Abstracts tagged "Gene Expression"

Abstract Number: 1821 • ACR Convergence 2025
Transcriptiomics of tear RNA from children with active and inactive chronic anterior uveitis
Donna Do¹, Brandon Michalidas², Mariia Pavlenko³, Alexandra Duell², Sheila Angeles-Han⁴ and Grant Schulert², ¹Cincinnati Children's Hospital Medical Center, Division of Rheumatology, Cincinnati, OH, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Cincinnati Children`s Hospital Medical Center, Cincinnati, OH, ⁴Cincinnati Children's Hospital, Cincinnati, OH
Background/Purpose: Chronic anterior uveitis (CAU) is a potentially sight-limiting complication of pediatric rheumatic diseases, including juvenile idiopathic arthritis. However, the underlying inflammatory biology of CAU…
Abstract Number: 0823 • ACR Convergence 2025
Longitudinal model of paired peripheral blood CITE-seq and skin scRNA-seq data in juvenile systemic sclerosis (jSSc) patients following autologous stem cell transplant (ASCT) reveals reduced expression of SSc marker genes
Julia Elrod¹, Theresa hutchins², Anwesha Sanyal², Paul Szabolcs², Paulina Horvei², Jon Li², F. William Townes¹ and Kathryn Torok², ¹Carnegie Mellon, Pittsburgh, PA, ²University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Juvenile systemic sclerosis (jSSc) is a rare, life-threatening autoimmune disease characterized by fibrosis and immune dysregulation. Autologous stem cell transplant (ASCT) is an emerging…
Abstract Number: 1819 • ACR Convergence 2025
Spatial Transcriptomic Profiling Reveals Interferon Activation and CD8⁺ T Cell Dominance in Systemic Juvenile Idiopathic Arthritis-Macrophage Activation Syndrome Liver Inflammation
Esraa Eloseily¹, Taskin Sabit², Lara Berklite³, Grant Schulert⁴ and Alexei Grom⁴, ¹UT Southwestern Children's Medical Center, Dallas, TX, ²Cincinnati Children's Hospital Medical Center, Division of Rheumatology, Cincinnati, OH, ³Cincinnati Children's Hospital, Cincinnati, OH, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) with macrophage activation syndrome (MAS) involves severe systemic inflammation and hepatocellular injury. Our prior histopathology studies showed increased CD8⁺…
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: 1816 • ACR Convergence 2025
Single-Cell RNA-Transcriptomics of JDM Skin Identifies JDM-Associated Immune Cell Populations and Dysregulated Interferon Signaling in Immune and Endothelial Cells
Chioma Madubata¹, Jessica Neely², Christine Goudsmit³, Celine Berthier⁴, Zilan Zheng⁵, Sophia Matossian⁴, Jeffrey Dvergsten⁶, Andrew Heaton⁷, J. Michelle Kahlenberg⁴, Gabrielle Fragiadakis⁸ and Jessica Turnier⁹, ¹UCSF, SF, CA, ²UCSF, San Francisco, CA, ³University of Michigan, Ann Arbor, ⁴University of Michigan, Ann Arbor, MI, ⁵University of California, San Francisco, San Francisco, CA, ⁶Duke University Hospital, Hillsborough, NC, ⁷Cure JM Foundation, Anthony, FL, ⁸UCSF, San Francisco, ⁹University of Michigan, Saline, MI
Background/Purpose: Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children. JDM often presents with rash, and skin inflammation is more refractory to…
Abstract Number: 0797 • ACR Convergence 2025
Spatial transcriptomics identifies density-sensing fibroblasts in synovial lining
Sonia Presti¹, Kseniia Anufrieva², Ce Gao³, Sean Prell², Philip Blazar², Jeffrey Lange², Morgan Jones², Mihir Wechalekar⁴, Michael Brenner², Ilya Korsunsky⁵, Shideh Kazerounian² and Kevin Wei⁶, ¹Standford University, Stanford, ²Mass General Brigham, Boston, ³Division of Rheumatology, Inflammation and Immunity, DOM, BWH; Harvard Medical School, Boston, MA, ⁴Flinders Medical Centre, Adelaide, Australia, ⁵Division of Rheumatology, Inflammation and Immunity, DOM, BWH; Division of Genetics, DOM, BWH; Harvard Medical School, Boston, MA, ⁶Brigham and Women's Hospital at Harvard Medical School, Boston, MA
Background/Purpose: The synovial lining is crucial for joint homeostasis, forming a barrier and producing lubricants through specialized fibroblasts. These fibroblasts differ from sublining fibroblasts, which…
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: 1812 • ACR Convergence 2025
Inflammasome and UPR activation in monocytes of HLA B27 positive children with Enthesitis related arthritis category of JIA
Shivika Guleria¹ and Amita Aggarwal², ¹SGPGIMS, Lucknow, Lucknow, Uttar Pradesh, India, ²Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, Lucknow, Uttar Pradesh, India
Background/Purpose: Enthesitis related arthritis (ERA) is a chronic immune-inflammatory disease with unknown etiology. HLA-B27 is the strongest risk factor predisposing to ERA like Spondyloarthritis (SpA).…
Abstract Number: 0782 • ACR Convergence 2025
Expansion of T-bet⁺ Age-Associated B Cells Is Associated with Clinical Complications in Still’s Disease
Krisztian Csomos¹, Boglarka Ujhazi¹, Mariana Correia Marques², Emily Rosenbaum¹ and Michael Ombrello³, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), NIH, Bethesda, MD, ²Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD
Background/Purpose: Still’s disease is a rare and severe autoinflammatory disorder characterized by daily spiking fevers, arthritis, an evanescent rash, and prominent systemic features, including lymphadenopathy,…
Abstract Number: 2648 • ACR Convergence 2025
Transcriptome analysis of quiescent SLE cases uncovers dysregulated pathways associated with disease flares
Lorenzo Beretta¹, Guillermo Barturen², Torsten Witte³, Ignasi Rodriguez-Pinto⁴, Ricard Cervera⁵, Rafaela Ortega-Castro⁶, Falk Hiepe⁷, László Kovacs⁸, Bohacsi Virag⁸, Raquel Faria⁹, Dionysis Nikolopoulos¹⁰, Barbara Vigone¹¹, Marta Alarcon-Riquelme¹² and Ioannis Parodis¹³, ¹Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di MIlano, Milan, Milan, Italy, ²Center for Genomics and Oncological Research (GENYO), Andalusia, Spain, ³Dept of Rheumatology and Immunology, Hannover, Niedersachsen, Germany, ⁴HospitalClínic, Institut d'Investigacions Biomediques August Pi i Sunye, Department of Autoimmune Diseases, Barcelona, Spain, ⁵Hospital Clinic Barcelona, Barcelona, Spain, ⁶Rheumatology service/Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, Spain, Cordoba, Andalucia, Spain, ⁷Charité - Universitétsmedizin Berlin, Berlin, Germany, ⁸University of Szeged, Department of Rheumatology and Immunology, Faculty of Medicine, Szeged, Hungary, ⁹UIC, Porto, Portugal, ¹⁰Karolinska Institutet and Karolinska University Hospital, Division of Rheumatology, Department of Medicine Solna, Stockholm, Sweden, ¹¹Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Referral Center for Systemic Autoimmune Diseases, Milano, Italy, ¹²Fundación Progreso y Salud, Andalusian Government, Granada, Spain, ¹³Karolinska Institutet and Karolinska University Hospital, Department of Medicine Solna, Division of Rheumatology, Stockholm, Sweden
Background/Purpose: Unpredictability is a major challenge in systemic lupus erythematosus (SLE). Routinely used clinical and laboratory parameters fail to predict the risk of and time…
Abstract Number: 1788 • ACR Convergence 2025
Manganese-associated Single-nucleotide Polymorphisms are Associated with Radiographic Knee Osteoarthritis: The Johnston County Osteoarthritis Project
Griffin Sonaty¹, Carolina Alvarez², Liubov Arbeeva³, Joanne Jordan¹, Brian Diekman⁴, Doug Phanstiel¹, Richard Loeser⁵ and Amanda Nelson¹, ¹University of North Carolina at Chapel Hill, Chapel Hill, NC, ²University of North Carolina at Chapel Hill, Miami, FL, ³University of North Carolina, Chapel Hill, Carrboro, NC, ⁴Univesity of North Carolina at Chapel Hill, Chapel Hill, NC, ⁵University of North Carolina, Chapel Hill, NC
Background/Purpose: Trace elements may be differentially associated with osteoarthritis (OA) risk. Single-nucleotide polymorphisms (SNPs) have been found to correlate to cumulative exposure level, free of…
Abstract Number: 0320 • ACR Convergence 2025
Transcriptomic profiling of the skeletal muscle of knee OA patients uncovers elevated glucocorticoid and GABA signaling as mediators of skeletal muscle dysfunction in advanced disease
Gina Many¹, Tyler Mansfield², Tyler Sagendorf³, Daniel Evans², Sameneh Farsijani⁴, Bret Goodpaster⁵, Lauren Sparks⁵ and NANCY LANE⁶, ¹Pacific Northwest National Laboratory, Richland, WA, Richland, WA, ²California Pacific Medical Research Institute, San Francisco, CA, ³Pacific Northwest National Laboratory, Richland, WA, ⁴University of Pittsburgh, Pittsburgh, PA, ⁵Translational Research Institute, AventHealth, Orlando, FL, ⁶University of California at Davis, School of Medicine, Sacramento, CA
Background/Purpose: Age-related declines in muscle mass and function are leading causes for hospitalizations and mortality in elderly individuals. The risk of developing knee osteoarthritis also…
Abstract Number: 2585 • ACR Convergence 2025
The effect of prophylactic colchicine use on gene expression in gout
Austin Wheeler¹, Guanqi Lu², Ana Vazquez³, Jeffrey Edberg⁴, Angelo Gaffo⁵, Tate Johnson¹, Michael Duryee¹, James O'Dell¹, Jeff Newcomb¹, Michael Pillinger⁶, Robert Terkeltaub⁷, Ryan Ferguson⁸, Mary Brophy⁸, Tuhina Neogi⁹, Bryant England¹, Ted Mikuls¹, Tony Merriman¹⁰ and Richard Reynolds⁴, ¹University of Nebraska Medical Center, Omaha, NE, ²Michigan State University, East Lansing, MI, ³Michigan State University, Miami, FL, ⁴University of Alabama at Birmingham, Birmingham, AL, ⁵Division of Rheumatology and Clinical Immunology, University of Alabama, Birmingham, AL, USA; Birmingham VA Medical Center, Birmingham, AL, USA, Birmingham, AL, ⁶New York University Grossman School of Medicine, New York,, NY, ⁷Retired, San Diego, CA, ⁸VA Cooperative Studies Program Coordinating Center, Boston, MA, ⁹Boston University School of Medicine, Boston, MA, ¹⁰University of Alabama at Birmingham, Homewood, AL
Background/Purpose: Colchicine is recommended for the treatment and prophylaxis of gout flares and approved for secondary prevention of ischemic cardiovascular disease (CVD). While its primary…
Abstract Number: 1778 • ACR Convergence 2025
Towards an Earlier and Accurate Diagnosis of Connective Tissue Disease-related Interstitial Lung Disease: TGFB Isoform Genes as Upcoming Biomarkers
Verónica Pulito Cueto¹, Joao Carlos Batista-Liz¹, Rebeca Nieto-Nieto², Clara Vaquera-Illescas², Diego San Emeterio-Villar², Daniel Vicente-Mínguez², María Sebastián Mora-Gil², Belén Atienza-mateo³, Ana Serrano-Combarro⁴, David Iturbe-Fernández⁵, Victor M. Mora-Cuesta⁵, Carolina Aguirre-Portilla⁴, Jose M Cifrián⁵, Ricardo Blanco⁴ and Raquel Lopez Mejias¹, ¹IDIVAL, Santander, Spain, ²Immunopathology Group, IDIVAL, Santander, Spain, ³Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander , Spain, PALMA DE MALLORCA/BALEARES, Spain, ⁴Immunopathology Group, IDIVAL and Division of Rheumatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain, ⁵Immunopathology Group, IDIVAL and Division of Pneumology, Hospital Universitario Marqués de Valdecilla, Santander, Spain
Background/Purpose: Interstitial lung disease (ILD) is one of the leading cause of mortality in patients with connective tissue diseases (CTDs) [1]. The onset of CTD-ILD…
Abstract Number: 0316 • ACR Convergence 2025
Increased Synovial Inflammation, Xist Escape Gene Expression and Knee Pain in Females with Osteoarthritis
Bella Mehta¹, Miguel Otero², Michael Mazzucco³, Jenelys Ruiz-Ortega⁴, Caryn Hale⁴, Fuadur Omi⁴, Syed Henah Balkhi⁵, Purva Singh³, Samantha Lessard³, Wei Wang⁴, Maryam Aslam⁴, Tristan Maerz⁶, Peter Sculco³, Anne-Marie Malfait⁷, Xiaoshun Li⁸, Yiyuan Wu⁹, Shady Younis¹⁰, William Robinson¹¹, Daniel Ramirez¹², Edward DiCarlo¹² and Dana Orange⁵, ¹Hospital for Special Surgery, Weill Cornell Medicine, Jersey City, NJ, ²Hospital For Special Surgery, New York, ³Hospital For Special Surgery, New York, NY, ⁴The Rockefeller University, New York, ⁵The Rockefeller University, New York, NY, ⁶University of Michigan, Ann Arbor, MI, ⁷Rush University Medical Center, Chicago, ⁸Hospital For Special Surgery, Ridgewood, NY, ⁹Weill Cornell Medicine, New York, NY, ¹⁰Stanford University, Stanford, CA, ¹¹Stanford University, Palo Alto, CA, ¹²Hospital for Special Surgery, Weill Cornell Medicine, New York, NY
Background/Purpose: MRI evidence of synovitis and bone marrow lesions, but not cartilage degeneration associate with pain in osteoarthritis (OA). In this work, we integrated clinical,…

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