Abstracts tagged "Bioinformatics"

Abstract Number: L11 • ACR Convergence 2024
Rheumatology Diagnostics Utilizing Artificial Intelligence (ANA Reader©) for ANA Pattern Identification and Titer Quantification
May Choi¹, Farbod Moghaddam¹, Mohammad Sajadi¹, Ann E. Clarke¹, Sasha Bernatsky², Karen Costenbader³, Irene Chen⁴, Murray Urowitz⁵, John Hanly⁶, Caroline Gordon⁷, Sang-Cheol Bae⁸, Juanita Romero-Diaz⁹, Jorge Sanchez-Guerrero¹⁰, Daniel Wallace¹¹, David Isenberg¹², Anisur Rahman¹³, Joan Merrill¹⁴, Paul Fortin¹⁵, Dafna Gladman¹⁶, Ian Bruce¹⁷, Michelle Petri¹⁸, Ellen Ginzler¹⁹, Mary Anne Dooley²⁰, Rosalind Ramsey-Goldman²¹, Susan Manzi²², Andreas Jönsen²³, Graciela Alarcón²⁴, Ronald Van Vollenhoven²⁵, Cynthia Aranow²⁶, Meggan Mackay²⁶, Guillermo Ruiz-Irastorza²⁷, S. Sam Lim²⁸, Murat Inanç²⁹, Kenneth Kalunian³⁰, Soren Jacobsen³¹, Christine Peschken³², Diane Kamen³³, Anca Askanase³⁴, Marvin Fritzler³⁵ and Mina Aminghafari¹, ¹University of Calgary, Calgary, AB, Canada, ²Research Institute of the McGill University Health Centre, Montreal, QC, Canada, ³Brigham and Women's Hospital/Harvard Medical School, Boston, MA, ⁴UC Berkeley and UCSF, Berkeley, CA, ⁵Self employed, Toronto, ON, Canada, ⁶Dalhousie University, Halifax, NS, Canada, ⁷University of Birmingham, Birmingham, United Kingdom, ⁸Hanyang University Medical Center, Seoul, South Korea, ⁹The National Institute of Medical Sciences and Nutrition, Mexico City, Mexico, ¹⁰Krembil Research Institute, Toronto, ON, Canada, ¹¹Cedars Sinai Medical Center, Studio City, CA, ¹²Department of Ageing, Rheumatology and Regenerative Medicine, Division of Medicine, University College London, London, United Kingdom, ¹³University College London, London, United Kingdom, ¹⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ¹⁵Centre ARThrite - CHU de Québec - UniversitéLaval, Quebec, QC, Canada, ¹⁶University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ¹⁷Queen's University Belfast, Belfast, United Kingdom, ¹⁸Johns Hopkins University School of Medicine, Baltimore, MD, ¹⁹SUNY Downstate Health Sciences University, New York, NY, ²⁰UNC physician network, Chapel Hill, NC, ²¹Northwestern University, Chicago, IL, ²²Allegheny Health Network, Pittsburgh, PA, ²³Lund University, Lund, Sweden, ²⁴The University of Alabama at Birmingham, Oakland, CA, ²⁵Amsterdam UMC, Amsterdam, Netherlands, ²⁶Feinstein Institutes for Medical Research, New York, NY, ²⁷Biobizkaia Health Research Institute, Bilbao, Spain, ²⁸Emory University, Atlanta, GA, ²⁹Istanbul University, Istanbul, Turkey, ³⁰UC San Diego, La Jolla, CA, ³¹Rigshospitalet, Copenhagen, Denmark, ³²University of Manitoba, Winnipeg, MB, Canada, ³³Medical University of South Carolina, Johns Island, SC, ³⁴Columbia University Medical Center, New York, NY, ³⁵Mitogen Diagnostics Corp, Calgary, AB, Canada
Background/Purpose: Antinuclear antibody (ANA) immunofluorescence (IFA) patterns and titers are a key part of rheumatology diagnostics, however, there is considerable intra- and inter-laboratory variability with…
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…
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…

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