Abstracts tagged "Bioinformatics"

Abstract Number: 0897 • ACR Convergence 2024
Dynamic eQTLs from Activated Human B Cells Suggest Cell-state Dependent Effects for GWAS Risk Variants in BLK
Yao Fu, David Murphy, Richard Pelikan, Jeniffer Kelly, Kiely Grundahl, Satish Pasula, Kandice Tessneer and Patrick Gaffney, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex genetic disease in which B cells play a critical role in pathogenesis. Previous genome-wide association studies (GWAS)…
Abstract Number: 1779 • ACR Convergence 2024
Single-Nuclear RNA-Sequencing of Treatment Naïve JDM Muscle Highlights Dysregulated Vascular Integrity and Angiogenesis in Endothelial Cells and Decreased Nitric Oxide Synthase Signaling in Type II Muscle Fibers
Jessica Turnier¹, Chioma Madubata², Christine Goudsmit³, Sean Ferris³, Celine Berthier³, Zilan Zheng⁴, Sophia Matossian³, Jeff Dvergsten⁵, Meredyth Wilkinson⁶, Lucy R Wedderburn⁷, Gabrielle Morgan⁸, Lauren Pachman⁹, Claudia Lalancette³, Stephen Parker³, Andrew Heaton¹⁰, J. Michelle Kahlenberg³, Gabriela K Fragiadakis² and Jessica Neely⁴, ¹University of Michigan, Saline, MI, ²University of California, San Francisco, San Francisco, CA, ³University of Michigan, Ann Arbor, MI, ⁴UCSF, San Francisco, CA, ⁵Duke University Hospital, Hillsborough, NC, ⁶Great Ormond Street Institute of Child Health, London, United Kingdom, ⁷UCL GOS Institute of Child Health, London, United Kingdom, ⁸Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, IL, ⁹Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ¹⁰Cure JM, Leesburg, VA
Background/Purpose: Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children, and it frequently follows a chronic disease course. Treatments are limited secondary…
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: 0127 • ACR Convergence 2024
Unsupervised Machine Learning Improves Clinical Stratification and Prognostic Evaluation for Antiphospholipid Syndrome: A Large Cohort Study from China
Chen Chen¹, Ao Zhang², Jianhui Cheng³, Zhongqiang Yao⁴, Juan Meng⁵, Yilu Qin⁶, Qingyi Lu¹, Yufei Li¹, Xiangjun Liu¹, Tianhao Li⁷, Chao Hou⁷, Yundi Tang¹, Hongjiang Liu⁸, Ning Xu¹, Sai Dong¹, Xinxin Li³, Fangmin Xu², Jianping Guo¹ and Chun Li¹, ¹Peking University People's Hospital, Beijing, China, ²Beijing University of Posts and Telecommunications, Beijing, China, ³State Key Laboratory of Neurology and Oncology Drug Development, Nanjing, China (People's Republic), ⁴Peking University Third Hospital, Beijing, China, ⁵Beijing Chaoyang Hospital Affiliated to Capital Medical University, Beijing, China, ⁶Affiliated Xinxiang Central Hospital of Xinxiang Medical University, Xinxiang, China (People's Republic), ⁷Peking University Health Science Center, Beijing, China, ⁸West China Hospital, Sichuan University, Chengdu, China (People's Republic)
Background/Purpose: Antiphospholipid syndrome (APS) is a complex disease characterized by the presence of anti-phospholipid antibodies (aPLs). Its significant clinical heterogeneity brings clinical and therapeutical challenges.…
Abstract Number: 0898 • ACR Convergence 2024
A Blood Transcriptome Signature Distinguishes Between Diverse Systemic Autoimmune Diseases and Infection
Kleio-Maria Verrou¹, Argyrios Theophilopoulos², Nikolaos Vlachogiannis³, George Kollias⁴, Christoforos Nikolaou⁵ and Petros Sfikakis¹, ¹Joint Academic Rheumatology Program, School of Medicine, National and Kapodistrian University of Athens. Centre of New Biotechnologies and Precision Medicine (CNBPM), School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, Athens, Greece, ²Department of Immunology, Scripps Clinic and Research Foundation, San Diego, CA, ³Joint Academic Rheumatology Program, School of Medicine, National and Kapodistrian University of Athens. Centre of New Biotechnologies and Precision Medicine (CNBPM), School of Medicine, National and Kapodistrian University of Athens, Athens, Greece, Zografou, Greece, ⁴Centre of New Biotechnologies and Precision Medicine (CNBPM), School of Medicine, National and Kapodistrian University of Athens, Athens, Greece. Institute for Bioinnovation, Biomedical Sciences Research Center “Alexander Fleming”, Vari, Greece. Department of Physiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece, Athens, Greece, ⁵Institute for Bioinnovation, Biomedical Sciences Research Center “Alexander Fleming”, Athens, Greece
Background/Purpose: The most pathogenic responses against self and foreign antigens that lead to systemic autoimmune diseases and infections, respectively, overall engage similar immunologic components. Consequently, there are…
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: 2629 • ACR Convergence 2024
Deciphering Salivary Gland Inflammation in Sjögren’s Syndrome Reveals Shared and Autoantibody-Specific Immune Cell Heterogeneity
Jun Inamo¹, Masaru Takeshita², Katsuya Suzuki², Kazuyuki Tsunoda², Satoshi Usuda², Junko Kuramoto², Tsutomu Takeuchi³ and Yuko Kaneko⁴, ¹University of Colorado School of Medicine, Aurora, CO, ²Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan, ³Department of Internal Medicine, Keio University, Tokyo, Tokyo, Japan, ⁴Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Tokyo, JP, Shinjuku-ku, Tokyo, Japan
Background/Purpose: Sjögren's syndrome (SS) is an autoimmune disease characterized by progressive immune cell-mediated destruction of the exocrine glands. SS patients have distinct clinical phenotypes based…
Abstract Number: 0158 • ACR Convergence 2024
Rheumatoid Arthritis Testing Patterns by Physicians and Advanced Practice Providers from a National Commercial Laboratory, 2014 – 2023
Karis Lee¹, Min Kyung Lee², David Alfego³, Kristen Clark⁴ and Stanley Naides⁵, ¹Labcorp, Orlando, FL, ²Labcorp, San Diego, CA, ³Labcorp, Carlsbad, CA, ⁴Labcorp, Raleigh, NC, ⁵Labcorp, Dana Point, CA
Background/Purpose: With the commercialization of new diagnostic and monitoring tests for rheumatoid arthritis (RA) and an increasing number of advanced practice providers (APPs) in the…
Abstract Number: 0900 • ACR Convergence 2024
Association Between Serum Urate, Gout, and Prostatic Cancer in European Male Populations: A Mendelian Randomization Study
Sumanth Chandrupatla¹, Nicholas Sumpter¹, Tony Merriman² and Jasvinder Singh³, ¹University of Alabama at Birmingham, Birmingham, AL, ²University of Alabama at Birmingham, Homewood, AL, ³Baylor College of Medicine, Birmingham, AL
Background/Purpose: Gout and serum urate (SU) are associated with prostate cancer risk. Previous Mendelian randomization (MR) studies have shown mixed results on the causal relationship…
Abstract Number: 1789 • ACR Convergence 2024
Multi-omic Profiling Identifies Pathogenic Pro-inflammatory Human Monocytes/Macrophages in Systemic Lupus Erythematosus
Lais Osmani¹, Min Shin², Sang Jin Lee³, Helen Cai⁴, Won Jae Seong², Hyoungsu Kim², Jongjin Yoo², Angela Mirabella², William Bracamonte², Mario Felix⁵, Jong Gyun Ahn², Hong-Jai Park², Juan Young⁶, Junghee Shin², Serhan Unlu⁷, Noelle Yoo², Edward Doherty², Jiaye Chen², Chenxi Li², Gabriela Sanchez-Zuno², Caroline Valdez⁴, Thuy Tran⁸, Mei Dong², Sang Kim², Christine Ko⁹, Sungyong You¹⁰, Jose Gomez¹¹, Richard Bucala¹² and Insoo Kang², ¹Yale, New Haven, CT, ²Yale University School of Medicine, Internal Medicine (Rheumatology, Allergy & Immunology), New Haven, CT, ³Division of Rheumatology, Kyungpook National University Hospital, Dae gu, Republic of Korea, ⁴Yale University School of Medicine, New Haven, CT, ⁵Yale, Hamden, CT, ⁶Yale University School of Medicine, Psychiatry, New Haven, CT, ⁷Cleveland Clinic, Internal Medicine, Cleveland, OH, ⁸Yale University School of Medicine, Internal Medicine (Medical Oncology), New Haven, CT, ⁹Yale University School of Medicine, Dermatology and Pathology, New Haven, CT, ¹⁰Cedars-Sinai Medical Center, Surgery and Computational Biomedicine, Los Angeles, CA, ¹¹Yale University School of Medicine, Internal Medicine (Pulmonary, Critical Care & Sleep), New Haven, CT, ¹²Yale University School of Medicine, Internal Medicine (Rheumatology, Allergy & Immunology) and Pathology, New Haven, CT
Background/Purpose: Systemic lupus erythematosus (SLE or lupus) is a clinically heterogeneous autoimmune disease, in which emerging evidence implicates the innate immune system, particularly monocytes and…
Abstract Number: 2630 • ACR Convergence 2024
Identification of Molecular Biomarkers for Sjögren’s Disease Stratification via a Deep Learning Foundation Model Dedicated to Immune-Mediated and Inflammatory Disease
Aygalic Jara-Mikolajczak¹, Zachary Abessera¹, Martin Rethoret-Pasty¹, Elisa Mazuir¹, Apolline Bruley¹, Wan Fai Ng², Marta Alarcon-Riquelme³, Michele Bombardieri⁴, Simon Bowman⁵, Elena Pontarini⁶, Jacques-Eric Gottenberg⁷, Xavier Mariette⁸, Laurence LAIGLE⁹, Julien Duquesne¹, Philippe Moigeon¹⁰ and Vincent Bouget¹¹, and NECESSITY Consortium, ¹Scienta Lab, Paris, France, ²Department of Rheumatology, Newcastle University, & HRB Clinical Research Facility, University College Cork, Newcastle upon Tyne, United Kingdom, ³Fundación Progreso y Salud, Andalusian Government, Granada, Spain, ⁴Centre for Experimental Medicine and Rheumatology, The William Harvey Research Institute, Queen Mary University of London, London, United Kingdom, ⁵Department of Rheumatology, University Hospital Birmingham, Birmingham, United Kingdom, ⁶William Harvey Research Institute, London, United Kingdom, ⁷Rheumatology Department, Strasbourg University Hospital,, Strasbourg, France, ⁸Service de Rhumatologie, Hôpital Bicêtre, AP-HP, Le Kremlin Bicetre, France, ⁹Servier Laboratories, France, SURESNES, France, ¹⁰Servier Laboratories, France, Gif sur Yvette, France, ¹¹Scienta Lab, Gif-sur-Yvette, France
Background/Purpose: Sjögren’s Disease (SjD) exhibits heterogeneity in clinical manifestations and underlying biology. This heterogeneity complicates drug development, with no targeted therapy approved to date. Identifying…
Abstract Number: 0209 • ACR Convergence 2024
Characteristics of Ordering Providers and Patients with Positive Antinuclear Antibodies: A Pragmatic, Risk Model Study
Emily Grace, Sarah Green, Nikol Nikolova, Ashley Suh, Ryan Moore, Hank Domenico, Allison McCoy and April Barnado, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Positive antinuclear antibodies (ANAs) cause diagnostic dilemmas for clinicians across specialties. We previously developed and validated a risk model to predict risk of developing…
Abstract Number: 0902 • ACR Convergence 2024
Novel Role of TYK2mechanism in SLE Pathogenesis via T Cell and B Cell Pathways
Joshua Hoffman¹, Nicole Narayan² and Mera Tilley¹, ¹Alumis Inc, South San Francisco, CA, ²Alumis, South San Francisco, CA
Background/Purpose: SLE is a complex disease in need of novel therapies. Previously reported genome-wide association studies (GWAS) have identified a strong association between SLE and…
Abstract Number: 1791 • ACR Convergence 2024
A Transcriptomic Lupus Activity Signature Associates with Cardiovascular Function
Matthew Muller¹, Elliot Luttrell-Williams¹, Haley Rosmann², Kelly Ruggles³, Jill Buyon⁴ and Jeffrey Berger¹, ¹NYU Langone, New York City, NY, ²NYU Grossman School of Medicine, New York, NY, ³NYU Grossman School of Medicine, Brooklyn, NY, ⁴New York University Grossman School of Medicine, New York, NY
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a complex autoimmune disorder associated with increased cardiovascular risk. Platelet activity is increased in SLE and may mediate, in…
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…

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