Abstracts tagged "Bioinformatics"

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: 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: 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: 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: 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: 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: 0316 • ACR Convergence 2024
Development and Evaluation of the Adult-onset Still’s Disease Activity Index Based on Whole RNA-seq Analysis: A Novel Approach Independent of Tocilizumab Treatment
Mayu Magi¹, Hiroto Yoshida¹, Hiroya Tamai², Kotaro Matsumoto², Keiko Yoshimoto², Yoshihiro Matsumoto¹, Tetsuhiro Soeda¹ and Yuko Kaneko², ¹Chugai Pharmaceutical Co., Ltd., Kanagawa, Japan, ²Keio University School of Medicine, Tokyo, Japan
Background/Purpose: Tocilizumab (TCZ), an anti-IL-6 receptor antibody, has been shown to be effective in the treatment of adult-onset Still's disease (AOSD), a systemic inflammatory disease.…
Abstract Number: 0917 • ACR Convergence 2024
Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Mutations in Familial Mediterranean Fever
Aysima Hacisuleyman¹, Ahmet Gul² and Burak Erman³, ¹Department of Computational Biology, University of Lausanne, Lausanne, Switzerland, ²Division of Rheumatology, Department of Internal Medicine, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, Istanbul, Turkey, ³3Chemical and Biological Engineering, Koc University, Istanbul, Turkey
Background/Purpose: Predicting the pathogenicity of amino acid substitutions is crucial for understanding the functional consequences of genetic variations. Several computational methods frequently used so far…
Abstract Number: 1811 • ACR Convergence 2024
The Immune Map of Lupus Nephritis: A Spatially Resolved Kidney Proteomic Approach
Chen-Yu Lee¹, Matthew Caleb Marlin², Xiaoping Yang¹, Alessandra Ida Celia³, Vasileios Morkotinis⁴, Richard Furie⁵, Jill Buyon⁶, Chaim Putterman⁷, Jennifer Barnas⁸, Kenneth Kalunian⁹, Peter Izmirly¹⁰, Betty Diamond¹¹, Anne Davidson¹², Diane Kamen¹³, Jeff Hodgin¹⁴, the Accelerating Medicines Partnership RA/SLE¹⁵, Judith James², Michelle Petri¹⁶, Joel Guthridge², Avi Rosenberg¹ and Andrea Fava¹, ¹Johns Hopkins UNiversity, Baltimore, MD, ²Oklahoma Medical Research Foundation, Oklahoma City, OK, ³Sapienza University of Rome, Rome, Italy, ⁴University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁵Northwell Health, Manhasset, NY, ⁶NYU Grossman School of Medicine, New York, NY, ⁷Albert Einstein College of Medicine, Safed, Israel, ⁸University of Rochester, Rochester, NY, ⁹University of California San Diego, La Jolla, CA, ¹⁰New York University Grossman School of Medicine, New York, NY, ¹¹The Feinstein Institutes for Medical Research, Manhasset, NY, ¹²Feinstein Institutes for Medical Research, Manhasset, NY, ¹³Medical University of South Carolina, Charleston, SC, ¹⁴University of Michigan, Michigan, ¹⁵multiple, multiple, ¹⁶Johns Hopkins University School of Medicine, Timonium, MD
Background/Purpose: Treatment response rates in lupus nephritis (LN) remain suboptimal, highlighting the need for a better understanding of LN pathogenesis to enhance treatment strategies. Single-cell…
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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