Abstracts tagged "genomics"

Abstract Number: 2046 • ACR Convergence 2025
Utilization of the All of Us Research Program to Study the Impact of Genetic Background on Autoinflammatory Diseases
Song Wu¹, Zuoming Deng², Peter Gorevic¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
Background/Purpose: A widely recognized model of disease pathogenesis is the potential interplay of gene x gene x environment. Low penetrance variants in the NOD-like receptor…
Abstract Number: 1056 • ACR Convergence 2025
High diagnostic rate of genetic testing in adult patients with autoinflammation: A Single Center Experience
Atif Towheed¹, Joshua Owens², Ann Parody¹ and Daniella Schwartz³, ¹University of Pittsburgh Medical Centre, Pittsburgh, ²UPMC Children’s Hospital of Pittsburgh, Pittsburgh, ³University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Inborn errors of immunity (IEI), including autoinflammatory diseases and primary immune regulation disease (PIRD), are unfamiliar to many adult rheumatologists, leading to potential ascertainment…
Abstract Number: 0025 • ACR Convergence 2025
Expansion and Transcriptional Reprogramming of CD14⁺ and CD16⁺ Monocytes in Behçet’s Disease
Elio Carmona¹, Rabia Deniz², Cemal Bes³, Haner Direskeneli⁴, Ahmet Gul⁵ and Amr Sawalha⁶, ¹Division of Pediatric Rheumatology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA, Pittsburgh, ²University of Health Sciences Basaksehir Çam and Sakura City Hospital, Istanbul, Turkey, ³University of Health Sciences, Basaksehir Çam and Sakura City Hospital, Istanbul, Turkey, ⁴Marmara University, ISTANBUL, Turkey, ⁵Istanbul University, Istanbul, Turkey, ⁶University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Behçet’s disease (BD) is a chronic, relapsing inflammatory disease characterized by complex immunopathogenesis and limited treatment options. Monocytes are known to play a significant…
Abstract Number: 1844 • ACR Convergence 2025
Disease-Associated Macrophages Express an Injury-Associated Gene Program and Localize to Distinct Compartments in Proliferative and Mixed Histologic Classes of Lupus Nephritis
Paul Hoover¹, Rollin Leavitt², Jill Buyon³, Jennifer Anolik⁴, Jennifer Barnas⁵, Judith James⁶, Joel Guthridge⁶, Michelle Petri⁷, Betty Diamond⁸, Soumya Raychaudhuri¹, Nir Hacohen⁹, Anne Davidson¹⁰ and Arnon Arazi¹¹, ¹Brigham and Women's Hospital, Boston, MA, ²Broad Institute, Boston, MA, ³NYU Grossman School of Medicine, New York, NY, ⁴University of Rochester Medical Center, Rochester, NY, ⁵University of Rochester, Rochester, NY, ⁶Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁷Johns Hopkins University School of Medicine, Timonium, MD, ⁸The Feinstein Institutes for Medical Research, Manhasset, NY, ⁹Broad Institute, Cambridge, MA, ¹⁰Feinstein Institutes for Medical Research, Manhasset, NY, ¹¹The Feinstein Institutes for Medical Research, Manhasset
Background/Purpose: In collaboration with the AMP-RA/SLE network, we identified disease-associated macrophages (D-Macs) in kidney biopsies from 155 patients with active lupus nephritis (LN) and 30…
Abstract Number: 0970 • ACR Convergence 2025
Genomic instability in systemic sclerosis is promoted by metabolic remodelling via a FOXO1-dependent axis
Lamia Khan¹, Junqin Wang², Aishwarya Iyer², Desiree Redmond², Dylan Hennessey², Sandra O'Keefe², Jan Storek³, Charmaine van Eeden², Robert Gniadecki² and Mohammed Osman¹, ¹University of Alberta, Edmonton, AB, Canada, ²Department of Medicine, University of Alberta, Edmonton, AB, Canada, ³University of Calgary, Calgary, AB, Canada
Background/Purpose: Systemic sclerosis (SSc) is a life-threatening autoimmune disease with limited treatment options, including autologous hematopoietic stem cell transplantation (AHSCT). We recently showed that dermal…
Abstract Number: 0022 • ACR Convergence 2025
Genome-wide association study identifies novel genetic risk factors for rheumatoid arthritis-associated interstitial lung disease
Austin Wheeler¹, Thomas Riley², Riku Takei³, Joshua Baker², Yangyuna Yang¹, Punyasha Roul⁴, Katherine Wysham⁵, Grant Cannon⁶, Gary Kunkel⁷, Gail Kerr⁸, Dana Ascherman⁹, Paul Monach¹⁰, Andreas Reimold¹¹, Jill Poole¹, Ted Mikuls¹, Tony Merriman¹² and Bryant England¹, ¹University of Nebraska Medical Center, Omaha, NE, ²University of Pennsylvania, Philadelphia, PA, ³University of Alabama at Birmingham, Birmingham, AL, ⁴UNMC, Omaha, NE, ⁵VA PUGET SOUND/UNIVERSITY OF WASHINGTON, Seattle, WA, ⁶University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁷University of Utah and George E Wahlen VAMC, Salt Lake City, UT, ⁸Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, ⁹University of Pittsburgh, Pittsburgh, PA, ¹⁰VA Boston Healthcare System, Boston, MA, ¹¹Dallas VA Medical Center, Dallas, TX, ¹²University of Alabama at Birmingham, Homewood, AL
Background/Purpose: Interstitial lung disease (ILD) is clinically present in ~10% of individuals with RA. There is recognized overlap between RA-ILD and idiopathic pulmonary fibrosis (IPF)…
Abstract Number: 1839 • ACR Convergence 2025
Transcriptional Profiling of Whole Blood and Kidney Biopsy Samples from Lupus Nephritis and IgA Nephropathy Patients Suggests Different Disease Pathways
Christopher Sisk¹, Loqmane Seridi², Alan Perlman³, Matthew Loza², Sheng Gao², Thomas Parker⁴, Daniel Levine⁴, Thangamani Muthukumar⁵, Yonatan Bardash⁶, Benjamin Horowitz⁷, Surya Seshan⁵ and James Chevalier³, ¹Johnson & Johnson, San Diego, CA, USA, San Diego, CA, CA, ²Johnson & Johnson, Spring House, PA, ³The Rogosin Institute, New York, NY, ⁴The Rogosin Institute, Weill Cornell Medical College, New York, NY, ⁵Weill Cornell Medical College, New York, NY, ⁶Hackensack Meridian Health, Hackensack, NJ, ⁷Columbia University Medical Center, New York, NY
Background/Purpose: Lupus nephritis (LN) is a severe complication of systemic lupus erythematosus (SLE), associated with significant morbidity and mortality. IgA nephropathy (IgAN) is the most…
Abstract Number: 0893 • ACR Convergence 2025
Transcriptomic insights into GCA compared to clinically diverse controls: Inflammation, Aging, Therapeutic Targets and the role of SPP1 in the temporal artery
Ingrid Lindquist¹, Alisha Eskew², Dongsoek Choi³, David Wilson⁴, Diva Salomao⁵, Hillary Stiefel⁴, Daniel Albert⁴, Kiana Vakil-Gilani⁶, Daniela Ghetie⁷, James Rosenbaum⁸ and Marcia Friedman⁹, ¹Portland VA Medical Center, Portland, OR, ²OHSU, Portland, OR, ³OHSU, Portland, ⁴Casey Eye Institute OHSU, Portland, OR, ⁵Mayo Clinic, Rochester, MN, ⁶PeaceHealth, Portland, OR, ⁷OHSU, Lake Oswego, OR, ⁸Legacy Devers Eye Institute, Portland, OR, ⁹Immpact Bio, Beaverton, OR
Background/Purpose: Giant cell arteritis (GCA) is the most common vasculitis in people over 50 years old and is a clinical diagnosis bolstered by non-specific inflammatory…
Abstract Number: 0021 • ACR Convergence 2025
DoCTIS: A Single Cell RNA-Seq Atlas of Drug Response To Targeted Therapies
Antonio Julià¹, Yolanda Guillén², Paloma Vela Casasempere³, Antonio Fernández Nebro⁴, Carlos Marras⁵, Santos Castañeda⁶, Jaime Calvo Alén⁷, Jesús Tornero Molina⁸, Juan Cañete⁹, Eugeni Domènech¹⁰, Javier Gisbert¹¹, Jose M. Carrascosa¹², Eduardo Fonseca¹³, Luis Bujanda Fernández De pierola¹⁴, Valle García Sánchez¹⁵, Britta Siegmund¹⁶, Giampiero Girolomoni¹⁷, Holger Heyn¹⁸, Laura Jiménez Gracia¹⁸, Pere Santamaria¹⁹, Edgar Angelats²⁰, Richard Myers²¹, Sergio H. Martínez Mateu², Juan Ángel Patiño Galindo², Ernest Choy²² and Sara Marsal¹, ¹Vall d'Hebron Hospital Research Institute, Rheumatology Research Group, Barcelona, Spain, ²IMIDomics, Barcelona, Spain, ³Hospital General Universitario de Alicante, Rheumatology, Alicante, Spain, ⁴Hospital Regional Universitario Carlos Haya, Rheumatology, Málaga, Spain, ⁵Hospital Universitario Virgen de la Arrixaca, Rheumatology, Murcia, Spain, ⁶Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ⁷Hospital Universitario de Araba, Rheumatology, Vitoria, Spain, ⁸Hospital Universitario de Guadalajara, Rheumatology, Guadalajara, Spain, ⁹Rheumatology Department, Hospital Clínic and IDIBAPS, Barcelona, Spain, Barcelona, Spain, ¹⁰Hospital Universitari Germans Trias i Pujol, Gastroenterology, Badalona, Spain, ¹¹Hospital Universitario La Princesa, Rheumatology, Madrid, Spain, ¹²Hospital Universitari Germans Trias i Pujol, Dermatology, Badalona, Spain, ¹³Complejo Hospitalario Universitario de A Coruña, Dermatology, A Coruña, Spain, ¹⁴Hospital Universitario de Donostia, Gastroenterology, San Sebastián, Spain, ¹⁵Hospital Universitario Reina Sofía, Gastroenterology, Córdoba, Spain, ¹⁶Charité-Universitätsmedizin Berlin, Gastroenterology, Berlin, Germany, ¹⁷University of Verona, Dermatology, Verona, Spain, ¹⁸Centre for Genomic Regulation (CNAG-CRG), Barcelona, Spain, ¹⁹Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelonoa, Spain, ²⁰Hospital Clínic-IDIBAPS, Barcelona, Spain, ²¹HudsonAlpha Institute for Biotechnology, Huntsville, AL, ²²Division of Infection and Immunity, CREATE Centre, Cardiff University, Cardiff, United Kingdom
Background/Purpose: Targeted therapies have revolutionized the management of immune-mediated inflammatory diseases (IMIDs), however, there is a substantial number of patients who respond poorly to a…
Abstract Number: 1829 • ACR Convergence 2025
Multiomic Investigation of Juvenile Idiopathic Arthritis Synovium Reveals Immune Cell Heterogeneity
Abigail Thielbar¹, Tracy Ting², Lexi Auld³, Kelly Rogers⁴, Megan Quinlan-Waters⁵, Sheila Angeles-Han⁴, Ekemini Ogbu², Daniel Lovell², Jennifer Huggins⁶, Grant Schulert², Patricia Vega-Fernandez² and Yuriy Baglaenko⁴, ¹Cincinnati Children's Hospital, Cincinnati, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Cincinnati Children's Hospital Medical Center, Division of Rheumatology, Cincinnati, OH, ⁴Cincinnati Children's Hospital, Cincinnati, OH, ⁵Cincinnati Children's Hospital Medical Center, CCHMC, ⁶Cincinnati Children's Medical Center, Cincinnati, OH
Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common chronic inflammatory rheumatic disease of childhood, affecting 1:1,000 children worldwide. The hallmark of JIA is immune-mediated…
Abstract Number: 0693 • ACR Convergence 2025
Impact of X Chromosome Dosage on the Development of Diffuse and Limited Systemic Sclerosis in Klinefelter, Triple X, and Turner Syndromes: A Multicenter Cohort Study
Hanieh Akbari¹, Anna-Kay Palmer² and Irene Tan³, ¹Jefferson Einstein Montgomery Medical Center, Norristown, PA, ²Jefferson Einstein Philadelphia Hospital, Department of Internal Medicine, Philadelphia, PA, ³Einstein Healthcare Network Philadelphia - Jefferson Health, Bala Cynwyd, PA
Background/Purpose: Diffuse and limited systemic sclerosis (SSc) are autoimmune connective tissue diseases with a strong female predominance, suggesting a potential role for X chromosome dosage…
Abstract Number: 1826 • ACR Convergence 2025
Single Nuclei Multiome of JDM Muscle Biopsies Reveals Novel Upregulation of Inflammatory and Vascular Pathways
Shannon O'Connor, Casey Swoboda, Matthew Weirauch, Alexander Zygmunt, Douglas Millay and Leah Kottyan, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Juvenile dermatomyositis (JDM) is a multisystem vasculopathy and inflammatory myopathy characterized by proximal muscle weakness, distinct rash, and risk of long-term complications such as…
Abstract Number: 0845 • ACR Convergence 2025
Machine Learning–Based Skin Transcriptome Classifier (v2.0) Links SSc Molecular Subtypes to Disease Severity and Progression
Zhiyun Gong¹, Rezvan Parvizi², Helen Jarnagin¹, Haobin Chen³, Madeline Morrisson⁴, Tammara Wood⁵, Monique Hinchcliff⁶, Dinesh Khanna⁷ and Michael Whitfield⁸, ¹Dartmouth College, Lebanon, NH, ²Dartmouth, lebanon, NH, ³Dartmouth Collge, Lebanon, NH, ⁴Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁵Dartmouth, Hanover, NH, ⁶Yale School of Medicine, Westport, CT, ⁷University of Michigan, Ann Arbor, MI, ⁸Geisel School of Medicine, Lebanon, NH
Background/Purpose: Systemic Sclerosis (SSc) is a clinically and molecularly heterogeneous autoimmune disease. We identified five intrinsic molecular subtypes in SSc by applying semi-supervised machine learning…
Abstract Number: 1793 • ACR Convergence 2025
Sex-associated changes to synovial macrophages in the aging joint
Matthew Dapas¹, Erica De Jong², Yidan Wang³, Cally Mills³, Samuel Dowling⁴, Tyler Therron⁵, Carla Marie Cuda³, Dawn Bowdish⁶ and Deborah Rachelle Winter⁷, ¹Northwestern University Feinberg School of Medicine, Chicago, IL, ²McMaster Immunology Research Centre, Hamilton, ON, Canada, ³Northwestern University, Chicago, IL, ⁴Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁵Northwestern Feinberg School of Medicine, Chicago, IL, ⁶McMaster University, Hamilton, ON, Canada, ⁷Northwestern University, Skokie, IL
Background/Purpose: Macrophages are found in nearly every tissue of the body where they maintain homeostasis and drive healthy immune response. However, macrophages are dysregulated with…
Abstract Number: 0819 • ACR Convergence 2025
Subcellular resolution spatial transcriptomics reveals immune-stromal crosstalk within the synovium of patients with juvenile idiopathic arthritis
Jun Inamo¹, Roselyn Fierkens², Michael Clay², Clara Lin³, Kari Hayes², Nathan Rogers⁴, Heather Leach² and Kentaro Yomogida², ¹University of Colorado School of Medicine, Aurora, CO, ²University of Colorado, Aurora, CO, ³Children's Hospital Colorado, Aurora, CO, ⁴Children’s Hospital Colorado, Aurora, CO
Background/Purpose: Juvenile idiopathic arthritis (JIA) is the most common chronic pediatric rheumatic disease, yet the spatial immune architecture of inflamed synovium remains poorly characterized. Prior…

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