Abstracts tagged "genomics"

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…
Abstract Number: 1763 • ACR Convergence 2025
Spatial Organization and Function of Disease-Associated Macrophages in Lupus Nephritis: Insights from Cross-Species Analyses
Paul Hoover¹, Chirag Raparia², Rollin Leavitt³, Nir Hacohen⁴, Arnon Arazi⁵ and Anne Davidson², ¹Brigham and Women's Hospital, Boston, MA, ²Feinstein Institutes for Medical Research, Manhasset, NY, ³Broad Institute, Boston, MA, ⁴Broad Institute, Cambridge, MA, ⁵The Feinstein Institutes for Medical Research, Manhasset
Background/Purpose: Myeloid cells are linked to kidney injury in lupus nephritis (LN) but lack targeted therapies, underscoring the need to better understand myeloid biology in…
Abstract Number: 0812 • ACR Convergence 2025
Anti-CD206 CAR T Cell Immunotherapy Mitigates Dermal Pathology in Systemic Sclerosis
Chanhyuk Park¹, Helen Jarnagin², Asmaa Mohamed³, Noelle Kosarek⁴, Owen Wilkins¹, Fred Kolling¹, Yina Huang¹, Michael Whitfield⁵ and Patricia Pioli¹, ¹Geisel School of Medicine at Dartmouth, Lebanon, NH, ²Dartmouth College, Lebanon, NH, ³Geisel School of Medicine at Dartmouth, Charlottesville, VA, ⁴Dartmouth Geisel School of Medicine, Lebanon, NH, ⁵Geisel School of Medicine, Lebanon, NH
Background/Purpose: Systemic sclerosis (SSc) is a progressive, chronic multi-system disorder of unknown etiology that is characterized by immune dysfunction, fibrosis, and loss of dermal white…
Abstract Number: 1755 • ACR Convergence 2025
Multi-Omic Profiling Of CD8+ T Cells In Axial Spondyloarthritis (axSpA) And Reactive Arthritis (ReA) Implicates Common Pathways
Zoya Qaiyum¹, Michael Tang², Shirin Soleimani³, Addison Pacheco², Melissa Lim⁴, Fataneh Tavasolian⁴, Trevor Pugh³ and Robert Inman², ¹Schroeder Arthritis Institute, University Health Network, Toronto, ON, Canada, ²University Health Network, Toronto, ON, Canada, ³Princess Margaret Cancer Centre, University Health Network, Toronto, Canada, ⁴University of Toronto, Toronto, ON, Canada
Background/Purpose: The strong clinical and genetic associations between axial spondyloarthritis (axSpA) and inflammatory bowel disease (IBD) underscore the pathogenic role of the gut-joint axis. We…
Abstract Number: 0811 • ACR Convergence 2025
SSc Skin Cell Atlas: a Scalable Web Portal for scRNA-Seq Analysis
Helen Jarnagin¹, Zhiyun Gong¹, Rachael Bogle², Alex Tsoi², Rezvan Parvizi³, Madeline Morrisson⁴, Dinesh Khanna⁵, Johann Gudjonsson⁵ and Michael Whitfield⁶, ¹Dartmouth College, Lebanon, NH, ²University of Michigan, Holland, OH, ³Dartmouth, lebanon, NH, ⁴Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁵University of Michigan, Ann Arbor, MI, ⁶Geisel School of Medicine, Lebanon, NH
Background/Purpose: Despite the recent popularity and utility of modern high-resolution sequencing technologies, leveraging publicly available single-cell studies remains hampered by the need for substantial computational…
Abstract Number: 1725 • ACR Convergence 2025
Functional NOTCH4 Variants Drive Vasculopathy and Fibrosis in Systemic Sclerosis.
U. Kaundal: None; P. Tsou: None; M. Sahu: None; M. Huang: None; S. Boyden: None; C. Woodford: None; D. Shriner: None; S. Safran: None; Y. Zhou: None; X. Zhang: None; Y. Kunishita: None; A. Shah: None; M. Mayes: Argenx, 2, AstraZeneca, 5, atyr, 5, Boehringer-Ingelheim, 5, Bristol-Myers Squibb(BMS), 1, 5, h, 5, Novartis, 2, prometheus merck, 5; A. Doumatey: None; A. Bentley: None; R. Domsic: None; T. Medsger, Jr: None; P. Ramos: None; R. Silver: None; V. Steen: None; J. Varga: None; V. Hsu: None; L. Saketkoo: Abbvie, 6, Argenx, 1, 2, 5, aTyr Pharmaceuticals, 12,, 1, 5, Boehringer-Ingelheim, 2, 5, 6, CSL Behring, 5, EMD Serono, 2, 5, Horizon, 5, Johnson & Johnson, 6, Kadmon, 5, Kinevant, 12,, 2, 5, Mallinckrodt, 1, 2, 5, Novartis, 1, 2, 5, Priovant, 5; E. Schiopu: None; J. Gordon: Cumberland, 5, Prometheus/Merck, 5; L. Criswell: None; H. Gladue: None; C. Derk: None; E. Bernstein: AstraZeneca, 5, aTYR, 5, Boehringer-Ingelheim, 2, 5, Bristol-Myers Squibb(BMS), 5, Cabaletta Bio, 5, Synthekine, 2; S. Bridges: None; V. Shanmugam: None; L. Chung: AbbVie/Abbott, 1, Boehringer-Ingelheim, 1, CRISPR Therpeutics, 2, Cure Ventures, 2, jade, 2, Kyverna, 6, Mediar, 1, 2; S. Kafaja: None; M. TROJANOWSKI: None; B. Korman: None; J. Thomas: None; S. Dell'orso: None; d. Randazzo: None; A. Adeyemo: None; E. Remmers: None; P. Schwartzberg: None; I. Aksentijevich: In Vitro Diagnostics, 9; C. Rotimi: None; F. Wigley: None; R. Wang: None; F. Boin: Adicet Bio, 2, Boehringer Ingelheim, 1, Janssen Pharmaceuticals, 6; D. Khanna: Argenx, 2, AstraZeneca, 2, Boehringer-Ingelheim, 2, Bristol-Myers Squibb(BMS), 2, Cabaletta, 2, Novartis, 2, UCB, 2, Zura Bio, 2; R. Lafyatis: AbbVie/Abbott, 2, Advarra/GSK, 12, Independent Data Safety Monitoring Committees, Boehringer-Ingelheim, 2, Bristol-Myers Squibb(BMS), 2, 5, EMD Sereno, 2, Formation, 2, 5, Genentech, 12, Independent Data Safety Monitoring Committees, Genentech/Roche, 2, Mediar, 2, Merck/MSD, 2, Moderna, 5, Modumac Therapeutics Inc., 12, President and holds stock, Morphic, 2, Pfizer, 5, Regeneron, 5, Sanofi, 2, Third Rock Ventures, 2, Thirona Bio, 2, Zag Bio, 2; D. Kastner: In Vitro Diagnostics, 12, NIH Licensing Agreement; P. Gourh: None; E. Stenson: None; T. Talley: None; K. Gudapati: None; J. Wong: None; R. Jan: None; A. Goldberg: None; J. Mullikin: None.

Background/Purpose: Systemic sclerosis (SSc) is characterized by vasculopathy, progressive fibrosis of skin and internal organs, and autoimmunity. Notably, African American (AA) patients with SSc exhibit…
Abstract Number: 0774 • ACR Convergence 2025
Longitudinal peripheral blood multi-omic profiling in at-risk individuals uncovers immune signatures and predictive models for future rheumatoid arthritis conversion
Jun Inamo¹, Aleksandra Bylinska², Miles Smith², Lauren Vanderlinden³, Christian Wright⁴, Tayte Stephens⁵, Marie Feser⁶, Christopher Striebich⁷, James O'Dell⁸, Jeffrey Sparks⁹, John Davis¹⁰, Jonathan Graf¹¹, Maureen McMahon¹², Elizabeth Solow¹³, Lindsy Forbess¹⁴, Athan Tiliakos¹⁵, David Fox¹⁶, Maria I. Danila¹⁷, Diane Lewis. Horowitz¹⁸, Jonathan Kay¹⁹, Judith James², V. Michael Holers²⁰, Kevin Deane²¹, Joel Guthridge² and Fan Zhang²², ¹University of Colorado School of Medicine, Aurora, CO, ²Oklahoma Medical Research Foundation, Oklahoma City, OK, ³University of Colorado Anschutz Medical Campus, Monument, CO, ⁴University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁵University of Oklahoma Health Science Center, Oklahoma City, OK, ⁶University of Colorado Anschutz Medical Campus, Aurora, CO, ⁷University of Colorado, Aurora, CO, ⁸University of Nebraska Medical Center, Omaha, NE, ⁹Brigham and Women's Hospital, Boston, MA, ¹⁰Mayo Clinic, Rochester, MN, ¹¹UCSF, San Francisco, CA, ¹²UCLA David Geffen School of Medicine, Los Angeles, CA, ¹³UT Southwestern Medical Center, Dallas, TX, ¹⁴Cedars-Sinai Medical Center, Los Angeles, CA, ¹⁵Emory University, Roswell, GA, ¹⁶University of Michigan, Dexter, MI, ¹⁷University of Alabama at Birmingham, Birmingham, ¹⁸Northwell Health, New Hyde Park, ¹⁹UMass Chan Medical School, Worcester, MA, ²⁰University of Colorado Anschutz Medical Campus, Aurora, ²¹University of Colorado Denver Anschutz Medical Campus, Aurora, CO, ²²The University of Colorado, Aurora, CO

Background/Purpose: Seropositive rheumatoid arthritis (RA) has an at-risk stage identifiable by elevations of antibodies to cyclic citrullinated peptide (CCP). Identifying the immunologic factors that distinguish…
Abstract Number: 1699 • ACR Convergence 2025
Protein-coding Somatic Genetic Variation in Lymphocytes in Systemic Lupus Erythematosus
Siva Kasinathan¹, Minh Pham² and Ansuman Satpathy², ¹Stanford University School of Medicine, Palo Alto, CA, ²Stanford University School of Medicine, Stanford, CA
Background/Purpose: The genetic and environmental factors underlying pathogenesis of systemic lupus erythematosus (SLE) are incompletely resolved. While inherited genetic variation has been extensively queried in…
Abstract Number: 0104 • ACR Convergence 2025
Dissecting the Genetic and Functional Association of CARD9 with Axial Spondyloarthritis
Félicie Costantino¹, Eva Frison², Andrew Brown³, Carla Cohen³, Manon Jacoutot⁴, Gabriele Migliorini³, roula Said-Nahal⁵, Giuseppe Scozzafava³, Paul Bowness⁶, Paul Wordsworth⁶, Henri-Jean Garchon², Simon Glatigny⁴, Maxime Breban⁷ and Julian Knight⁶, ¹Department of Rheumatology, Ambroise Paré Hospital, AP-HP, Paris, France and Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny-Le-Bretonneux, France, ²Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny le Bretonneux, France, ³NIHR Oxford Biomedical Research Centre, University of Oxford, Centre for Human Genetics, Oxford, United Kingdom, ⁴Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Montigny-Le-Bretonneux, France, ⁵Department of Rheumatology, Ambroise Paré Hospital, AP-HP, Paris, France and Infection & Inflammation, UMR ¹¹⁷³, Inserm, UVSQ/Université Paris Saclay, Boulogne-Billancourt, France, ⁶NIHR Oxford Biomedical Research Centre, University of Oxford, NDORMS, Oxford, United Kingdom, ⁷CHU Ambroise-Paré, Boulogne-Billancourt, France
Background/Purpose: Axial spondyloarthritis (axSpA) is a chronic immune-mediated inflammatory disease with strong genetic predisposition, driven by HLA-B27 and over 100 additional loci identified by genome-wide…
Abstract Number: 2700 • ACR Convergence 2025
Neutrophil Transcriptomics and Maturation Pathways in VEXAS Syndrome
Chloe Palmer¹, Gustaf Wigerblad², Tom Hill³, Benjamin Turturice¹, Urvashi Kaundal¹, Paul Schaughency³, Bhavisha Patel⁴, Emma Groarke⁵, Neal Young⁵, Stefania Dell'orso¹ and Peter Grayson⁶, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institutes of Health, Stockholm, Sweden, ³NIAID, NIH, Bethesda, MD, ⁴National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Beltsville, MD, ⁵National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, ⁶National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset inflammatory disease caused by somatic mutations of the ubiquitin-like modifier activating enzyme…

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