Abstracts tagged "Bioinformatics"

Abstract Number: 1161 • ACR Convergence 2023
Proteasome Inhibitor Repurposed for Dermatomyositis: Results of a Drug Repurposing Analysis Based on the Transcriptomic Signature of Patients’ Perifascicular Fibers Validated in Pre-clinical Models
Léa Debrut¹, Margherita Giannini², Céline Keime¹, Daniela Rovito¹, Béatrice Lannes³, Anne-Laure Charles⁴, Daniel Metzger¹, Bernard Geny⁵, Gilles Laverny¹ and Alain Meyer⁶, ¹Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France, ²Nouvel Hopital Civil, Strasbourg, Strasbourg, France, ³Hôpital de Hautepierre - Hôpitaux Universitaires de Strasbourg, Strasbourg, France, ⁴UR3072, Centre de Recherche en Biomédecine de Strasbourg (CRBS), Strasbourg, France, ⁵Nouvel Hôpital Civil, Strasbourg, France, ⁶Hôpitaux Universitaires de Strasbourg, Strasbourg, France
Background/Purpose: Dermatomyositis (DM) is an autoimmune myopathy responsible for muscle weakness associated with decreased quality of life and increased mortality. DM muscular histology is characterized…
Abstract Number: 1759 • ACR Convergence 2023
Runx1 Is a Key Transcription Factor That Drives Synovial Fibroblast Pathogenicity in Rheumatoid Arthritis
Christopher Mahony¹, Samuel Kemble², Paulynn Chin¹, Cesar Prada³, Annie Hackland¹, Patricia Reis-Nisa¹, Lucy-Jayne Marsh¹, Peter Keane¹, Constanze Bonifer¹, Christopher Buckley⁴, Stevephen Sansom⁵, Mark Coles⁴ and Adam Croft¹, ¹University of Birmingham, Birmingham, United Kingdom, ²University Birmingham, Rugeley, United Kingdom, ³The Kennedy Institute, Oxford, United Kingdom, ⁴University of Oxford, Oxford, United Kingdom, ⁵Kennedy Institute of Rheumatology, Oxford, United Kingdom
Background/Purpose: Fibroblasts are key effector cells in rheumatoid arthritis (RA) underpinning joint inflammation and damage. Synovial tissue fibroblasts are heterogenous and acquire pathogenic cell states…
Abstract Number: 0021 • ACR Convergence 2023
Shared Genetic Susceptibility Between Rheumatoid Arthritis and Bipolar Disorder: Analyses from Genome-Wide Association Studies
Jiayi Zheng¹, Ruoning Ni², Nevena Barjaktarovic³ and Yiming Luo⁴, ¹The Wright Center for Graduate Medical Education, Scranton, PA, ²University of Iowa Hospitals and Clinics, Coralville, IA, ³The Wright Center for Community Health, South Abington Township, PA, ⁴Division of Rheumatology, Department of Medicine, Columbia University Irving Medical Center, New York, NY
Background/Purpose: Rheumatoid arthritis (RA) has been associated with bipolar disorder (BD) in epidemiological studies, including a recent Mendelian randomization analysis. This study aims to prioritize…
Abstract Number: 0574 • ACR Convergence 2023
Type I IFN-associated Regulation of Immune Checkpoint Genes in Patients with SLE
Kanwal Zahid Siddiqi¹, Amanda Hempel Zinglersen², Katrine Kjær Iversen¹ and Søren Jacobsen², ¹Copenhagen Research Center for Autoimmune Connective Tissue Diseases (COPEACT), Department of Rheumatology 4242, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark, ²Copenhagen Research Center for Autoimmune Connective Tissue Diseases, Center for Rheumatology and Spine Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
Background/Purpose: Aberrant activation of type I IFN, and subsequent adverse clinical implications, have been widely discussed in relation to SLE. With the lack of consistent…
Abstract Number: 1366 • ACR Convergence 2023
A Unique Cluster of Inflammatory Monocytes and Functionally Intact Regulatory T Cells in Rare Childhood Sjögren’s Disease
Myung-Chul Kim¹, Umasankar De², Nicholas Borcherding³, Joon Paek⁴, Nicole Winn⁵, Indraneel Bhattacharyya⁶, Qing Yu⁷, Ryan Kolb⁸, Theodore Drashansky⁹, Akaluck Thatayatikom¹⁰, Weizhou Zhang⁸ and Seunghee Cha¹¹, ¹Jeju National University, Jeju-si, South Korea, ²University of Florida, Gainesville, FL, ³Washington University School of Medicine in St. Louis, Washington, DC, ⁴Department of Oral & Maxillofacial Diagnostic Sciences, Gainesville, FL, ⁵Division of Oral Medicine, Department of Oral and Maxillofacial Diagnostic Sciences, University of Florida College of Dentistry, Gainesville, FL, ⁶Department of Oral & Maxillofacial Diagnostic Sciences, University of Florida College of Dentistry, Gainesville, FL, ⁷The Forsyth Institute, Cambridge, MA, ⁸Department of Pathology & Immunology, University of Florida, Gainesville, FL, ⁹Cellularity, Inc, Florham Park, NJ, ¹⁰AdventHealth for Children, Orlando, FL, Orlando, FL, ¹¹Department of Oral & Maxillofacial Diagnostic Sciences, University of Florida College of Dentistry and Center for Orphaned Autoimmune Disorders (COAD), Gainesville, FL
Background/Purpose: This study was performed to characterize key immune cell subsets and their interactions in patients with childhood Sjögren's disease (cSjD) for the first time…
Abstract Number: 1843 • ACR Convergence 2023
Detection of Clinically Relevant Subgroups in Patients Undergoing Knee Replacement Using Machine Learning
Brooke McGinley¹, Gabriela Rabasa¹, Jean Liew¹, Tuhina Neogi², David Felson¹ and Michael LaValley³, ¹Boston University, Boston, MA, ²Boston University School of Medicine, Boston, MA, ³Boston University School of Public Health, Arlington, MA
Background/Purpose: In the US the lifetime risk for Knee Replacement surgery (KR) is 7% for men and 9.5% for women, and this accounts for substantial…
Abstract Number: 0022 • ACR Convergence 2023
Validation of a Transcriptomic-Based Machine Learning Model to Establish the Endotype of SLE Patients
Erika Hubbard¹, Prathyusha Bachali², Kathryn Kingsmore Allison¹, Amrie Grammer¹ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²AMPEL BioSolutions, Redmond, WA
Background/Purpose: We previously developed a novel machine learning (ML) pipeline leveraging analysis of gene expression data to identify subsets of SLE patients with common molecular…
Abstract Number: 0622 • ACR Convergence 2023
The Effectiveness of Breath-holding Test to Predict Pulmonary Function in Systemic Sclerosis Patients Using Machine Learning Model
Jina Yeo¹, Min Hyuk Lim², Ju Yeon Kim³, Ji In Jung⁴, Saram Lee² and Eun Bong Lee³, ¹Division of Rheumatology, Department of Internal Medicine, Gachon University Gil Medical Center, Incheon, South Korea, ²Department of Transdisciplinary Medicine, Seoul National University Hospital, Seoul, South Korea, ³Seoul National University Hospital, Seoul, South Korea, ⁴Division of Rheumatology, Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea
Background/Purpose: Pulmonary involvement is major causes of mortality in patients with systemic sclerosis (SSc). The breath-holding test (BHT), rapid bedside test, is a useful surrogate…
Abstract Number: 1598 • ACR Convergence 2023
Single-cell Spatial Proteomics Identifies Intraglomerular Myeloid Cells in Membranous Lupus Nephritis
Chen-Yu Lee¹, Caleb Marlin², Xiaoping Yang¹, Tayte Stephens², Alessandra Ida Celia³, Jeff Hodgin⁴, Peter Izmirly⁵, H Michael Belmont⁶, Jill Buyon⁷, Chaim Putterman⁸, Judith James², the Accelerating Medicines Partnership in RA/SLE⁹, Michelle Petri¹⁰, Joel Guthridge², Avi Rosenberg¹¹ and Andrea Fava¹, ¹Johns Hopkins University, Baltimore, MD, ²Oklahoma Medical Research Foundation, Oklahoma City, OK, ³John Hopkins University of Medicine, Rome, Italy, ⁴University of Michigan, Ann Arbor, MI, ⁵New York University School of Medicine, New York, NY, ⁶NYU School of Medicine, New York, NY, ⁷NYU Grossman School of Medicine, New York, NY, ⁸Albert Einstein College of Medicine, Bronx, NY, ⁹Multiple, Multiple, ¹⁰Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Timonium, MD, ¹¹Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: Lupus nephritis (LN) leads to end-stage kidney disease (ESKD) in more than 20% of patients despite optimal treatment. Up to 30% of LN patients…
Abstract Number: 1845 • ACR Convergence 2023
Development of a Scoring System for Accurate Lupus Nephritis Case Identification in Real-World Databases
Zara Izadi¹, Alfredo Aguirre¹, Christine Anastasiou¹, Julia Kay¹, Gabriela Schmajuk² and Jinoos Yazdany³, ¹University of California San Francisco, San Francisco, CA, ²UCSF / SFVA, San Francisco, CA, ³University of California, General Department of Medicine, Division of Rheumatology, San Francisco, CA
Background/Purpose: Accurate identification of prevalent cases of lupus nephritis (LN) is essential for timely patient monitoring and treatment, advancing research, and informing public health initiatives…
Abstract Number: 0024 • ACR Convergence 2023
Detection of Synovial Signatures in Peripheral Blood of Patients with Rheumatoid Arthritis via a Novel Blood-Based DNA Capture Assay
Peter C. Taylor¹, Jenya Antonova², Jennifer Geis³, Katharine Dilger³, David Chernoff⁴, Diana Abdueva³, Nancy Shadick⁵ and Michael Weinblatt⁶, ¹Nuffield Department of Orthopedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, United Kingdom, ²Compass Strategy and Research, Inc., San Francisco, CA, ³Aqtual Inc., Hayward, CA, ⁴Chernoff Consulting, Sausalito, CA, ⁵Brigham and Women's Hospital, Boston, MA, ⁶Harvard Medical School, Waban, MA
Background/Purpose: In rheumatoid arthritis [RA], synovial biopsies were shown to guide therapy selection1. However, biopsies require special training for clinicians and are semi-invasive for patients.…
Abstract Number: 0734 • ACR Convergence 2023
Immune Isoform Atlas: Landscape of Alternative Splicing in Human Immune Cells and Involvement of Dysregulated Alternative Splicing in Autoimmune Diseases
Jun Inamo¹, Akari Suzuki², Mahoko Takahashi Ueda¹, Kensuke Yamaguchi¹, Hiroshi Nishida³, Katsuya Suzuki⁴, Yuko Kaneko⁵, Tsutomu Takeuchi⁶, Hiroaki Hatano⁷, Kazuyoshi Ishigaki⁸, Yasushi Ishihama³, Kazuhiko Yamamoto⁹ and Yuta Kochi¹, ¹Tokyo Medical and Dental University, Tokyo, Japan, ²RIKEN Center for Integrative Medical Science, Kanagawa, Japan, ³Kyoto University, Kyoto, Japan, ⁴Keio University, Shinjuku, Japan, ⁵Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Tokyo, Japan, ⁶Keio University School of Medicine and Saitama Medical University, Tokyo, Japan, ⁷Laboratory for Human Immunogenetics, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan, ⁸RIKEN, Tokyo, Japan, ⁹Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo and Laboratory for Autoimmune Diseases, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan
Background/Purpose: Alternative splicing events play a critical role in the immune system1,2 and one of major causal mechanisms for complex traits including immune-mediated diseases (IMDs),…
Abstract Number: 1600 • ACR Convergence 2023
Transcriptomic Characterization of Class II Lupus Nephritis and Outcomes
Jasmine Shwetar¹, Katie Preisinger¹, Devyn Zaminski², Philip Carlucci¹, Kristina Deonaraine¹, Qian Xiao³, Joseph Mears⁴, Siddarth Gurajala³, Izmirly peter⁵, Judith James⁶, Joel Guthridge⁶, Andrea Fava⁷, Brad Rovin⁸, Wade DeJager⁶, Ming Wu⁹, Deepak Rao¹⁰, Chaim Putterman¹¹, Betty Diamond¹², Derek Fine¹³, Jose Monroy-Trujillo¹³, Kristin Haag¹⁴, H Michael Belmont², William Apruzzese¹⁰, Anne Davidson¹², Fernanda Payan-Schober¹⁵, Richard Furie¹⁶, Paul Hoover¹⁰, Celine Berthier¹⁷, Maria Dall'Era¹⁸, Kerry Cho¹⁹, Diane L. Kamen²⁰, Kenneth Kalunian²¹, Jennifer Anolik²², Soumya Raychaudhuri¹⁰, Nir Hacohen²³, Michelle Petri²⁴, Robert Clancy²⁵, David Wofsy¹⁸, Arnon Arazi²⁶, Kelly Ruggles⁹, Jill Buyon²⁵ and The Accelerating Medicines Partnership SLE/RA²⁷, ¹New York University School of Medicine, New York, NY, ²NYU School of Medicine, New York, NY, ³Harvard Medical School, Boston, MA, ⁴Michigan University, Ann Arbor, MI, ⁵NYU, New York, NY, ⁶Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁷Johns Hopkins University, Baltimore, MD, ⁸Ohio State University, Columbus, OH, ⁹NYU Langone, New York, NY, ¹⁰Brigham and Women's Hospital, Boston, MA, ¹¹Albert Einstein College of Medicine, Bronx, NY, ¹²Feinstein Institutes for Medical Research, Manhasset, NY, ¹³Johns Hopkins School of Medicine, Baltimore, MD, ¹⁴Thomas Jefferson University, Philadelphia, PA, ¹⁵Texas Tech University Health Sciences Center, El Paso, TX, ¹⁶Northwell Health, Manhasset, NY, ¹⁷University of Michigan, Ann Arbor, MI, ¹⁸University of California San Francisco, San Francisco, CA, ¹⁹UCSF Health, San Francisco, CA, ²⁰Medical University of South Carolina, Charleston, SC, ²¹University of California San Diego, La Jolla, CA, ²²University of Rochester Medical Center, Rochester, NY, ²³Broad Institute of MIT and Harvard, Cambridge, MA, ²⁴Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Timonium, MD, ²⁵NYU Grossman School of Medicine, New York, NY, ²⁶Broad Institute of MIT and Harvard, Melrose, MA, ²⁷University of Colorado Anschutz Medical Campus, Aurora, CO
Background/Purpose: Lupus Nephritis (LN) significantly reduces the survival and life expectancy of patients with SLE. Given this, considerable effort has gone into characterizing the histologic…
Abstract Number: 2040 • ACR Convergence 2023
Distinguishing Multisystem Inflammatory Syndrome in Children from Typhus Using Artificial Intelligence: MISC vs. Endemic Typhus (AI-MET)
Angela Chun¹, Abraham Bautista-Castillo², Isabella Osuna¹, Kristiana Nasto¹, Flor Munoz³, Gordon Schutze¹, Sridevi Devaraj¹, Eyal Muscal⁴, Marietta De Guzman⁵, Kristen Sexson Tejtel¹, Ioannis Kakadiaris² and Tiphanie Vogel¹, ¹Baylor College of Medicine / Texas Children's Hospital, Houston, TX, ²Computational Biomedicine Lab University of Houston, Houston, TX, ³Baylor College of Medicine, Texas Children's Hospital, Houston, TX, ⁴Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, ⁵Baylor College of Medicine, Houston, TX
Background/Purpose: Multisystem inflammatory syndrome in children (MIS-C) following SARS-CoV2infection is a recognized mimic of other inflammatory disorders, including Kawasaki Disease and macrophage activation syndrome. However,…
Abstract Number: 0033 • ACR Convergence 2023
A Novel Transcriptome-Based Machine Learning Pipeline Predicts Phenotypes of Lupus Patients
Emily Leventhal¹, Andrea Daamen¹, Amrie Grammer² and Peter Lipsky², ¹AMPEL BioSolutions, LLC, and The RILITE Research Institute, Charlottesville, VA, ²AMPEL BioSolutions, Charlottesville, VA
Background/Purpose: Gene expression analysis coupled with machine learning (ML) holds the promise of identifying subsets of patients with heterogeneous diseases, such as systemic lupus erythematosus…

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