Abstracts tagged "Bioinformatics"

Abstract Number: 0869 • ACR Convergence 2024
Deciphering Pathogenic Phenotypes by Multi-modal Deep Single-cell Blood Immunophenotyping in Individuals At-risk for Rheumatoid Arthritis
Jun Inamo¹, Joshua Keegan², Alec Griffith², Tusharkanti Ghosh¹, Alice Horisberger², Kaitlyn Howard², John Pulford², Ekaterina Murzin², Brandon Hancock², Thomas Eisenhaure³, Salina Dominguez⁴, Miranda Gurra⁵, Siddarth Gurajala³, Anna Helena Jonsson¹, Jennifer Seifert⁶, Marie Feser⁷, Jill Norris⁸, Ye Cao², William Apruzzese⁹, S. Louis Bridges¹⁰, Vivian Bykerk¹¹, Susan Goodman¹², Laura Donlin¹¹, Gary S. Firestein¹³, Joan Bathon¹⁴, Laura B. Hughes¹⁵, Darren Tabechian¹⁶, Andrew Filer¹⁷, Costantino Pitzalis¹⁸, Jennifer Anolik¹⁹, Larry Moreland²⁰, Nir Hacohen²¹, Joel Guthridge²², Judith James²², Carla Cuda⁵, Harris Perlman⁵, Michael B. Brenner², Soumya Raychaudhuri²³, Jeffrey Sparks²⁴, Michael Holers⁷, Kevin Deane²⁵, James A. Lederer²⁶, Deepak Rao²⁶ and Fan Zhang²⁷, and the Accelerating Medicines Partnership RA/SLE Network, ¹University of Colorado School of Medicine, Aurora, CO, ²Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ³Broad Institute of MIT and Harvard, Cambridge, ⁴Northwestern University, Chicago, ⁵Northwestern University, Chicago, IL, ⁶University of Colorado and Oklahoma Medical Research Foundation, Aurora, CO, ⁷Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ⁸Colorado School of Public Health, Denver, CO, ⁹Accelerating Medicines Partnership® Program: Rheumatoid Arthritis and Systemic Lupus Erythematosus (AMP® RA/SLE) Network, Boston, MA, ¹⁰Division of Rheumatology, Weill Cornell Medical College, New York, NY, ¹¹Hospital For Special Surgery, New York, NY, ¹²Hospital for Special Surgery, New York 10025, NY, ¹³University of California, San Diego, La Jolla, ¹⁴Columbia University, New York, NY, ¹⁵University of Alabama at Birmingham Medicine, Birmingham, AL, ¹⁶University of Rochester Medical Center, Rochester, ¹⁷Rheumatology Research Group, Institute for Inflammation and Ageing, NIHR Birmingham Biomedical Research Center and Clinical Research Facility, University of Birmingham, Birmingham, United Kingdom, ¹⁸QMUL, Bromley Kent, United Kingdom, ¹⁹University of Rochester Medical Center, Rochester, NY, ²⁰University of Colorado, Denver, CO, ²¹Broad Institute of MIT and Harvard, Boston, MA, ²²Oklahoma Medical Research Foundation, Oklahoma City, OK, ²³Brigham and Women's Hospital, Boston, MA, ²⁴Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA, Boston, MA, ²⁵University of Colorado Denver Anschutz Medical Campus, Aurora, CO, ²⁶Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²⁷University of Colorado, Aurora, CO
Background/Purpose: Rheumatoid arthritis (RA) is a systemic autoimmune disease with currently no effective prevention strategies. Single-cell technologies have been recently used to investigate established RA…
Abstract Number: 1712 • ACR Convergence 2024
Transcriptome Analysis Characterizes the Role of Monocytes in Ankylosing Spondylitis with TNF-blocker Treatment
Yulong Tang¹, Jiangnan Xie², Dachun Zhuo¹, Qi ZHU³, Jiucun Wang¹ and Jing Liu², ¹Fudan University, Shanghai, China (People's Republic), ²Fudan University, Shanghai, Shanghai, China (People's Republic), ³Shanghai Guanghua Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai, China (People's Republic)
Background/Purpose: Ankylosing spondylitis (AS) is an autoimmune and auto-inflammatory disease characterized by chronic inflammation of the spine, sacroiliac joint, and occasionally peripheral joints. TNF-α inhibitor…
Abstract Number: 2280 • ACR Convergence 2024
Development of a Blood-based Cell-free DNA Classifier Assay to Predict Biologic and Targeted Synthetic DMARDs Response in Rheumatoid Arthritis Patients (PRIMA-102)
Peter C. Taylor¹, Kevin Lai², Hsin-Ta Wu², Jason Carlson², Diana Abdueva³, Signe Fransen⁴, Alan Kivitz⁵, Gordon Lam⁶ and David Chernoff⁷, ¹University of Oxford, Oxford, United Kingdom, ²Aqtual Inc, Hayward, CA, ³Aqtual Inc., Hayward, CA, ⁴Aqtual Inc., sf, CA, ⁵Altoona Center for Clinical Research, Duncansville, PA, ⁶Arthritis and Osteoporosis Consultants of the Carolinas, Cornelius, NC, ⁷SetPoint Medical, Sausalito, CA
Background/Purpose: Matching most beneficial targeted therapy to rheumatoid arthritis (RA) patients with inadequate response or intolerance to current treatment is an important unmet clinical need. The…
Abstract Number: 0113 • ACR Convergence 2024
Plasma Proteomics Analysis Identifies Thromboinflammatory Signature Associated with Clinical Antiphospholipid Syndrome: Results from Antiphospholipid Syndrome Alliance for Clinical Trials and International Networking (APS ACTION) Registry
Alexander Pine¹, Vittorio Pengo², Savino Sciascia³, Nina Kello⁴, Rosario Lopez Pedrera⁵, H Michael Belmont⁶, David Branch⁷, Laura Andreoli⁸, Michelle Petri⁹, Ricard Cervera¹⁰, Jason Knight¹¹, Pierluigi Meroni¹², Hannah Cohen¹³, Rohan Willis¹⁴, Maria Laura Bertolaccini¹⁵, Alfred Lee¹⁶, Doruk Erkan¹⁷ and Anish Sharda¹⁶, ¹Yale School of Medicine/VA Connecticut, West Haven, CT, ²Thrombosis Research Laboratory, Department of Cardio-Thoracic-Vascular Sciences and Public Health, University of Padova, Padova, Italy, ³University of Turin, Torino, Turin, Italy, ⁴Northwell Health, Brooklyn, NY, ⁵IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ⁶NYU School of Medicine, New York, NY, ⁷University of Utah and Intermountain Healthcare, Salt Lake City, UT, ⁸University of Brescia, Brescia, Italy, ⁹Johns Hopkins University School of Medicine, Timonium, MD, ¹⁰Hospital Clinic de Barcelona, Barcelona, Spain, ¹¹University of Michigan, Ann Arbor, MI, ¹²IRCCS Istituto Auxologico Italiano 100%, Cusano Milanino, Milan, Milan, Italy, ¹³University College London Hospitals NHS Foundation Trust, London, United Kingdom, ¹⁴University of Texas Medical Branch, Galveston, TX, ¹⁵King's College London, London, United Kingdom, ¹⁶Yale School of Medicine, New Haven, CT, ¹⁷Hospital for Special Surgery, New York, NY
Background/Purpose: Antiphospholipid syndrome (APS) is an autoimmune disease with thromboembolic and obstetric morbidity arising via a model of immunothrombosis. Patients may present with thrombotic (tAPS),…
Abstract Number: 0889 • ACR Convergence 2024
Unraveling the Progression of Sjögren’s Disease at the Cellular and Histological Level Using Single-cell and Spatial Transcriptomics
Tomás Gomes¹, Matilde Bandeira², Rui do Amaral Vieira¹, Bianca Correia¹, Sofia Barreira³, Pedro Gaspar⁴, Rita Cruz-Machado⁵, Beatriz Filipe¹, Pedro Ávila-Ribeiro¹, Filipa Ribeiro¹, Bruno Vidal¹, Beatriz Val¹, Filipa Costa⁶, Ana Teodósio Chícharo⁷, Augusto Silva¹, Manuel Silvério-Antonio¹, João Forjaz Lacerda¹, João Eurico Fonseca¹, Dolores López Presa⁸, Nikita Khmelinskii¹, Saumya Kumar⁹, Luis Graca¹ and Vasco C. Romão¹⁰, ¹Instituto de Medicina Molecular (iMM Lisboa), Lisboa, Portugal, ²Centro Hospitalar Universitario Lisboa Norte, Lisboa, Portugal, ³Unidade Local de Saúde Santa Maria, Serviço de Reumatologia e Doenças Ósseas Metabólicas, Lisboa, Portugal, Lisbon, Portugal, ⁴Internal Medicine Department, Hospital Santa Maria, Unidade Local de Saúde Santa Maria, Lisbon, Portugal, Povoa de Santa Iria, Portugal, ⁵Unidade Local de Saúde Santa Maria, Serviço de Reumatologia e Doenças Ósseas Metabólicas, Lisboa, Portugal, Lisboa, Portugal, ⁶Rheumatology Department, Unidade Local de Saúde de Santa Maria. Rheumatology Research Unit, Instituto de Medicina Molecular João Lobo Antunes, Lisbon, Portugal, ⁷Unidade Local de Saúde do Algarve, Hospital de Faro, Faro, Portugal, Faro, Portugal, ⁸Pathology Department, Unidade Local de Saúde de Santa Maria, Lisbon Academic Medical Centre, Lisboa, Portugal, ⁹TWINCORE, a joint venture between the Helmholtz-Centre for Infection Research (HZI) and the Hannover Medical School (MHH), Hannover, Germany, Hannover, Germany, ¹⁰Rheumatology Department, ULS Santa Maria & Rheumatology Research Unit, Instituto Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
Background/Purpose: Sjögren’s Disease (SjD) is a systemic autoimmune disease that primarily targets salivary and lacrimal glands, causing tissue deterioration and loss of function. Disease progression…
Abstract Number: 1763 • ACR Convergence 2024
Circulating NK and CD8+ Cytotoxic T Cells in Treatment Naïve JDM Demonstrate Higher Cytotoxic and Interferon Signature as Compared to Childhood-Onset SLE
Qinmengge Li¹, Celine Berthier¹, Christine Goudsmit¹, Sophia Matossian¹, Rachael Wasikowski², Johann Gudjonsson¹, J. Michelle Kahlenberg¹, Lam C. Tsoi² and Jessica Turnier³, ¹University of Michigan, Ann Arbor, MI, ²Michigan, Dept. of Dermatology, Ann Arbor, MI, ³University of Michigan, Saline, MI
Background/Purpose: Juvenile dermatomyositis (JDM) and childhood-onset systemic lupus erythematosus (cSLE) are pediatric autoimmune diseases that can present with overlapping clinical features yet have unique tropism…
Abstract Number: 2326 • ACR Convergence 2024
Development and Evaluation of a Machine Learning Model for the Early Identification of Psoriatic Arthritis
Michael Dreyfuss¹, Dan Riesel², Guy Shalev², Benjamin Getz³, Or Ramni², Yonatan Jenudi⁴, Dimid Duchovny², Daniel Underberger⁵, Shlomit Steinberg-Koch², Douglas White⁶ and Elena Myasoedova⁷, ¹Predicta Med, Ramat Gan, Israel, ²Predicta Med Analytics Ltd., Ramat Gan, Israel, ³CTO, Ramat Gan, Israel, ⁴[email protected], Ramat Gan, Israel, ⁵Predicta Med Analytics Ltd., Bridgeport, CT, ⁶Gundersen Health System, Onalaska, WI, ⁷Mayo Clinic, Rochester, MN
Background/Purpose: Delays in diagnosis of psoriatic arthritis (PsA) are associated with indolent and non-specific signs and symptoms, and often result in physical impairment and poorer…
Abstract Number: 0125 • ACR Convergence 2024
Electronic Health Record Rule-Based Computable Phenotype of Antiphospholipid Syndrome
Emily Balczewski¹, Amala Ambati², Wenying Liang¹, Jacqueline Madison¹, Yu Zuo¹, Karandeep Singh³ and Jason Knight¹, ¹University of Michigan, Ann Arbor, MI, ²University of Michigan, Toledo, OH, ³University of California -- San Diego, San Diego, CA
Background/Purpose: Electronic health record (EHR) data provide a widely available, inexpensive, and information-rich tool that is underutilized in the research of rare diseases like antiphospholipid…
Abstract Number: 0893 • ACR Convergence 2024
Uncovering Common and Distinctive Molecular Profiles Between Early and Stablished Rheumatoid Arthritis Through Integrative Multi-omics Analysis and Its Association with Disease Status and Clinical Response
Ismael Sánchez Pareja¹, Carlos Perez-Sanchez¹, Dani Toro-Domínguez², Laura Muñoz-Barrera¹, Tomás Cerdó¹, Elena Moreno-Caño³, Rafaela Ortega-Castro⁴, Jerusalem Calvo Gutierrez⁵, María Lourdes Ladehesa-Pineda⁶, Concepción Aranda-Valera³, María Carmen Ábalos-Aguilera⁷, Christian Merlo-Ruiz⁷, Mª Angeles Aguirre-Zamorano⁸, Nuria Barbarroja¹, Marta Alarcon-Riquelme⁹, Alejandro Escudero-Contreras¹ and Chary Lopez-Pedrera⁶, ¹IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Spain, ²Fundación Progreso y Salud, Andalusian Government, Granada, ³IMIBIC/Reina Sofia Hospital/University of Cordoba, Córdoba, Andalucia, Spain, ⁴Hospital Reina Sofía, Cordoba, Andalucia, Spain, ⁵HU Reina Sofia, Cordoba, Spain, ⁶IMIBIC/Reina Sofia Hospital/University of Cordoba, Cordoba, Andalucia, Spain, ⁷IMIBIC/Reina Sofia Hospital/University of Cordoba, CÓRDOBA, Spain, ⁸IMIBIC/Reina Sofia Hospital/University of Cordoba, CÓRDOBA, Andalucia, Spain, ⁹Fundación Progreso y Salud, Andalusian Government, Granada, Spain
Background/Purpose: Characterize the molecular landscape of RA patients using a multi-omic approach encompassing transcriptomics and proteomics and assess its association with disease stage and therapeutic…
Abstract Number: 1769 • ACR Convergence 2024
Top Peripheral Blood Transcriptomic Gene Modules Reveal Functional Annotation and Correlation with Clinical Traits in Juvenile Dermatomyositis (JDM) and Myositis-Specific Autoantibody (MSA) Groups
Ujana Zajmi¹, Megan Darrell¹, Amy Kaneshiro¹, Adeline Chin¹, Adriana Jesus², Stephen Brooks¹, Raphaela Goldbach-Mansky², Lisa Rider³ and Hanna Kim⁴, ¹NIH/NIAMS, Bethesda, MD, ²NIH/NIAD, Bethesda, MD, ³NIEHS, NIH, Garrett Park, MD, ⁴National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
Background/Purpose: Myositis-specific autoantibody (MSA) subgroups define phenotypes associated with specific clinical traits and outcomes within JDM, a clinically heterogeneous autoimmune disease. The pathogenesis of JDM…
Abstract Number: 2534 • ACR Convergence 2024
Deciphering Complement-dependent Macrophage Phenotypes in Human Rheumatoid Arthritis Using Combined Computational-experimental Single-cell Omics
Juan Vargas¹, Ian Mantel², Jun Inamo³, Nirmal Banda¹, Anna Helena Jonsson³, Kevin Wei⁴, Deepak Rao⁵, Susan Goodman⁶, Kevin Deane⁷, Jennifer Seifert⁸, Jennifer Anolik⁹, Michael Brenner¹⁰, Soumya Raychaudhuri¹¹, Trent Woodruff¹², the Accelerating Medicines Partnership (AMP) RA/SLE Network¹³, Michael Holers¹⁴, Laura Donlin¹⁵ and Fan Zhang¹⁶, ¹The University of Colorado, Aurora, CO, ²WEILL CORNELL MEDICINE, New York, NY, ³University of Colorado School of Medicine, Aurora, CO, ⁴Brigham and Women's Hospital at Harvard Medical School, Boston, MA, ⁵Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁶Hospital for Special Surgery, New York 10025, NY, ⁷University of Colorado Denver Anschutz Medical Campus, Aurora, CO, ⁸University of Colorado and Oklahoma Medical Research Foundation, Aurora, CO, ⁹University of Rochester Medical Center, Rochester, NY, ¹⁰Brigham Women's Hospital, Boston, MA, ¹¹Brigham and Women's Hospital, Boston, MA, ¹²University of Queensland, Brisbane, Australia, ¹³AMP RA/SLE consortium, Aurora, CO, ¹⁴Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ¹⁵Hospital for Special Surgery, New York, NY, ¹⁶University of Colorado, Aurora, CO
Background/Purpose: The complement system is a major component of innate immunity and plays a vital role in experimental models of autoimmune disease pathogenesis. In patients…
Abstract Number: 0126 • ACR Convergence 2024
Underdiagnosis Prediction Fingerprint for Antiphospholipid Syndrome Derived from Electronic Health Record Data
Emily Balczewski¹, Amala Ambati², Wenying Liang¹, Jacqueline Madison¹, Yu Zuo¹, Karandeep Singh³ and Jason Knight¹, ¹University of Michigan, Ann Arbor, MI, ²University of Michigan, Toledo, OH, ³University of California -- San Diego, San Diego, CA
Background/Purpose: Antiphospholipid syndrome (APS) is a rare autoimmune disease that is likely to demonstrate improved outcomes with earlier diagnosis and treatment. However, given APS’s complex,…
Abstract Number: 0897 • ACR Convergence 2024
Dynamic eQTLs from Activated Human B Cells Suggest Cell-state Dependent Effects for GWAS Risk Variants in BLK
Yao Fu, David Murphy, Richard Pelikan, Jeniffer Kelly, Kiely Grundahl, Satish Pasula, Kandice Tessneer and Patrick Gaffney, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex genetic disease in which B cells play a critical role in pathogenesis. Previous genome-wide association studies (GWAS)…
Abstract Number: 1779 • ACR Convergence 2024
Single-Nuclear RNA-Sequencing of Treatment Naïve JDM Muscle Highlights Dysregulated Vascular Integrity and Angiogenesis in Endothelial Cells and Decreased Nitric Oxide Synthase Signaling in Type II Muscle Fibers
Jessica Turnier¹, Chioma Madubata², Christine Goudsmit³, Sean Ferris³, Celine Berthier³, Zilan Zheng⁴, Sophia Matossian³, Jeff Dvergsten⁵, Meredyth Wilkinson⁶, Lucy R Wedderburn⁷, Gabrielle Morgan⁸, Lauren Pachman⁹, Claudia Lalancette³, Stephen Parker³, Andrew Heaton¹⁰, J. Michelle Kahlenberg³, Gabriela K Fragiadakis² and Jessica Neely⁴, ¹University of Michigan, Saline, MI, ²University of California, San Francisco, San Francisco, CA, ³University of Michigan, Ann Arbor, MI, ⁴UCSF, San Francisco, CA, ⁵Duke University Hospital, Hillsborough, NC, ⁶Great Ormond Street Institute of Child Health, London, United Kingdom, ⁷UCL GOS Institute of Child Health, London, United Kingdom, ⁸Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, IL, ⁹Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ¹⁰Cure JM, Leesburg, VA
Background/Purpose: Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children, and it frequently follows a chronic disease course. Treatments are limited secondary…
Abstract Number: 2536 • ACR Convergence 2024
Trans-Disease Microbial Biomarkers of Protection and Pathogenesis in Autoimmune Conditions: Results from the AMP AIM Consortium
Kevin Bu¹, Rebecca Blank², Adam Cantor¹, Alba Boix-Amoros³, Jose Scher⁴ and Jose Clemente¹, and Accelerating Medicines Partnership and Immune-Mediated Diseases Network (AMP AIM), ¹Icahn School of Medicine at Mount Sinai, New York, NY, ²NYU, New York, NY, ³Icahn School of Medicine, New York, NY, ⁴New York University School of Medicine, New York, NY
Background/Purpose: Autoimmune and immune-mediated diseases (AIMDs) affect over 20 million Americans. Although AIMDs have distinct symptomatology, there is significant overlap in their treatment, suggesting overlap…

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