Abstracts tagged "Bioinformatics"

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: L01 • ACR Convergence 2023
Analysis of 245,388 Diverse Participants in the NIH All of Us Cohort Identifies VEXAS Resiliency in UBA1 M41L Somatic Mutation Carriers
Robert Corty¹ and Alexander Bick², ¹Vanderbilt University Medical Center, Nashville, TN, ²Vanderbilt University, Nashville, TN
Background/Purpose: VEXAS syndrome is a recently-discovered systemic auto-inflammatory disease caused by somatic mutation at position 41 in the X-linked gene UBA1.1 First, 25 older men…
Abstract Number: 0046 • ACR Convergence 2023
Circulating Monocytes in RA, SSc, and SLE Have Radically Altered and Unique Transcriptional & Epigenetic Profiles
Kieran Woolcock¹, Nila Servaas², Maarten van der Kroef², Stephen Delaney³, John Cole¹, Aridaman Pandit² and Carl Goodyear¹, ¹University of Glasgow, Glasgow, United Kingdom, ²University Medical Center Utrecht and Utrecht University, Utrecht, Netherlands, ³Research and Early Development, Respiratory and Immunology (R&I), BioPharmaceuticals R&D, AstraZeneca, Gothenburg, Sweden
Background/Purpose: Rheumatoid arthritis (RA), Systemic lupus erythematosus (SLE), and Systemic sclerosis (SSc) are all systemic rheumatic autoimmune diseases with a dysregulated myeloid compartment. Monocytes are…
Abstract Number: 0884 • ACR Convergence 2023
Identification of a Mast Cell-high Synovial Pathotype of Osteoarthritis
Shady Younis, Audrey Bai, heidi Wong, Zelda Love, Qian Wang and William Robinson, Stanford School of Medicine, Stanford, CA
Background/Purpose: Mast cells in the osteoarthritis (OA) synovium correlate with disease severity. This study aimed to further elucidate the role of mast cells in OA…
Abstract Number: 1657 • ACR Convergence 2023
Mapping the Network of Coordinated Immune Dysregulation in Juvenile Dermatomyositis at Single-cell Resolution
Gabrielle Rabadam¹, Camilla Wibrand², Emily Flynn¹, George Hartoularos¹, Yang Sun¹, Susan Kim³, Chun Jimmie Ye¹, Zev Gartner¹, Marina Sirota⁴ and Jessica Neely¹, ¹University of California San Francisco, San Francisco, CA, ²Aarhus University, Aarhus, Denmark, and University of California San Francisco, San Francisco, CA, ³UCSF Benioff Children's Hospital, San Francisco, CA, ⁴Bakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA
Background/Purpose: Juvenile Dermatomyositis (JDM) is a rare multisystem autoimmune condition that involves complex immune responses in both innate and adaptive compartments. Currently, we have a…
Abstract Number: 2438 • ACR Convergence 2023
Synovial Tissue Single-Cell Analysis Demonstrates Differential Fibroblast Populations Between RA and PsA Which Display Distinct Function
Órla Tynan¹, Mary Canavan², Achilleas Floudas³, Conor Smith⁴, Aoife O' Rourke⁴, Dumitru Anton⁵, Carl Orr⁶, Douglas Veale⁷ and Ursula Fearon⁸, ¹Molecular Rheumatology Department, Trinity Biomedical Sciences Institute, Trinity College Dublin, Ireland, EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, Dublin, Ireland, ²Molecular Rheumatology Department, Trinity Biomedical Sciences Institute, Trinity College Dublin, EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, School of Biochemistry & Immunology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland, ³Dublin City University, Dublin, Ireland, ⁴Translational Immunology, Trinity Biomedical Sciences Institute, Dublin, Ireland, ⁵Molecular Rheumatology Department, Trinity Biomedical Sciences Institute, Trinity College Dublin, EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, Dublin, Ireland, ⁶EULAR Centre for Arthritis and Rheumatic Diseases, St Vincent University Hospital, University College Dublin, Dublin, Ireland, ⁷St.Vincent's University Hosp, Dublin, Ireland, ⁸Trinity College Dublin, Dublin, Ireland
Background/Purpose: Synovial fibroblasts (FLS) are key contributors to joint inflammation and damage in patients with Rheumatoid (RA) and Psoriatic Arthritis (PsA). Recent studies have identified…
Abstract Number: 0063 • ACR Convergence 2023
Investigating Macrophage Repopulation in the Synovium
Jessica Maciuch¹, Yidan Wang², Slim Fourati¹, Harris Perlman¹ and Deborah Winter³, ¹Northwestern University, Chicago, IL, ²Northwestern University, Hanover Park, IL, ³Northwestern University, Skokie, IL
Background/Purpose: Rheumatoid Arthritis (RA) is an autoimmune disease characterized by chronic inflammation of the joints. Macrophages are a key mediator of pro-inflammatory signaling, contributing to…
Abstract Number: 0899 • ACR Convergence 2023
Complement Factor I (CFI) Gene Expression by Kidney Tubular Cells Is Increased in Lupus Nephritis Patients with Interstitial Fibrosis and Tubular Atrophy
Shudan Wang¹, John Greally², Masako Suzuki³, Jee-Young Moon², Tao Wang², Yvonne M Saenger², Brad Rovin⁴ and J. Michelle Kahlenberg⁵, ¹Albert Einstein College of Medicine / Montefiore Medical Center, New York, NY, ²Albert Einstein College of Medicine, Bronx, NY, ³Texas A&M University, College Station, TX, ⁴Ohio State University, Columbus, OH, ⁵University of Michigan, Ann Arbor, MI
Background/Purpose: Tubulointerstitial injury is a strong predictor of progression to kidney failure in lupus nephritis (LN). Prior animal studies suggest intrarenal complement activation has an…
Abstract Number: 1658 • ACR Convergence 2023
Title: Inflammatory Arthritis Across the Age-Spectrum: Single-Cell Profiling of the Inflamed Synovium in Children with Juvenile Idiopathic Arthritis
Chrissy Bolton¹, Christopher Mahony², Charlotte Smith², Vicky Alexiou³, Huong Nguyen³, Patricia Reis-Nisa², Søren Lomholt⁴, Annie Hackland², Sugrah Sultan⁵, Klaudia Kupiec³, Sunit Davda⁶, Charlene Foley⁶, Calliope Dendrou¹, Elizabeth C Rosser⁷, Accelerating Medicines Partnership Program RA SLE Network⁸, Anna Helena Jonsson⁹, Fan Zhang¹⁰, Michael Brenner¹¹, Soumya Raychaudhuri⁹, Christopher Buckley¹, Manigandan Thyagarajan⁵, Zishan Shiekh⁵, Sandrine Compeyrot-Lacassagne⁶, Samantha Chippington⁶, Mark Coles¹, Eslam Al-Abadi⁵, Andrew Filer², Tissue Research in Childhood Onset Inflammatory Arthritis (TRICIA) Consortium¹², Lucy R Wedderburn³ and Adam Croft², ¹University of Oxford, Oxford, United Kingdom, ²University of Birmingham, Birmingham, United Kingdom, ³UCL Great Ormond Street Institute of Child Health, London, United Kingdom, ⁴Aarhus University, Aarhus, Denmark, ⁵Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, United Kingdom, ⁶Great Ormond Street Hospital, London, United Kingdom, ⁷University College London, London, United Kingdom, ⁸Cedars-Sinai Medical Center, Los Angeles, CA, ⁹Brigham and Women's Hospital, Boston, MA, ¹⁰University of Colorado, Aurora, CO, ¹¹Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ¹²MRC, Birmingham, United Kingdom
Background/Purpose: Understanding the unique and shared pathogenic processes between childhood-onset and adult-onset inflammatory arthritides is needed to guide more effective drug development and their application…
Abstract Number: 2461 • ACR Convergence 2023
Transcriptional Derepression of CHD4/NuRD-regulated Genes in the Muscle of Patients with Dermatomyositis and anti-Mi2 Autoantibodies
Iago Pinal-Fernandez¹, Jose Cesar Milisenda², Katherine Pak¹, Sandra Muñoz-Braceras³, Maria Casal-Dominguez³, Jose Jiram Torres-Ruiz³, Stefania Dell´Orso⁴, Faiza Naz⁴, Gustavo Gutierrez-Cruz⁴, Yaiza Duque-Jaimez², Ana Matas-Garcia², Joan Padrosa⁵, Francesc J Garcia-Garcia², Mariona Guitart-Manpel², Gloria Garrabou², Ernesto Trallero-Araguas⁶, Brian Wallit⁷, Julie Paik⁸, Jemima Albayda⁸, Lisa Christopher-Stine⁸, Tom Lloyd⁹, Josep Maria Grau², Albert Selva-O’Callaghan⁶ and Andrew Mammen¹⁰, ¹National Institutes of Health, Bethesda, MD, ²Muscle Research Unit, Internal Medicine Service, Hospital Clinic, Barcelona, Spain, ³Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁵CIBERER, Barcelona, Spain, Barcelona, Spain, ⁶Systemic Autoimmune Disease Unit, Vall d’Hebron Institute of Research, Barcelona, Spain, ⁷National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD, ⁸Johns Hopkins University, Baltimore, MD, ⁹Johns Hopkins University School of Medicine, Baltimore, MD, ¹⁰NIH, Bethesda, MD
Background/Purpose: Myositis is a heterogeneous family of diseases including dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM), antisynthetase syndrome (AS), and inclusion body myositis (IBM). Myositis-specific autoantibodies…
Abstract Number: 0108 • ACR Convergence 2023
Decoding Antiphospholipid Syndrome Laboratory Test Outcomes in a Large Multicenter Electronic Health Record Database
Emily Balczewski, Wenying Liang, Amala Ambati, Yu Zuo, Karandeep Singh and Jason Knight, University of Michigan, Ann Arbor, MI
Background/Purpose: Electronic health record (EHR) data provide an inexpensive, information-rich tool to study rare diseases like antiphospholipid syndrome (APS). Many such studies rely on structured…

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