Abstracts tagged "Bioinformatics"

Abstract Number: 1568 • ACR Convergence 2025
A Novel Endothelial Cell Profiling Assay to Identify Systemic Sclerosis Patient Characteristics at the Endothelial Cell Level
Eva Hoekstra¹, Rudmer Postma¹, Nils Steinz², Wieke van Oostveen¹, Roel Bijkerk¹, Vincent van Duinen², Rachel Knevel², Tom Huizinga², Anton jan van Zonneveld¹, Jeska de Vries-Bouwstra² and Cynthia Fehres¹, ¹Leiden University Medical Center, Leiden, Zuid-Holland, Netherlands, ²Leiden University Medical Center, Leiden, Netherlands
Background/Purpose: Vasculopathy, a hallmark clinical feature in systemic sclerosis (SSc), is a consequence of endothelial cell (EC) damage and dysfunction and might precede tissue fibrosis.…
Abstract Number: 0878 • ACR Convergence 2025
Effects of IL-17A Inhibition on Entheseal Osteoblast and Fibroblast Dynamics in Psoriatic Arthritis: Insights from the EBIO Biopsy Study
Maria Gabriella Raimondo¹, Hashem Mohammadian², Simon Rauber³, Stefano Alivernini⁴, Filippo Fagni⁵, Giulia Corte⁶, Koray Tascilar⁷, Alina Mihaela Ramming⁸, Juergen Rech², Maria Antonietta D´Agostino⁹, Georg Schett², Milena Pachowsky⁸, Arnd Kleyer¹⁰ and Andreas Ramming¹¹, ¹Department of Medicine ³ - Rheumatology and Immunology, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg and Uniklinikum Erlangen, Erlangen, Germany, ²Uniklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Germany, Erlangen, Germany, ³Uniklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Germany, Erlangen, Bayern, Germany, ⁴Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy, ⁵Department of Medicine ³ - Rheumatology and Immunology, Friedrich-Alexander-Universität Erlangen-Nürnberg and University Hospital Erlangen, Erlangen, Bayern, Germany, ⁶- Department of Medicine ³ - Rheumatology and Immunology, Friedrich-Alexander-Universität Erlangen-Nürnberg and Uniklinikum Erlangen, Erlangen, Germany, Erlangen, Germany, ⁷Department of Medicine ³ - Rheumatology and Immunology, Friedrich-Alexander-Universität Erlangen-Nürnberg and University Hospital Erlangen, Erlangen, Germany, ⁸Department of Internal Medicine ³ – Rheumatology and Immunology, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg and Universitätsklinikum Erlangen, Erlangen, Germany, ⁹⁴Division of Rheumatology - Fondazione Policlinico Universitario A. Gemelli IRCCS - Università Cattolica del Sacro Cuore, Rome, Italy, ¹⁰Department of Rheumatology and Clinical Immunology, Charité - Universitätsmedizin Berlin, Berlin, Germany, Berlin, Germany, ¹¹Department of Internal Medicine ³, Rheumatology & Immunology, Friedrich-Alexander-University (FAU) & Universitätsklinikum Erlangen, Erlangen, Germany
Background/Purpose: Enthesitis is an early event in the course of psoriatic arthritis (PsA) and a hallmark feature of the disease. Currently, much of the understanding…
Abstract Number: 0024 • ACR Convergence 2025
Biobank-scale genetic mapping identifies the shared genetic landscape of rheumatic and cardiovascular disease
Daniel Panyard¹, Daniel Li², Pik Fang Kho², Rodrigo Guarischi-Sousa³, Jiayan Zhou², Austin Hilliard⁴, Christie Bartels⁵, Philip Tsao² and Themistocles Assimes², ¹Stanford University, Sunnyvale, CA, ²Stanford University, Palo Alto, CA, ³Palo Alto Veterans Institute for Research, Palo Alto, CA, ⁴VA Palo Alto Health Care, Palo Alto, CA, ⁵University of Wisconsin School of Medicine and Public Health, Madison, WI
Background/Purpose: Patients with rheumatic conditions are at increased risk for cardiovascular (CV) problems, striking on average a decade before peers and conferring substantial morbidity and…
Abstract Number: 1360 • ACR Convergence 2025
Evaluating Causal Effects of Biologic and Targeted Synthetic Disease-modifying Anti-rheumatic Drugs Targets in Rheumatoid Arthritis Using Mendelian Randomisation
Mihye Kwon¹, Chung-il Joung¹ and Young Soo Song², ¹Konyang University Hospital, Daejeon, Republic of Korea, ²Konyang University Hospital, Daejeon, Taejon-jikhalsi, Republic of Korea
Background/Purpose: Rheumatoid arthritis (RA) is a chronic autoimmune disease in which biologic and targeted synthetic DMARDs (bDMARDs, tsDMARDs) have substantially improved clinical outcomes. While randomized…
Abstract Number: 0856 • ACR Convergence 2025
Integrated Single-Cell and Spatial Transcriptomics Reveal Vascular and Immune Pathogenesis in APS Nephropathy
Shuyi Yu¹, Haoyu Pan¹, Jinyi Qian¹, Xiaohan Wei², Yuying Fan¹, Zhixia Yang¹, Shiyan Gu¹, Jianzhou Wu¹, Cenyi Wang¹, Tiancheng Zhou¹ and Hui Shi³, ¹Department of Rheumatology and Immunology, Ruijin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China, Shanghai, Shanghai, China (People's Republic), ²Shanghai JiaoTong University, Shanghai, China (People's Republic), ³Shanghai Jiaotong University Affiliated Ruijin Hospital, Shanghai, China (People's Republic)
Background/Purpose: To elucidate the molecular and cellular mechanisms underlying antiphospholipid antibody (aPL) nephropathy using integrated single-cell and spatial transcriptomic (SP) profiling of kidney tissues.Methods: Renal…
Abstract Number: 0020 • ACR Convergence 2025
Bulk RNA-sequencing of Leukocytoclastic Vasculitis Skin Biopsies Show Upregulation of Leukocyte Migration Genes
Anne Carlton, Lam Tsoi, Joseph Kirma, Jennifer Fox, Paul Harms and Johann Gudjonsson, University of Michigan, Ann Arbor, MI
Background/Purpose: Vasculitis encompasses multiple conditions united by end-organ damage due to an immune-mediated reaction against the vasculature. Leukocytoclastic vasculitis (LCV) is a subtype of cutaneous…
Abstract Number: 1315 • ACR Convergence 2025
High-resolution thermography and Artificial Intelligence to evaluate and classify Rheumatoid Arthritis
Kale Mayor¹, Joey Mercier¹, Yuxi Long², David Robinson¹, Pingzhao Hu², Hani El-Gabalawy¹ and Liam O'Neil¹, ¹University of Manitoba, Winnipeg, MB, Canada, ²Western University, London, ON, Canada
Background/Purpose: Rheumatoid arthritis (RA) is an autoimmune polyarthritis that typically affects the small joints of the hands and feet. While imaging modalities such as ultrasound…
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: 0019 • ACR Convergence 2025
Single cell characterization of the circulating immune system in Sjögren’s Syndrome
Alejandro Gómez Gómez¹, Héctor Corominas², Rosario Garcia Vicuña³, Mercedes Freire González⁴, Sheila Melchor-Díaz⁵, Paloma Vela Casasempere⁶, Paula Estrada-Alarcón⁷, Jose Luis Tandaipan⁸, Monica Fernandez Castro⁹, Sara Maria Rojas Herrera¹⁰, Marina Rodríguez López¹¹, Beatriz Paredes-Romero¹², Santiago Muñoz¹³, Marta López¹⁴, Ignacio Braña¹⁵, Gema Bonilla¹⁶, Raúl Menor Almagro¹⁷, Sara Manrique-Arija¹⁸, Mª Angeles Blazquez Cañamero¹⁹, Lilian López-Núñez²⁰, Carles Galisteo Veiga²¹, Juan José Alegre-Sancho²², Jose Rosas Gómez de Salazar²³, Jose Javier Pérez Venegas²⁴, Judit Font-Urgelles²⁵, José Andrés Román Ivorra²⁶, José Miguel Sequí-Sabater²⁷, Rafaela Ortega-Castro²⁸, Clara Moriano²⁹, Guadalupe Manzano-Canabal³⁰, Cilia Peralta-Ginés³¹, Javier Narváez³², Rafael Cáliz-Cáliz³³, Javier Martínez-Ferrin³⁴, Lara Sánchez Bilbao³⁵, Belén Serrano-Benavente³⁶, Natalia Boix- Martí³⁷, Ares Selles-Rius³⁸, Maribel Pérez³⁹, Juan Cañete⁴⁰, Núria Palau Balaña³⁸, Damiana Alvarez Errico³⁹, Yolanda Guillén⁴¹, Juan Ángel Patiño Galindo⁴¹, Antonio Julià¹, Sara Marsal Barril⁴² and Jose Luis Andreu⁴³, ¹Vall d'Hebron Hospital Research Institute, Rheumatology Research Group, Barcelona, Spain, ²Hospital de la Santa Creu i Sant Pau, Rheumatology, Barcelona, Barcelona, Spain, ³Hospital Universitario de la Princesa, Madrid, Spain, ⁴⁴ Hospital Universitario A Coruña, Rheumatology, A Coruña, La coruna, Spain, ⁵Hospital Universitario ¹² de Octubre, Rheumatology, Madrid, Madrid, ⁶Hospital General Universitario Alicante, Alicante, Comunidad Valenciana, Spain, ⁷Hospital de San Juan Despí Moisès Broggi, Barcelona, Spain, ⁸Rheumatology. Hospital Universitario de la Santa Creu i Sant Pau, Barcelona, Spain, ⁹PUERTA DE HIERRO HOSPITAL, Madrid, Spain, ¹⁰Hospital de Mérida, Rheumatology, Badajoz, Badajoz, Spain, ¹¹Complejo Hospitalario Universitario de Santiago, Rheumatology, Santiago de Compostela., Santiago de Compostela, Spain, ¹²Hospital Universitario Infanta Sofía;Universidad Europea de Madrid. Faculty of Medicine, Health and Sports. Department of Medicine; FIIB HUIS-HUHEN, San Sebastian de los Reyes, Spain, ¹³Hospital Universitario Infanta Sofía;Universidad Europea de Madrid. Faculty of Medicine, Health and Sports. Department of Medicine; FIIB HUIS-HUHEN, Madrid, Spain, ¹⁴Complex Hospitalari Universitari Moisés Broggi, Barcelona, Spain, ¹⁵Hospital Universitario Central de Asturias, Oviedo, Spain, ¹⁶Hospital Universitario La Paz, Rheumatology, Madrid, Madrid, Spain, ¹⁷Department of Rheumatology, Hospital de Jerez, Spain, Puerto De Santa María, Spain, ¹⁸Hospital Regional Universitario Málaga, Malaga, Spain, ¹⁹Hospital Ramon y Cajal, Madrid, Spain, ²⁰Hospital Son Llatzer, Rheumatology, Palma de Mallorca, Palma de Mallorca, Spain, ²¹Hospital Parc Taulí, Rheumatology, Sabadell, Sabadell, Spain, ²²Hospital Universitario Doctor Peset, Valencia, Spain, ²³Hospital Marina Baixa, PALMA DE MALLORCA, Spain, ²⁴Virgen Macarena University Hospital, Sevilla, Spain, Sevilla, Spain, ²⁵Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ²⁶Hospital Universitari i Politècnic La Fe, Valencia, Spain, ²⁷Hospital Universitario La Fe (Valencia), Valencia, Spain, ²⁸Rheumatology service/Maimonides Institute for Research in Biomedicine of Cordoba (IMIBIC)/ Reina Sofia University Hospital/ University of Cordoba, Spain, Cordoba, Andalucia, Spain, ²⁹Hospital León, LEON, Castilla y Leon, Spain, ³⁰Hospital Virgen de la Concha (Zamora), Zamora, Spain, ³¹Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain, ³²Hospital Universitario de Bellvitge, Barcelona, Spain, ³³Hospital Universitario Virgen de las Nieves, Rheumatology, Granada, Granada, Spain, ³⁴Hospital Universitario Virgen de la Arrixaca, Rheumatology, Murcia, Murcia, Spain, ³⁵Rheumatology Division, Hospital Universitario Marqués de Valdecilla, IDIVAL, Immunopathology Group, Santander, Spain, Santander, Cantabria, Spain, ³⁶Hospital Gregorio Marañon, Madrid, Spain, ³⁷Hospital Univetsitari Vall d'Hebron, Rheumatology Department, Barcelona, Spain, ³⁸Rheumatology Research Group, Vall d'Hebron University Hospital, Barcelona, Spain, ³⁹IMIDomics, Barcelona, Barcelona, Spain, ⁴⁰Rheumatology Department, Hospital Clínic and IDIBAPS, Barcelona, Spain, Barcelona, Spain, ⁴¹IMIDomics, Barcelona, Spain, ⁴²Vall Hebron Hospital Research Institute, Barcelona, Spain, ⁴³Hospital Universitario Puerta de Hierro, Majadahonda, Spain
Background/Purpose: Sjögren’s syndrome (SS) is a chronic autoimmune disease characterized by the infiltration of circulating immune cells into the salivary and lacrimal glands. The properties…
Abstract Number: 1309 • ACR Convergence 2025
Transcriptomic biomarkers of progression from undifferentiated arthritis to rheumatoid arthritis
Christina Printzis¹, Keerthana Nagesh Prabhu², Regina Sakalyte³, Sigita Stropuviene³ and Damini Jawaheer¹, ¹Northwestern University, Chicago, IL, ²Washington University in St. Louis, St Louis, MO, ³Vilnius University, Faculty of Medicine, Institute of Clinical Medicine, Clinic of Rheumatology, Orthopedics Traumatology and Reconstructive Surgery, Vilnius, Lithuania
Background/Purpose: A broad range (6-55%) of patients classified as having undifferentiated arthritis (UA) tend to progress to rheumatoid arthritis (RA), suggesting that UA in these…
Abstract Number: 0808 • ACR Convergence 2025
Spatial Transcriptomics Show Fibroblast LIF Receptor Drives Fibrosis in Systemic Sclerosis
Mari Kamiya¹, Hung Nguyen¹, Miles Tran², Ce Gao³, Sergio Poli¹, Yunju Jeong⁴, Louis Merriam⁵, Jinjun Shi⁶, Rachel Knipe⁷, Katharine Black⁸, Lida Hariri⁹, Carol Feghali-Bostwick¹⁰, Rodney Infante¹¹, Janelle Pugashetti¹², Justin Oldham¹², Ilya Korsunsky¹³, Kevin Wei¹⁴ and Edy Kim¹, ¹Division of Pulmonary and Critical Care Medicine, Department of Medicine (DOM), Brigham and Women's Hospital (BWH); Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³Division of Rheumatology, Inflammation and Immunity, DOM, BWH; Harvard Medical School, Boston, MA, ⁴Division of Pulmonary and Critical Care Medicine, Department of Medicine (DOM), Brigham and Women's Hospital (BWH), Harvard Medical School, Boston, MA, United States; Department of Food and Nutrition, College of Human Ecology, Kyung Hee University, Seoul, Republic of Korea, ⁵Division of Pulmonary and Critical Care Medicine, Department of Medicine (DOM), Brigham and Women's Hospital (BWH), Boston, MA, ⁶Center for Nanomedicine and Department of Anesthesiology, Perioperative and Pain Medicine, Brigham and Women's Hospital (BWH); Harvard Medical School, Boston, MA, ⁷Division of Pulmonary and Critical Care Medicine, DOM, Massachusetts General Hospital; Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital; Harvard Medical School, Boston, MA, ⁸Division of Pulmonary and Critical Care Medicine, DOM, Massachusetts General Hospital; Harvard Medical School, Boston, MA, ⁹Department of Pathology, Massachusetts General Hospital; Division of Pulmonary and Critical Care Medicine, DOM, Massachusetts General Hospital; Harvard Medical School, Boston, MA, ¹⁰Medical University of South Carolina, Charleston, SC, ¹¹Center for Human Nutrition, Dept. of Molecular Genetics, DOM, University of Texas Southwestern, Dallas, TX, ¹²Division of Pulmonary and Critical Care Medicine, University of Michigan, Ann Arbor, MI, ¹³Division of Rheumatology, Inflammation and Immunity, DOM, BWH; Division of Genetics, DOM, BWH; Harvard Medical School, Boston, MA, ¹⁴Brigham and Women's Hospital at Harvard Medical School, Boston, MA
Background/Purpose: Systemic sclerosis (SSc) is an autoimmune, fibroinflammatory disease of skin and visceral organs. Current SSc therapies have limited efficacy for progressive fibrosis. Our prior…
Abstract Number: 2114 • ACR Convergence 2025
Development of a Fracture Prediction Model for Patients Aging with HIV
Evelyn Hsieh¹, Terrence E. Murphy², Baylah Tessier-Sherman³, Linda Leo-Summers³, Farah Kidwai-Khan⁴, Samah Fodeh⁵, Rixin Wang⁶, Barbara Gulanski³, Michael T. Yin⁷, Melissa Skanderson⁸, Cynthia Brandt⁹, Amy C. Justice⁴ and Julie Womack¹⁰, ¹Section of Rheumatology, Allergy and Immunology, Yale School of Medicine / VA Connecticut Healthcare System, New Haven, CT, ²Department of Public Health Sciences, Pennsylvania State University College of Medicine, Hershey, PA, ³Department of Internal Medicine, Yale School of Medicine, New Haven, CT, ⁴Department of Internal Medicine, Yale School of Medicine / VA Connecticut Healthcare System, New Haven, CT, ⁵Department of Emergency Medicine, Yale School of Medicine, New Haven, CT, ⁶Department of Biomedical Informatics & Data Science, Yale School of Medicine, New Haven, CT, ⁷Columbia University Irving Medical Center, New York, NY, ⁸VA Connecticut Healthcare System, West Haven, CT, ⁹Department of Biomedical Informatics & Data Science, Yale School of Medicine / VA Connecticut Healthcare System, New Haven, CT, ¹⁰Yale School of Nursing / VA Connecticut Healthcare System, Orange, CT
Background/Purpose: Fragility fractures are a critical outcome for people ageing with HIV (PAH). Studies demonstrate higher prevalence, incidence, and earlier onset than for the general…
Abstract Number: 2666 • ACR Convergence 2025
Rare TNFAIP3 Hypomorphic Variants are a Massively Underestimated Driver of Human Autoinflammatory Disease
Danica Lee¹, Urekha Karri², Yiming Luo³, Kader Cetin Gedik⁴, Manuel Carpio Tumba⁵, Prabal Chhibbar⁶, Priyamvada Roy⁶, Guido Falduto⁷, Jishnu Das⁵ and Daniella Schwartz⁵, ¹University of Pittsburgh School of Medicine, Pittsburgh, PA, ²School of public health, Pittsburgh, PA, ³Columbia University, New York, NY, ⁴UPMC Children's Hospital of Pittsburgh/University of Pittsburgh, Pittsburgh, PA, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶University of Pittsburgh School of Medicine, Pittsburgh, ⁷University of Pittsburgh Medical Center, Pittsburgh, PA
Background/Purpose: TNFAIP3 encodes the ubiquitin editing enzyme A20, which inhibits multiple proinflammatory signaling pathways. Heterozygous germline mutations in TNFAIP3 cause the autoinflammatory disease Haploinsufficiency of…
Abstract Number: 1303 • ACR Convergence 2025
Impact of Fruits and Vegetables Intake on Immune-mediated Inflammatory Diseases：a Two-sample Mendelian Randomization Study
Xuemei Tang, Yuting Zhou, Yuxiao Chen, Xinglin Wu and Qiang Luo, Department of Rheumatology and Immunology, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing, China, Chongqing, China (People's Republic)
Background/Purpose: A balanced diet can prevent diseases and promote physical and mental health. Accumulating evidence shows that fruits and vegetables (F&Vs) intake is associated with…
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…

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