Abstracts tagged "Bioinformatics"

Abstract Number: 2633 • ACR Convergence 2024
Multicenter Validation of a Machine Learning Foundation Model to Diagnose Sjögren’s Disease and Identify Histological Biomarkers for Disease Stratification
Julien Duquesne¹, Charlotte Claye¹, Louis Basseto¹, Michael Barnes², Elena Pontarini³, Amaya Syed², Michele Bombardieri⁴, Benjamin A. Fisher⁵, SABA NAYAR⁵, Andreas Goules⁶, Athanasios Tzioufas⁷, Loukas chatzis⁸, Wan Fai Ng⁹, Bec Scane¹⁰, Matilde Bandeira¹¹, Vasco C. Romão¹², Thierry Lazure¹³, Clovis Adam¹⁴, Xavier Mariette¹⁵, Samuel Bitoun¹⁶ and Vincent Bouget¹⁷, and NECESSITY Consortium, ¹Scienta Lab, Paris, France, ²William Harvey Research institute, Centre for Translational Bioinformatics, London, United Kingdom, ³William Harvey Research Institute, London, United Kingdom, ⁴Centre for Experimental Medicine and Rheumatology, The William Harvey Research Institute, Queen Mary University of London, London, United Kingdom, ⁵University of Birmingham, Birmingham, United Kingdom, ⁶GENERAL HOSPITAL LAIKO ATHENS, Athens, Greece, ⁷LAIKO HOSPITAL, Athens, Greece, ⁸Pathophysiology Department, Athens School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, Cholargos Athens, Greece, ⁹Department of Rheumatology, Newcastle University, & HRB Clinical Research Facility, University College Cork, Newcastle upon Tyne, United Kingdom, ¹⁰Department of Rheumatology, Newcastle University, Athens, Greece, ¹¹Centro Hospitalar Universitario Lisboa Norte, Lisboa, Portugal, ¹²Rheumatology Department, ULS Santa Maria & Rheumatology Research Unit, Instituto Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal, ¹³APHP. Université Paris-Saclay, Hôpital Bicêtre, Anatomie et cytologie pathologiques, Paris, France, ¹⁴APHP. Université Paris-Saclay, Hôpital Bicêtre, Laboratoire de neuropathologie, Paris, France, ¹⁵Service de Rhumatologie, Hôpital Bicêtre, AP-HP, Le Kremlin Bicetre, France, ¹⁶Service de Rhumatologie, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicetre, France, ¹⁷Scienta Lab, Gif-sur-Yvette, France
Background/Purpose: Sjögren’s Disease (SjD) classification relies on the EULAR/ACR 2016 criteria: i) quantifying lymphocyte infiltration in labial salivary gland (LSG) biopsies, ii) autoantibody status and…
Abstract Number: 0319 • ACR Convergence 2024
Sporadic Inclusion Body Myositis Novel Autoantibody and Biomarker Research Utilizing Proteome Microarray and Mass Spectrometry Proteomics Analysis
Farbod Moghaddam¹, Mark Tarnopolsky², Valérie Leclair³, marie Hudson³, Ross Mitchell⁴, Katherine Buhler¹, Erin Hatcher⁵, Meifeng Zhang¹, Antoine Dufour¹, Luiz de Almeida¹, Marvin Fritzler⁶ and May Choi¹, ¹University of Calgary, Calgary, AB, Canada, ²McMaster University, Hamilton, ON, Canada, ³McGill University, Montreal, QC, Canada, ⁴University of Alberta, Edmonton, Canada, ⁵McMaster University, Hamilton, Canada, ⁶Mitogen Diagnostics Corp, Calgary, AB, Canada
Background/Purpose: Sporadic inclusion body myositis (sIBM) is often challenging to diagnose because many patients have no known biomarkers (seronegative). Machine learning was applied to identify…
Abstract Number: 0960 • ACR Convergence 2024
The Esophageal Epithelium in Systemic Sclerosis: Cellular and Molecular Dysregulation Revealed by Single-Cell RNA Sequencing
Matthew Dapas¹, Margarette Clevenger¹, Hadijat Makinde², Tyler Therron¹, Dustin Carlson¹, Mary Carns³, Kathleen Aren³, Carrie Richardson², Cenfu Wei², Lutfiyya Muhammad⁴, John Pandolfino¹, Harris Perlman², Deborah Winter⁵ and Marie-Pier Tetreault¹, ¹Northwestern University, Chicago, ²Northwestern University, Chicago, IL, ³Northwestern University Division of Rheumatology, Chicago, IL, ⁴Northwestern Feinberg School of Medicine, Chicago, IL, ⁵Northwestern University, Skokie, IL
Background/Purpose: Systemic sclerosis (SSc) is a rare autoimmune disease characterized by vasculopathy and progressive fibrosis of the skin and internal organs. Individuals with SSc often…
Abstract Number: 1813 • ACR Convergence 2024
Elucidating the Molecular Correlates of Treatment Response in Lupus Nephritis via Imaging Mass Cytometry Proteomics and Machine Learning
Frank Sen Hee Tay¹, Anto Sam Crosslee Louis Sam Titus², Vinaika Maruvada², Sandy Lim¹, Jiacai Cho¹, Thomas Thamboo¹ and Chandra Mohan³, ¹National University Hospital, Singapore, Singapore, ²University of Houston, Houston, ³University of Houston, Houston, TX
Background/Purpose: Lupus nephritis (LN) is a major cause of morbidity and mortality in patients with systemic lupus erythematosus (SLE). Despite the advances in the management…
Abstract Number: 2641 • ACR Convergence 2024
Identification of Systemic Sclerosis Intrinsic Subtypes in the ASSET Clinical Trial Using PBC Gene Expression
Zhiyun Gong¹, Timothy Sullivan², Tammara Wood³, David Fox⁴, Dinesh Khanna⁵ and Michael Whitfield⁶, ¹Dartmouth College, Lebanon, NH, ²Geisel School of Medicine at Dartmouth, Lebanon, NH, ³Dartmouth, Hanover, NH, ⁴University of Michigan, Dexter, MI, ⁵University of Michigan, Ann Arbor, MI, ⁶Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Systemic sclerosis (SSc) is molecularly heterogeneous and distinct subtypes of patients have been identified based on gene expression in skin. Although treatments have improved,…
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: 0185 • ACR Convergence 2023
Classifying Individuals with Rheumatic Conditions as Financially Insecure Using Electronic Health Record Data and Natural Language Processing: Algorithm Derivation and Validation
Mia Chandler¹, Tianrun Cai², Leah Santacroce², Sciaska Ulysse², Katherine Liao² and Candace Feldman², ¹Boston Children's Hospital, Milton, MA, ²Brigham and Women's Hospital, Boston, MA
Background/Purpose: Social determinants of health (SDoH) such as financial insecurity contribute to disparities in rheumatic disease care and outcomes but are not routinely included in…
Abstract Number: 0938 • ACR Convergence 2023
Deconvolution of the Molecular Signature of Very Early Diagnosis of Systemic Sclerosis (VEDOSS) and Established Disease: A Biomarker Blueprint of Scleroderma Disease Continuum
Sunhwa Kim¹, Thierry Sornasse², Vishal Kakkar³, Rebecca Ross⁴, Yingtao Bi⁵, Hengcheng Hu², Lisa Hazelwood², Lauren Reinke-Breen⁶, jozsef karman⁷, Chris Butler², Jennifer Van Camp² and Francesco Del Galdo⁸, ¹AbbVie, Inc., South San Francisco, CA, ²AbbVie, Inc., North Chicago, IL, ³University of Leeds, Leeds, United Kingdom, ⁴Medicine and Health, University of Leeds, Leeds, United Kingdom, ⁵AbbVie, Inc., Worcester, MA, ⁶AbbVie, Inc., Vernon Hills, IL, ⁷AbbVie, Inc., San Francisco, CA, ⁸University of Leeds - Leeds Institute of Rheumatic and Muskuloskeletal Medicine, Leeds, United Kingdom
Background/Purpose: Systemic sclerosis (SSc) is an autoimmune disease that affects multiple organs asynchronously, leading to highly variable fibrotic damage and consequent increased morbidity and mortality.…
Abstract Number: 1697 • ACR Convergence 2023
Molecular Characterisation of Remission and Lupus Low Disease Activity State (LLDAS) by Whole-Blood Transcriptome-Based Pathways in a Pan-European Systemic Lupus Erythematosus Cohort
Ioannis Parodis¹, Julius Lindblom¹, Guillermo Barturen², Rafaela Ortega Castro³, Ricard Cervera⁴, Jacques-Olivier Pers⁵, Fernanda Genre Romero⁶, Falk Hiepe⁷, Maria Gerosa⁸, Laszlo Kovacs⁹, Ellen De Langhe¹⁰, Silvia Piantoni¹¹, Georg Stummvoll¹², Carlos Vasconcelos¹³, Barbara Vigone¹⁴, Torsten Witte¹⁵, Marta Alarcon-Riquelme¹⁶ and Lorenzo Beretta¹⁷, ¹Karolinska Institutet, Stockholm, Sweden, ²Center for Genomics and Oncological Research (GENYO), Andalusia, Spain, ³Hospital Reina Sofía, Cordoba, Spain, ⁴Hospital Clínic de Barcelona, Barcelona, Spain, ⁵Centre Hospitalier Universitaire de Brest, Hospital de la Cavale Blanche, Brest, France, ⁶IDIVAL, Santander, Spain, ⁷Charité Universitatsmedizine - Berlin, Berlin, Germany, ⁸University of Milan, Milano, Italy, ⁹University of Szeged, Szeged, Hungary, ¹⁰Katholieke Universiteit Leuven and Universitair Ziekenhuis Leuven, Leuven, Belgium, ¹¹ASST Spedali Civili and University of Brescia, Brescia, Italy, ¹²Medical University Vienna, Baden, Austria, ¹³Centro Hospitalar do Porto, Porto, Portugal, ¹⁴Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy, ¹⁵Dept of Immunology and Rheumatology, Hannover, Germany, ¹⁶Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹⁷Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di MIlano, Milan, Italy
Background/Purpose: Treating to remission or lupus low disease activity state (LLDAS) are conceptual frameworks for the management of SLE, but the biological milieus underlying these…
Abstract Number: 2540 • ACR Convergence 2023
The Molecular Stratification of Rheumatoid Arthritis Using High-throughput Technologies Is Directly Associated with Disease Activity and Clinical Response
Ismael Sanchez-Pareja¹, Daniel Toro-Dominguez², Carlos Perez-Sanchez³, Laura Muñoz-Barrera¹, Tomás Cerdó¹, Rafaela Ortega Castro⁴, Jerusalem Calvo⁵, Marta Rojas⁶, Pilar Font Ugalde¹, Maria del Carmen Abalos-Aguilera⁷, Desiree Ruiz-Vilchez¹, Christian Merlo-Ruiz¹, Ivan Arias de la Rosa⁸, Mª Angeles Aguirre⁹, Eduardo Collantes Estévez¹⁰, Nuria Barbarroja¹¹, Marta Alarcon-Riquelme¹², Alejandro Escudero Contreras⁵ and Chary Lopez-Pedrera¹³, ¹IMIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Spain, ²GENYO, Granada, Spain, ³IMIBIC, Córdoba, Spain, ⁴Hospital Reina Sofía, Cordoba, Spain, ⁵Reina Sofia University Hospital, Córdoba, Spain, ⁶Hospital Universitario Reina Sofía, Cordoba, Spain, ⁷Rheumatology Department, Reina Sofia University Hospital/Maimonides Biomedical Research Institute of Cordoba (IMIBIC), Córdoba, Spain, ⁸IMIBIC/Reina Sofia Hospital/University of Cordoba. Rheumatology service. Cordoba. Spain, Cordoba, Spain, ⁹Reina Sofía University Hospital/ Rheumatology Department, Córdoba, Spain, ¹⁰Maimonides Biomedical Research Institute of Cordoba (IMIBIC)/University of Cordoba, Cordoba, Spain, ¹¹University of Cordoba, Córdoba, Spain, ¹²Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹³IMIBIC - Reina Sofia Hospital, Córdoba, Spain
Background/Purpose: Rheumatoid arthritis (RA) is a remarkably heterogeneous autoimmune disease whose clinical outcomes with disease-modifying antirheumatic drugs (DMARDs) remain unpredictable. The aim of this study…
Abstract Number: 0243 • ACR Convergence 2023
Decreased Incidence of Gout After Kidney Transplant over the Last Decade: An Analysis from a Large Academic Renal Transplant Center
Nishah Panchani¹, Angelo Gaffo² and Vineeta Kumar³, ¹Tinsley Harrison Internal Medicine Residency Program, University of Alabama at Birmingham, Arlington, TX, ²Division of Clinical Immunology and Rheumatology, University of Alabama at Birmingham, AL; Birmingham VA Medical Center, Birmingham, AL, ³Division of Nephrology/Transplant, University of Alabama at Birmingham, Birmingham, AL
Background/Purpose: Gout has been associated with high rates of morbidity and mortality in kidney transplant (KT) patients with increased bone destruction and associated cardiovascular and…
Abstract Number: 0948 • ACR Convergence 2023
Nintedanib Alters Fibroblast and Macrophage Diversity in a 3D Skin Model of Systemic Sclerosis (SSc)
Noelle Kosarek¹, Tamar Abel², Sasha Shenk³, Tammara Wood², Jonathan Garlick⁴, Patricia Pioli⁵ and Michael Whitfield⁵, ¹Dartmouth Geisel School of Medicine, Lebanon, NH, ²Dartmouth College, Hanover, NH, ³Tufts University, Boston, MA, ⁴Tufts University School of Dental Medicine, Boston, MA, ⁵Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Systemic Sclerosis (SSc) is a rare autoimmune disease characterized by fibrosis of the skin and internal organs. While the tyrosine kinase inhibitor Nintedanib is…
Abstract Number: 1710 • ACR Convergence 2023
Genetic Associations in Juvenile Idiopathic Arthritis Determined with an Electronic Health Record Based Approach
Elizabeth Jasper, Srushti Gangireddy, Henry Ong, Jacklyn Hellwege, Todd Edwards, Digna Velez Edwards, Wei-Qi Wei and Anna Patrick, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Juvenile idiopathic arthritis (JIA) encompasses multiple forms of pediatric autoimmune arthritis. Research studies in JIA are complicated by disease heterogeneity and difficulties gathering large…
Abstract Number: 2578 • ACR Convergence 2023
Machine Learning Identifies New Sporadic Inclusion Body Myositis Endotypes Associated with Unique Autoantibody Profiles
Jenny Wei¹, Mark Tarnopolsky², Marie Hudson³, Ross Mitchell⁴, Katherine Buhler⁵, Antoine Dufour⁶, Luiz de Almeida⁶, Paul R. Fortin⁷, Eric Boilard⁸, Yann Becker⁸, Erin Hatcher², Mei Feng Zhang⁶, Marvin Fritzler⁶ and May Choi⁶, ¹University of Toronto, Toronto, ON, Canada, ²McMaster University, Hamilton, ON, Canada, ³McGill University, Montréal, QC, Canada, ⁴University of Alberta, Edmonton, AB, Canada, ⁵University of Calgary; Cumming School of Medicine, Calgary, AB, Canada, ⁶University of Calgary, Calgary, AB, Canada, ⁷Centre ARThrite - CHU de Québec - Université Laval, Quebec City, QC, Canada, ⁸Université Laval, Quebec City, QC, Canada
Background/Purpose: Sporadic inclusion body myositis (sIBM) is a subset of autoimmune inflammatory myopathies (AIM) that is often challenging to diagnose. The objective of this study…
Abstract Number: 0383 • ACR Convergence 2023
Identification of Contributing Factors to Difficult-to-Treat Rheumatoid Arthritis (D2T RA) in a Cohort of 972 Patients Using a Natural Language Processing (NLP) Approach
Hugo BERGIER¹, Thibaut Fabacher², Nathanaël Sedmak², Erik Sauleau² and Jacques-Eric Gottenberg³, ¹Hautepierre Hospital, Strasbourg, France, ²Hôpitaux Universitaires de Strasbourg, Strasbourg, France, ³Rheumatology Department, Strasbourg University Hospital, Strasbourg, France
Background/Purpose: Natural Language Processing (NLP), an interdisciplinary field combining artificial intelligence and language science, has gained significant interest in the medical domain for automated collection…

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