institute, Dublin, Ireland, ⁴Molecular 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, ⁵EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, Dublin, Ireland, ⁶Molecular 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, ⁷St.Vincent's University Hosp, Dublin, Ireland, ⁸Trinity College Dublin, Dublin, Ireland
Background/Purpose: Recent literature has identified different synovial fibroblast (FLS) populations within RA synovium with distinct inflammatory profiles. Despite current advances in classifying heterogeneity of FLS…
Abstract Number: 0018 • ACR Convergence 2023
Alternative Splicing and Expected Protein Changes in Muscle Biopsies from Different Types of Idiopathic Inflammatory Myopathies
Rayan Najjar¹, Iago Pinal-Fernandez², Andrew Mammen³ and Tomas Mustelin¹, ¹University of Washington, Seattle, WA, ²National Institutes of Health, Bethesda, MD, ³NIH, Bethesda, MD
Background/Purpose: Alternative splicing of mRNA results in important biological impacts with increasing evidence implicating it in the pathology of autoimmune diseases. However, it is understudied…
Abstract Number: 0502 • ACR Convergence 2023
Developing Electronic Health Record Algorithms to Accurately Identify Psoriatic Arthritis Patients
Paras Karmacharya¹, Avery Fortier¹, Georgina Sellyn¹, Alexis R Ogdie² and Leslie Crofford³, ¹Vanderbilt University, Nashville, TN, ²University of Pennsylvania, Philadelphia, PA, ³Vanderbilt University Medical Center, Melbourne, AR
Background/Purpose: Psoriatic arthritis (PsA) is a chronic, progressive inflammatory disease of the skin and musculoskeletal system, affecting over half a million US adults. With relatively…
Abstract Number: 1161 • ACR Convergence 2023
Proteasome Inhibitor Repurposed for Dermatomyositis: Results of a Drug Repurposing Analysis Based on the Transcriptomic Signature of Patients’ Perifascicular Fibers Validated in Pre-clinical Models
Léa Debrut¹, Margherita Giannini², Céline Keime¹, Daniela Rovito¹, Béatrice Lannes³, Anne-Laure Charles⁴, Daniel Metzger¹, Bernard Geny⁵, Gilles Laverny¹ and Alain Meyer⁶, ¹Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France, ²Nouvel Hopital Civil, Strasbourg, Strasbourg, France, ³Hôpital de Hautepierre - Hôpitaux Universitaires de Strasbourg, Strasbourg, France, ⁴UR3072, Centre de Recherche en Biomédecine de Strasbourg (CRBS), Strasbourg, France, ⁵Nouvel Hôpital Civil, Strasbourg, France, ⁶Hôpitaux Universitaires de Strasbourg, Strasbourg, France
Background/Purpose: Dermatomyositis (DM) is an autoimmune myopathy responsible for muscle weakness associated with decreased quality of life and increased mortality. DM muscular histology is characterized…
Abstract Number: 1759 • ACR Convergence 2023
Runx1 Is a Key Transcription Factor That Drives Synovial Fibroblast Pathogenicity in Rheumatoid Arthritis
Christopher Mahony¹, Samuel Kemble², Paulynn Chin¹, Cesar Prada³, Annie Hackland¹, Patricia Reis-Nisa¹, Lucy-Jayne Marsh¹, Peter Keane¹, Constanze Bonifer¹, Christopher Buckley⁴, Stevephen Sansom⁵, Mark Coles⁴ and Adam Croft¹, ¹University of Birmingham, Birmingham, United Kingdom, ²University Birmingham, Rugeley, United Kingdom, ³The Kennedy Institute, Oxford, United Kingdom, ⁴University of Oxford, Oxford, United Kingdom, ⁵Kennedy Institute of Rheumatology, Oxford, United Kingdom
Background/Purpose: Fibroblasts are key effector cells in rheumatoid arthritis (RA) underpinning joint inflammation and damage. Synovial tissue fibroblasts are heterogenous and acquire pathogenic cell states…
Abstract Number: 0021 • ACR Convergence 2023
Shared Genetic Susceptibility Between Rheumatoid Arthritis and Bipolar Disorder: Analyses from Genome-Wide Association Studies
Jiayi Zheng¹, Ruoning Ni², Nevena Barjaktarovic³ and Yiming Luo⁴, ¹The Wright Center for Graduate Medical Education, Scranton, PA, ²University of Iowa Hospitals and Clinics, Coralville, IA, ³The Wright Center for Community Health, South Abington Township, PA, ⁴Division of Rheumatology, Department of Medicine, Columbia University Irving Medical Center, New York, NY
Background/Purpose: Rheumatoid arthritis (RA) has been associated with bipolar disorder (BD) in epidemiological studies, including a recent Mendelian randomization analysis. This study aims to prioritize…
Abstract Number: 0574 • ACR Convergence 2023
Type I IFN-associated Regulation of Immune Checkpoint Genes in Patients with SLE
Kanwal Zahid Siddiqi¹, Amanda Hempel Zinglersen², Katrine Kjær Iversen¹ and Søren Jacobsen², ¹Copenhagen Research Center for Autoimmune Connective Tissue Diseases (COPEACT), Department of Rheumatology 4242, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark, ²Copenhagen Research Center for Autoimmune Connective Tissue Diseases, Center for Rheumatology and Spine Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
Background/Purpose: Aberrant activation of type I IFN, and subsequent adverse clinical implications, have been widely discussed in relation to SLE. With the lack of consistent…
Abstract Number: 1366 • ACR Convergence 2023
A Unique Cluster of Inflammatory Monocytes and Functionally Intact Regulatory T Cells in Rare Childhood Sjögren’s Disease
Myung-Chul Kim¹, Umasankar De², Nicholas Borcherding³, Joon Paek⁴, Nicole Winn⁵, Indraneel Bhattacharyya⁶, Qing Yu⁷, Ryan Kolb⁸, Theodore Drashansky⁹, Akaluck Thatayatikom¹⁰, Weizhou Zhang⁸ and Seunghee Cha¹¹, ¹Jeju National University, Jeju-si, South Korea, ²University of Florida, Gainesville, FL, ³Washington University School of Medicine in St. Louis, Washington, DC, ⁴Department of Oral & Maxillofacial Diagnostic Sciences, Gainesville, FL, ⁵Division of Oral Medicine, Department of Oral and Maxillofacial Diagnostic Sciences, University of Florida College of Dentistry, Gainesville, FL, ⁶Department of Oral & Maxillofacial Diagnostic Sciences, University of Florida College of Dentistry, Gainesville, FL, ⁷The Forsyth Institute, Cambridge, MA, ⁸Department of Pathology & Immunology, University of Florida, Gainesville, FL, ⁹Cellularity, Inc, Florham Park, NJ, ¹⁰AdventHealth for Children, Orlando, FL, Orlando, FL, ¹¹Department of Oral & Maxillofacial Diagnostic Sciences, University of Florida College of Dentistry and Center for Orphaned Autoimmune Disorders (COAD), Gainesville, FL
Background/Purpose: This study was performed to characterize key immune cell subsets and their interactions in patients with childhood Sjögren's disease (cSjD) for the first time…
Abstract Number: 1843 • ACR Convergence 2023
Detection of Clinically Relevant Subgroups in Patients Undergoing Knee Replacement Using Machine Learning
Brooke McGinley¹, Gabriela Rabasa¹, Jean Liew¹, Tuhina Neogi², David Felson¹ and Michael LaValley³, ¹Boston University, Boston, MA, ²Boston University School of Medicine, Boston, MA, ³Boston University School of Public Health, Arlington, MA
Background/Purpose: In the US the lifetime risk for Knee Replacement surgery (KR) is 7% for men and 9.5% for women, and this accounts for substantial…
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…

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