Abstracts tagged "genomics"

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.
Urvashi Kaundal¹, Pei-Suen Tsou², Mousumi Sahu³, Mengqi Huang⁴, Steven Boyden⁵, Curtis Woodford⁶, Daniel Shriner⁷, Emilee Stenson⁴¹, Sarah Safran⁸, Yuechen Zhou⁹, Taylor Talley⁴², Kaavya Gudapati⁴³, Xuetao Zhang⁶, Yosuke Kunishita¹⁰, Janet Wang⁴⁴, Ami Shah¹¹, Maureen Mayes¹², Ayo Doumatey¹³, Amy Bentley⁷Janet , Robyn Domsic⁴, Thomas Medsger, Jr¹⁴, Paula Ramos¹⁵, Richard Silver¹⁶, Virginia Steen¹⁷, John Varga², Vivien Hsu¹⁸, Lesley Ann Saketkoo¹⁹, Elena Schiopu²⁰, Jessica Gordon²¹, Lindsey Criswell²², Heather Gladue²³, Chris Derk²⁴, Elana Bernstein²⁵, S. Louis Bridges²¹, Victoria Shanmugam²⁶, Lorinda Chung²⁷, Suzanne Kafaja²⁸, Reem Jan⁴⁵, Marcin TROJANOWSKI²⁹, Avram Goldberg⁴⁶, Benjamin Korman³⁰, James Mullikin³¹, James Thomas³¹, Stefania Dell'orso³², davide Randazzo³³, Adebowale Adeyemo⁷, Elaine Remmers³⁴, Pamela Schwartzberg³⁵, Ivona Aksentijevich³⁶, Charles Rotimi⁷, Fredrick Wigley³⁷, Rong Wang⁶, Francesco Boin³⁸, Dinesh Khanna², Robert Lafyatis⁴, Daniel Kastner³⁹, Pravitt Gourh⁴⁰, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD, ²University of Michigan, Ann Arbor, MI, ³National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁴University of Pittsburgh, Pittsburgh, PA, ⁵Utah Center for Genetic Discovery, Department of Human Genetics, University of Utah, Salt Lake City, UT, Bethesda, MD, ⁶Laboratory for Accelerated Vascular Research, Department of Surgery, University of California, San Francisco, San Francisco, CA, san francisco, CA, ⁷Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethesda, MD, ⁸National Institute of Arthritis and Musculoskeletal and Skin Diseases, New York, NY, ⁹Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, Pittsburg, PA, ¹⁰National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Rockville, MD, ¹¹Johns Hopkins Rheumatology, Baltimore, MD, ¹²UT Health Houston Division of Rheumatology, Houston, TX, ¹³Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethedsa, MD ¹⁴Division of Rheumatology and Clinical Immunology, University of Pittsburgh School of Medicine, Pittsburgh, PA, Verona, PA, ¹⁵Emory University School of Medicine, Atlanta, GA, ¹⁶Medical University of South Carolina, Charleston, SC ¹⁷Georgetown University School of Medicine, Washington, DC, ¹⁸Rutgers- RWJ Medical School, South Plainfield, NJ, ¹⁹University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, ²⁰Division of Rheumatology, Medical College of Georgia at Augusta University, Augusta, GA, Augusta, GA, ²¹Hospital for Special Surgery, New York, NY, ²²NIH/NHGRI, Bethesda, MD, ²³Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ²⁴University of Pennsylvania, Philadelphia, PA, ²⁵Columbia University Irving Medical Center, New York, NY, ²⁶Office of Autoimmune Disease Research, Office of Research on Women's Health, Office of the Director, National Institutes of Health, Bethesda, MD, bethesda, MD, ²⁷Stanford University, Stanford, CA, ²⁸UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, ²⁹BOSTON UNIVERSITY SCHOOL OF MEDICINE, BOSTON, MA, ³⁰University of Rochester, Rochester, NY, ³¹NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethesda, MD, ³²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³³Light Imaging Section, Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, Bethesda, ³⁴Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, bethesda, MD, ³⁵Cell Signaling and Immunity Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, Bethesda, MD, ³⁶100, Bethesda, MD, ³⁷Johns Hopkins University, Baltimore, MD, ³⁸Cedars-Sinai Medical Center, Beverly Hills, CA, ³⁹National Human Genome Research Institute, Bethesda, MD, ⁴⁰National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD,⁴¹NIH, Bethesda, MD, ⁴² Spelman College and post-bac National Institutes of Health, Bethesda, MD, ⁴³Georgia Institute of Technology, Alpharetta, GA, ⁴⁴National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Beachwood, OH, ⁴⁵University of Chicago, Chicago, IL, ⁴⁶NYU Langone Health - NYU Hospital for Joint Diseases, Lake Success, NY.

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…
Abstract Number: 1700 • ACR Convergence 2025
Altered Gene Expression In Male SLE Is Mapped To a Male-Specific Y Chromosome Locus Associated with Microdeletions
Mikhail Olferiev¹, Kyriakos Kirou¹, Emily Wu², Dina Greenman¹ and Mary Crow³, ¹Hospital for Special Surgery, New York, NY, ²Hospital for Special Surgery, Union City, NJ, ³Hospital for Special Surgery, New York
Background/Purpose: SLE occurs more frequently in females than males, with relative prevalence 9-10:1. While the impact of hormones on immune function may contribute to the…
Abstract Number: 0071 • ACR Convergence 2025
Unravelling Transcriptomic Landscapes in Rheumatoid Arthritis and Systemic Lupus Erythematosus: Shared and Unique Molecular Signatures related to relevant clinical features.
Chary López pedrera¹, Tomás Cerdó², Ismael Sanchez-Pareja², Daniel Toro³, MARIA ANGELES AGUIRRE ZAMORANO², Elena Moreno-Caño⁴, Laura muñoz-Barrera², Sagrario Corrales², Rafaela Ortega-Castro⁵, Concepción Aranda-Valera⁶, Lourdes Ladehesa⁷, Jerusalén Calvo⁶, Pilar Font⁸, M Carmen Abalos-Aguilera⁹, Desiree Ruiz-Vilchez¹⁰, Christian Merlo-Ruiz⁹, Nuria Barbarroja¹¹, Carlos Pérez Sánchez¹², Marta Alarcon-Riquelme¹³ and Alejandro Escudero Contreras⁶, ¹Rheumatology service/Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, Spain, Cordoba, Spain, ²Rheumatology service/Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, Spain, Córdoba, Spain, ³GENYO / Karolinska Institutet, Granada / Stockholm, Spain, ⁴IMIBIC-Reina Sofia Hospital-University of Cordoba, Cordoba, Spain, Córdoba, Spain, ⁵Rheumatology service/Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, Spain, Cordoba, Andalucia, Spain, ⁶IMIBIC / Reina Sofia Hospital / University of Cordoba, Córdoba, Spain, ⁷IMIBIC-Reina Sofia Hospital-University of Cordoba, Cordoba, Spain, Cordoba, Spain, ⁸Rheumatology service/Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, SpainBiomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, Spain, Cordoba, Spain, ⁹Rheumatology service/Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, Spain, Córdoba, Spain, ¹⁰Department of Rheumatology, Reina Sofía University Hospital / Maimonides Institute for Biomedical Research of Córdoba (IMIBIC) / Department of Medical and Surgical Sciences, Faculty of Medicine, University of Córdoba, Spain, Cordoba, Spain, ¹¹Rheumatology service/Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, Spain/CobiomicBioscience S.l, Cordoba, Spain, Cordoba, Spain, ¹²Rheumatology service/Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, Spain/ CobiomicBioscience S.l, Cordoba, Spain, Cordoba, Spain, ¹³Fundación Progreso y Salud, Andalusian Government, Granada, Spain
Background/Purpose: This study aimed to identify shared and distinct gene and protein expression profiles associated with clinical features in rheumatoid arthritis (RA), systemic lupus erythematosus…
Abstract Number: 0904 • ACR Convergence 2024
Defining the Function of Disease Variants with CRISPR Editing and Multimodal Single Cell Sequencing
Yuriy Baglaenko¹, MIchelle Curtis², Majd Al Suqri³, Ryan Agnew³, Aparna Nathan⁴, Hafsa Mire⁴, Annelise Yoo Mah-Som³, David Liu⁵, Gregory Newby⁶ and Soumya Raychaudhuri³, ¹Cincinnati Children's Hospital, Cincinnati, OH, ²Broad Institute, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Harvard Medical School, Boston, MA, ⁵Broad Institute, Cambridge, MA, ⁶Johns Hopkins, Baltimore, MD
Background/Purpose: Genetic studies have identified thousands of individual disease-associated non-coding alleles, but identification of the causal alleles and their functions remain critical bottlenecks. Even though…
Abstract Number: 1810 • ACR Convergence 2024
Modulation of Type I Interferon Signaling by Anifrolumab Alters the Spatial Immune Landscape in Cutaneous Lupus Erythematosus
Ksenia Anufrieva¹, Rochelle Castillo², Ce Gao², Jessica Liu², Neda Shahriari², Kimberly Hashemi², Dustin Taylor³, Rachael Rowley², Elizabeth Rainone², Avery LaChance², Rachel Gate⁴, ilya Korsunsky², Ruth Ann Vleugels⁵ and Kevin Wei⁶, ¹BWH, Cambridge, MA, ²Brigham and Women's Hospital, Boston, MA, ³Vanderbilt University Medical Center, Nashville, TN, ⁴10x Genomics, Pleasanton, CA, ⁵Brigham and Women's Hospital, Brookline, MA, ⁶Brigham and Women's Hospital at Harvard Medical School, Boston, MA
Background/Purpose: Reliable and effective treatments for refractory cutaneous lupus erythematosus (CLE) remained elusive until the arrival of anifrolumab, a monoclonal antibody targeting the type I…
Abstract Number: 0022 • ACR Convergence 2024
Transcriptomic Characterization of Knee Capsule Fibroblasts and Mesenchymal Stromal Cells Reveals an Association Between Flexion Contracture and Alterations in Immune Pathways in People with End-stage OA
Odette Laneuville¹, Daniel Stratis¹, Robert Feibel², Guy Trudel³ and T Mark Campbell⁴, ¹University of Ottawa, Ottawa, ON, Canada, ²The Ottawa Hospital, Ottawa, ON, Canada, ³Ottawa Hospital Research Institute, Ottawa, ON, Canada, ⁴Bruyère Research Institute, Ottawa, ON, Canada
Background/Purpose: Over 10% of adults have symptomatic knee OA but no disease-modifying interventions exist. A flexion contracture (loss of extension; FC) presents in 1/3 of…
Abstract Number: 0907 • ACR Convergence 2024
Association of Rare and Common Genetic Variants in MOCOS with Inadequate Response to Allopurinol
Niamh Fanning¹, Murray Cadzow², Ruth Topless³, Chris Frampton⁴, Nicola Dalbeth⁵, Tony Merriman⁶ and Lisa Stamp⁴, ¹University of Otago, Christchurch, New Zealand, ²University of Otago, Dunedin 9054, New Zealand, ³University of Otago, Dunedin, New Zealand, ⁴University of Otago, Christchurch, Christchurch, New Zealand, ⁵University of Auckland, Auckland, New Zealand, ⁶University of Alabama at Birmingham, Homewood, AL
Background/Purpose: The minor allele of the common rs2231142 (Q141K) ABCG2 variant predicts inadequate response to allopurinol urate lowering therapy (ULT). We hypothesize that additional variants in genes…

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