ACR Meeting Abstracts

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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: 0113 • ACR Convergence 2024

    Plasma Proteomics Analysis Identifies Thromboinflammatory Signature Associated with Clinical Antiphospholipid Syndrome: Results from Antiphospholipid Syndrome Alliance for Clinical Trials and International Networking (APS ACTION) Registry

    Alexander Pine1, Vittorio Pengo2, Savino Sciascia3, Nina Kello4, Rosario Lopez Pedrera5, H Michael Belmont6, David Branch7, Laura Andreoli8, Michelle Petri9, Ricard Cervera10, Jason Knight11, Pierluigi Meroni12, Hannah Cohen13, Rohan Willis14, Maria Laura Bertolaccini15, Alfred Lee16, Doruk Erkan17 and Anish Sharda16, 1Yale School of Medicine/VA Connecticut, West Haven, CT, 2Thrombosis Research Laboratory, Department of Cardio-Thoracic-Vascular Sciences and Public Health, University of Padova, Padova, Italy, 3University of Turin, Torino, Turin, Italy, 4Northwell Health, Brooklyn, NY, 5IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, 6NYU School of Medicine, New York, NY, 7University of Utah and Intermountain Healthcare, Salt Lake City, UT, 8University of Brescia, Brescia, Italy, 9Johns Hopkins University School of Medicine, Timonium, MD, 10Hospital Clinic de Barcelona, Barcelona, Spain, 11University of Michigan, Ann Arbor, MI, 12IRCCS Istituto Auxologico Italiano 100%, Cusano Milanino, Milan, Milan, Italy, 13University College London Hospitals NHS Foundation Trust, London, United Kingdom, 14University of Texas Medical Branch, Galveston, TX, 15King's College London, London, United Kingdom, 16Yale School of Medicine, New Haven, CT, 17Hospital for Special Surgery, New York, NY

    Background/Purpose: Antiphospholipid syndrome (APS) is an autoimmune disease with thromboembolic and obstetric morbidity arising via a model of immunothrombosis. Patients may present with thrombotic (tAPS),…
  • Abstract Number: 0889 • ACR Convergence 2024

    Unraveling the Progression of Sjögren’s Disease at the Cellular and Histological Level Using Single-cell and Spatial Transcriptomics

    Tomás Gomes1, Matilde Bandeira2, Rui do Amaral Vieira1, Bianca Correia1, Sofia Barreira3, Pedro Gaspar4, Rita Cruz-Machado5, Beatriz Filipe1, Pedro Ávila-Ribeiro1, Filipa Ribeiro1, Bruno Vidal1, Beatriz Val1, Filipa Costa6, Ana Teodósio Chícharo7, Augusto Silva1, Manuel Silvério-Antonio1, João Forjaz Lacerda1, João Eurico Fonseca1, Dolores López Presa8, Nikita Khmelinskii1, Saumya Kumar9, Luis Graca1 and Vasco C. Romão10, 1Instituto de Medicina Molecular (iMM Lisboa), Lisboa, Portugal, 2Centro Hospitalar Universitario Lisboa Norte, Lisboa, Portugal, 3Unidade Local de Saúde Santa Maria, Serviço de Reumatologia e Doenças Ósseas Metabólicas, Lisboa, Portugal, Lisbon, Portugal, 4Internal Medicine Department, Hospital Santa Maria, Unidade Local de Saúde Santa Maria, Lisbon, Portugal, Povoa de Santa Iria, Portugal, 5Unidade Local de Saúde Santa Maria, Serviço de Reumatologia e Doenças Ósseas Metabólicas, Lisboa, Portugal, Lisboa, Portugal, 6Rheumatology Department, Unidade Local de Saúde de Santa Maria. Rheumatology Research Unit, Instituto de Medicina Molecular João Lobo Antunes, Lisbon, Portugal, 7Unidade Local de Saúde do Algarve, Hospital de Faro, Faro, Portugal, Faro, Portugal, 8Pathology Department, Unidade Local de Saúde de Santa Maria, Lisbon Academic Medical Centre, Lisboa, Portugal, 9TWINCORE, a joint venture between the Helmholtz-Centre for Infection Research (HZI) and the Hannover Medical School (MHH), Hannover, Germany, Hannover, Germany, 10Rheumatology Department, ULS Santa Maria & Rheumatology Research Unit, Instituto Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal

    Background/Purpose: Sjögren’s Disease (SjD) is a systemic autoimmune disease that primarily targets salivary and lacrimal glands, causing tissue deterioration and loss of function. Disease progression…
  • Abstract Number: 1763 • ACR Convergence 2024

    Circulating NK and CD8+ Cytotoxic T Cells in Treatment Naïve JDM Demonstrate Higher Cytotoxic and Interferon Signature as Compared to Childhood-Onset SLE

    Qinmengge Li1, Celine Berthier1, Christine Goudsmit1, Sophia Matossian1, Rachael Wasikowski2, Johann Gudjonsson1, J. Michelle Kahlenberg1, Lam C. Tsoi2 and Jessica Turnier3, 1University of Michigan, Ann Arbor, MI, 2Michigan, Dept. of Dermatology, Ann Arbor, MI, 3University of Michigan, Saline, MI

    Background/Purpose: Juvenile dermatomyositis (JDM) and childhood-onset systemic lupus erythematosus (cSLE) are pediatric autoimmune diseases that can present with overlapping clinical features yet have unique tropism…
  • Abstract Number: 2326 • ACR Convergence 2024

    Development and Evaluation of a Machine Learning Model for the Early Identification of Psoriatic Arthritis

    Michael Dreyfuss1, Dan Riesel2, Guy Shalev2, Benjamin Getz3, Or Ramni2, Yonatan Jenudi4, Dimid Duchovny2, Daniel Underberger5, Shlomit Steinberg-Koch2, Douglas White6 and Elena Myasoedova7, 1Predicta Med, Ramat Gan, Israel, 2Predicta Med Analytics Ltd., Ramat Gan, Israel, 3CTO, Ramat Gan, Israel, 4[email protected], Ramat Gan, Israel, 5Predicta Med Analytics Ltd., Bridgeport, CT, 6Gundersen Health System, Onalaska, WI, 7Mayo Clinic, Rochester, MN

    Background/Purpose: Delays in diagnosis of psoriatic arthritis (PsA) are associated with indolent and non-specific signs and symptoms, and often result in physical impairment and poorer…
  • Abstract Number: 0125 • ACR Convergence 2024

    Electronic Health Record Rule-Based Computable Phenotype of Antiphospholipid Syndrome

    Emily Balczewski1, Amala Ambati2, Wenying Liang1, Jacqueline Madison1, Yu Zuo1, Karandeep Singh3 and Jason Knight1, 1University of Michigan, Ann Arbor, MI, 2University of Michigan, Toledo, OH, 3University of California -- San Diego, San Diego, CA

    Background/Purpose: Electronic health record (EHR) data provide a widely available, inexpensive, and information-rich tool that is underutilized in the research of rare diseases like antiphospholipid…
  • Abstract Number: 0893 • ACR Convergence 2024

    Uncovering Common and Distinctive Molecular Profiles Between Early and Stablished Rheumatoid Arthritis Through Integrative Multi-omics Analysis and Its Association with Disease Status and Clinical Response

    Ismael Sánchez Pareja1, Carlos Perez-Sanchez1, Dani Toro-Domínguez2, Laura Muñoz-Barrera1, Tomás Cerdó1, Elena Moreno-Caño3, Rafaela Ortega-Castro4, Jerusalem Calvo Gutierrez5, María Lourdes Ladehesa-Pineda6, Concepción Aranda-Valera3, María Carmen Ábalos-Aguilera7, Christian Merlo-Ruiz7, Mª Angeles Aguirre-Zamorano8, Nuria Barbarroja1, Marta Alarcon-Riquelme9, Alejandro Escudero-Contreras1 and Chary Lopez-Pedrera6, 1IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, 2Fundación Progreso y Salud, Andalusian Government, Granada, 3IMIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Andalucia, Spain, 4Hospital Reina Sofía, Cordoba, Andalucia, Spain, 5HU Reina Sofia, Cordoba, Spain, 6IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Andalucia, Spain, 7IMIBIC/Reina Sofia Hospital/University of Cordoba, CÓRDOBA, Spain, 8IMIBIC/Reina Sofia Hospital/University of Cordoba, CÓRDOBA, Andalucia, Spain, 9Fundación Progreso y Salud, Andalusian Government, Granada, Spain

    Background/Purpose: Characterize the molecular landscape of RA patients using a multi-omic approach encompassing transcriptomics and proteomics and assess its association with disease stage and therapeutic…
  • Abstract Number: 1769 • ACR Convergence 2024

    Top Peripheral Blood Transcriptomic Gene Modules Reveal Functional Annotation and Correlation with Clinical Traits in Juvenile Dermatomyositis (JDM) and Myositis-Specific Autoantibody (MSA) Groups

    Ujana Zajmi1, Megan Darrell1, Amy Kaneshiro1, Adeline Chin1, Adriana Jesus2, Stephen Brooks1, Raphaela Goldbach-Mansky2, Lisa Rider3 and Hanna Kim4, 1NIH/NIAMS, Bethesda, MD, 2NIH/NIAD, Bethesda, MD, 3NIEHS, NIH, Garrett Park, MD, 4National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD

    Background/Purpose: Myositis-specific autoantibody (MSA) subgroups define phenotypes associated with specific clinical traits and outcomes within JDM, a clinically heterogeneous autoimmune disease. The pathogenesis of JDM…
  • Abstract Number: 2534 • ACR Convergence 2024

    Deciphering Complement-dependent Macrophage Phenotypes in Human Rheumatoid Arthritis Using Combined Computational-experimental Single-cell Omics

    Juan Vargas1, Ian Mantel2, Jun Inamo3, Nirmal Banda1, Anna Helena Jonsson3, Kevin Wei4, Deepak Rao5, Susan Goodman6, Kevin Deane7, Jennifer Seifert8, Jennifer Anolik9, Michael Brenner10, Soumya Raychaudhuri11, Trent Woodruff12, the Accelerating Medicines Partnership (AMP) RA/SLE Network13, Michael Holers14, Laura Donlin15 and Fan Zhang16, 1The University of Colorado, Aurora, CO, 2WEILL CORNELL MEDICINE, New York, NY, 3University of Colorado School of Medicine, Aurora, CO, 4Brigham and Women's Hospital at Harvard Medical School, Boston, MA, 5Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 6Hospital for Special Surgery, New York 10025, NY, 7University of Colorado Denver Anschutz Medical Campus, Aurora, CO, 8University of Colorado and Oklahoma Medical Research Foundation, Aurora, CO, 9University of Rochester Medical Center, Rochester, NY, 10Brigham Women's Hospital, Boston, MA, 11Brigham and Women's Hospital, Boston, MA, 12University of Queensland, Brisbane, Australia, 13AMP RA/SLE consortium, Aurora, CO, 14Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, 15Hospital for Special Surgery, New York, NY, 16University of Colorado, Aurora, CO

    Background/Purpose: The complement system is a major component of innate immunity and plays a vital role in experimental models of autoimmune disease pathogenesis. In patients…
  • Abstract Number: 0126 • ACR Convergence 2024

    Underdiagnosis Prediction Fingerprint for Antiphospholipid Syndrome Derived from Electronic Health Record Data

    Emily Balczewski1, Amala Ambati2, Wenying Liang1, Jacqueline Madison1, Yu Zuo1, Karandeep Singh3 and Jason Knight1, 1University of Michigan, Ann Arbor, MI, 2University of Michigan, Toledo, OH, 3University of California -- San Diego, San Diego, CA

    Background/Purpose: Antiphospholipid syndrome (APS) is a rare autoimmune disease that is likely to demonstrate improved outcomes with earlier diagnosis and treatment. However, given APS’s complex,…
  • 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: 2536 • ACR Convergence 2024

    Trans-Disease Microbial Biomarkers of Protection and Pathogenesis in Autoimmune Conditions: Results from the AMP AIM Consortium

    Kevin Bu1, Rebecca Blank2, Adam Cantor1, Alba Boix-Amoros3, Jose Scher4 and Jose Clemente1, and Accelerating Medicines Partnership and Immune-Mediated Diseases Network (AMP AIM), 1Icahn School of Medicine at Mount Sinai, New York, NY, 2NYU, New York, NY, 3Icahn School of Medicine, New York, NY, 4New York University School of Medicine, New York, NY

    Background/Purpose: Autoimmune and immune-mediated diseases (AIMDs) affect over 20 million Americans. Although AIMDs have distinct symptomatology, there is significant overlap in their treatment, suggesting overlap…
  • 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…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

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