Abstracts tagged "genomics"

Abstract Number: 0050 • ACR Convergence 2022
Effect of Disease-modifying Anti-rheumatic Drugs on Lung Microenvironment of SKG Mice
Sung Hae Chang¹, Jeongjun Choe², Seon Uk Kim³, Jeong Yeon Kim⁴, Sung Won Lee⁵, Jeong Seok Lee⁶ and Eun Young Lee⁴, ¹Soonchunhyang University College of Medicine, Bongmyeong-dong, Dongnam-gu, Cheonan-si, Republic of Korea, ²Sungkyunkwan University, Seoul, Republic of Korea, ³Seoul National University College of Medicine, Jongno-gu, Seoul, Republic of Korea, ⁴Seoul National University College of Medicine, Seoul, Republic of Korea, ⁵Sooncheonhyang University College of Medicine, Seoul, Republic of Korea, ⁶Korea Advanced Institute of Science and Technology, KAIST, Graduate school of Medical Science and Engineering, Daejeon, Republic of Korea
Background/Purpose: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is one of the pivotal extrapulmonary conditions. However, the pathophysiology of RA-ILD, including the effect of disease-modifying anti-rheumatoid…
Abstract Number: 1141 • ACR Convergence 2022
Consequences of SLE Heterogeneity on the Epigenome and the Drivers Behind
Olivia Castellini-Pérez¹, Athina Spiliopoulou², Guillermo Barturen¹, Andrii Iakovliev², Manuel Martinez-Bueno¹, Elena Carnero-Montoro¹ and Marta Alarcon-Riquelme¹, ¹Center for Genomics and Oncological Research (GENYO), Granada, Spain, ²University of Edinburgh, Edinburgh, Scotland, United Kingdom
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a prototypic systemic autoimmune disease characterized by a complex aetiology and heterogenous symptomatology which has been recently dissected using…
Abstract Number: 2230 • ACR Convergence 2022
Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study
Yiming Luo¹, Marcela Ferrada¹, Keith Sikora², Daniel Kastner³, Zuoming Deng⁴, Mengqi Zhang⁵, Hugh Alessi¹, Virginia Kraus⁶, Andrew Allen⁶ and Peter Grayson⁷, ¹National Institutes of Health, Bethesda, MD, ²National Institutes of Health Clinical Center, Bethesda, MD, ³National Human Genome Research Institute, Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁵University of Pennsylvania, Philadelphia, PA, ⁶Duke University, Durham, NC, ⁷National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Relapsing polychondritis (RP) is a rare rheumatic disease of unknown etiology characterized by inflammations of cartilaginous structures and other tissues, particularly the ears, nose,…
Abstract Number: 0501 • ACR Convergence 2022
Single-molecule Spatial Transcriptomic Analysis Reveals Distinct Cellular Networks in Rheumatoid Arthritis Synovia
Roopa Madhu¹, Kartik Bhamidipati¹, Nghia Millard², Michelle Curtis², Ye Cui³, Youngmi Kim³, Ellen Gravallese⁴, Soumya Raychaudhuri¹, Michael Brenner⁴, ilya Korsunsky¹ and Kevin Wei⁵, ¹Brigham and Women's Hospital, Boston, MA, ²Broad Institute, Boston, MA, ³Nanostring Technologies Inc., Seattle, WA, ⁴Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁵Brigham and Women's Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Chronic joint inflammation in rheumatoid arthritis (RA) arises from the interactions of many cell types. Single-cell transcriptomic profiling of RA joints has identified novel…
Abstract Number: 1149 • ACR Convergence 2022
A Novel Mitochondrial Variant as a Predictor for the Rapid Progressive Knee Osteoarthritis Phenotype: Development of a Predictive Model and Functional Studies
Alejandro Durán-Sotuela¹, Mercedes Fernández-Moreno¹, Tamara Hermida-Gómez¹, Sara Relaño¹, Victoria Suárez-Ulloa², vanesa Balboa-Barreiro³, Natividad Oreiro¹, Jorge Vázquez-García¹, FJ Blanco¹ and Ignacio Rego-Pérez¹, ¹Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, ²Plataforma de Bioinformática. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, ³Unidad de apoyo a la Investigación. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain
Background/Purpose: Knee osteoarthritis progression is heterogeneous in the population, being the most aggresive form the rapid progressive knee osteoarthritis (RPKOA). These patients suffer a worsening…
Abstract Number: 2233 • ACR Convergence 2022
Machine Learning Uncovers Novel mRNAs Expressed in Fibromyalgia
Lena Kolb¹, Mark Rudolph¹, Alan Kivitz², Scott Rey¹, Roberta Alexander¹, Anja Kammesheidt³ and Geoffrey Stephens¹, ¹Exagen, Inc., Vista, CA, ²Department of Rheumatology, Altoona Center for Clinical Research, Duncansville, PA, ³self, Laguna Beach, CA
Background/Purpose: Fibromyalgia is a debilitating pain condition that affects roughly 12 million people in the United States. Although preliminary diagnostic criteria have been established by…
Abstract Number: 0518 • ACR Convergence 2022
Changes in Skin Fibroblast Polarization Gene Expression Herald Clinical Improvement in Early, Diffuse Cutaneous Systemic Sclerosis
Kimberly Showalter Lakin¹, Deanna Jannat-Khah, DrPH, MSPH¹, Yajas Shah², Olivier Elemento², Aliza Bloostein¹, Jessica Gordon¹, Michael Whitfield³, Barbara White⁴, Dana Orange⁵ and Robert Spiera¹, ¹Hospital for Special Surgery, New York, NY, ²Weill Cornell Medicine, New York, NY, ³Dartmouth Geisel School of Medicine, Department of Biomedical Data Science, Lebanon, NH, ⁴Corbus Pharmaceuticals, Pleasanton, CA, ⁵The Rockefeller University, New York, NY
Background/Purpose: We previously identified a group of genes associated with high alpha-smooth muscle actin (aSMA) and low CD34 fibroblast staining in lesional systemic sclerosis (SSc)…
Abstract Number: 1539 • ACR Convergence 2022
Gene Expression Meta-Analysis Reveals Aging and Cellular Senescence Signatures in Scleroderma-associated Interstitial Lung Disease
Monica Yang¹, Seoyeon Lee², Jessica Neely³, Marina Sirota² and Paul Wolters², ¹UCSF, SF, CA, ²UCSF, SF, ³UCSF Benioff Children's Hospital, San Francisco, CA
Background/Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by diffuse fibrosis and vasculopathy that has potential to affect nearly every organ system. Interstitial lung…
Abstract Number: 0562 • ACR Convergence 2022
Large-Scale Targeted Sequencing Study Links Systemic Juvenile Idiopathic Arthritis with Rare Variants of MEFV, LYST, STXBP2, UNC13D
Mariana Correia Marques¹, Danielle Rubin², Emily Shuldiner², Elizabeth Schmitz², Elizabeth Baskin², Andrew Patt³, Alexei Grom⁴, Dirk Foell⁵, Marco Gattorno⁶, John Bohnsack⁷, Rae Yeung⁸, Sampath Prahalad⁹, Elizabeth Mellins¹⁰, Jordi Antón¹¹, Claudio Len¹², Sheila Oliveira¹³, Patricia Woo¹⁴, Seza Ozen¹⁵, INCHARGE Consortium¹⁶ and Michael Ombrello¹⁷, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ³National Center for Advancing Translational Sciences, Bethesda, MD, ⁴Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ⁵University Hospital Münster, Münster, Germany, ⁶Pediatric Clinic and Rheumatology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, ⁷University of Utah, Salt Lake City, UT, ⁸The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁹Emory + Children's Pediatric Institute, Atlanta, GA, ¹⁰Stanford University, Stanford, CA, ¹¹Pediatric Rheumatology Department. Hospital Sant Joan de Déu. Universitat de Barcelona, Esplugues de Llobregat, Spain, ¹²Universidade Federal de São Paulo, São Paulo, Brazil, ¹³Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁴University College London, London, United Kingdom, ¹⁵Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁶International Childhood Arthritis Genetics Consortium, Bethesda, MD, ¹⁷National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a genetically complex inflammatory condition. It can be marked by severe systemic inflammation that resembles the hereditary periodic…
Abstract Number: 1552 • ACR Convergence 2022
Rare Variant Analysis of Aortopathy Genes in Takayasu’s Arteritis
Hugh Alessi¹, Yiming Luo¹, Kaitlin Quinn² and Peter Grayson³, ¹NIH, Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: A set of genes has been associated with aortopathies, which are defined as non-inflammatory diseases where the integrity of large arteries is compromised leading…
Abstract Number: 0564 • ACR Convergence 2022
Identifying Shared Genetic Architecture Between RA and Other Conditions: A Phenome-Wide Association Study
Harrison Zhang¹, Gregory McDermott², Thany Seyok², Sicong Huang², Kumar Dahal², Sehi L'Yi¹, Clara Lea-Bonzel¹, Jacklyn Stratton², Dana Weisenfeld², Tianrun Cai², Paul Monach³, Jing Cui², Chuan Hong⁴, Tianxi Cai⁵ and Katherine Liao², ¹Harvard Medical School, Boston, MA, ²Brigham and Women's Hospital, Boston, MA, ³VA Boston Healthcare System, Boston, MA, ⁴Duke University, Durham, NC, ⁵Harvard TH Chan School of Public Health, Boston, MA
Background/Purpose: RA shares individual risk alleles with other autoimmune conditions such as type 1 diabetes and celiac disease. However, there are limited studies examining the…
Abstract Number: 1622 • ACR Convergence 2022
TNF Receptor 1 Drives Murine Pulmonary Arterial Hypertension and Is Characterized by Loss of Capillary Endothelial Cells and Pericytes, Smooth Muscle Cell Proliferation, and Alterations in Fibroblast Phenotype
Stacey Duemmel¹, Marc Nuzzo¹, Soumyaroop Bhattacharya¹, Qingfu Xu¹, Amy Mohan¹ and Benjamin Korman², ¹URMC, Rochester, NY, ²University of Rochester, Rochester, NY
Background/Purpose: We previously demonstrated that TNF-transgenic (TNF-Tg) mice have findings consistent with connective-tissue disease associated pulmonary arterial hypertension (CTD-PAH), and that this pathology is mediated…
Abstract Number: 0565 • ACR Convergence 2022
Deciphering Complement System-dependent Cellular Pathways in Human Rheumatoid Arthritis Synovial Tissues Using Single-cell Computational Omics
Juan Vargas¹, Nirmal Banda², Ian Mantel³, Anna Jonsson⁴, Kevin Wei⁵, Deepak Rao⁴, Susan Goodman⁶, Kevin D Deane⁷, Jennifer Seifert⁸, Jennifer Anolik⁹, Michael Brenner¹⁰, Soumya Raychaudhuri⁴, Accelerating Medicines Partnership RA/SLE⁴, Michael Holers², Laura Donlin⁶ and Fan Zhang⁸, ¹School Public Health Biostatistics Department, Aurora, CO, ²Department of Medicine Division of Rheumatology, Aurora, CO, ³Weill Cornell Medicine, New York, NY, ⁴Brigham and Women's Hospital, Boston, MA, ⁵Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁶Hospital for Special Surgery, New York, NY, ⁷University of Colorado Denver Anschutz Medical Campus, Denver, CO, ⁸University of Colorado, Aurora, CO, ⁹University of Rochester Medical Center, Rochester, NY, ¹⁰Brigham and Women's Hospital, Harvard Medical School, Boston, MA
Background/Purpose: The complement system is a major component of innate immunity and plays a vital role in experimental models of autoimmune arthritis pathogenesis. In patients…
Abstract Number: 1663 • ACR Convergence 2022
Age-Dependent Expansion and Activation of Disease-Associated Microglia in Neuropsychiatric Symptoms of Systemic Lupus Erythematosus
Hadijat Makinde¹, Caroline Shah¹, Miranda Gurra¹, Yidan Wang¹, Deborah Winter² and Carla Cuda¹, ¹Northwestern University, Chicago, IL, ²Northwestern University, Skokie, IL
Background/Purpose: Systemic lupus erythematosus (SLE) is a complex autoimmune disease that affects multipe end organs, including the brain. Despite a prevalence of over 50% in…
Abstract Number: 1105 • ACR Convergence 2021
Discovering Variants in Suspected Monogenic Systemic Inflammatory Disease: An Adult Case Series
Jason An¹, Madeline Couse¹, Dilan Dissanayake², Daniela Dominguez², Ronald Laxer¹, Christian Marshall¹, Johannes Roth³, Robert Rottapel⁴ and Linda Hiraki², ¹SickKids, Toronto, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³University of Ottawa, Ottawa, ON, Canada, ⁴St Michael's Hospital, Toronto, ON, Canada
Background/Purpose: Monogenic systemic inflammatory diseases (MSID) are a heterogeneous group of rare conditions caused by single gene variants leading to immune dysregulation. Diagnostic yield of…

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