Abstracts tagged "genomics"

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: 0500 • ACR Convergence 2021
Clinical Phenotypes of Patients with Systemic Sclerosis with Distinct Molecular Signatures in the Skin
Monica Yang¹, Vivien Goh², Monica Espinoza³, Yiwei Yuan⁴, Julia Lee⁵, Mary Carns⁶, Dinesh Khanna⁷, Zsuzsanna McMahan⁸, Michael Whitfield⁹ and Monique Hinchcliff¹⁰, ¹University of California San Francisco, San Francisco, CA, ²Northwestern University, Chicago, IL, ³Geisel School of Medicine, Hanover, NH, ⁴Dartmouth College, Hanover, NH, ⁵Northwestern University Feinberg School of Medicine, Chicago, IL, ⁶Northwestern University Division of Rheumatology, Chicago, IL, ⁷University of Michigan, Ann Arbor, MI, ⁸Johns Hopkins Rheumatology, Baltimore, MD, ⁹Geisel School of Medicine, Lebanon, NH, ¹⁰Yale School of Medicine, Westport, CT
Background/Purpose: Although two subsets in systemic sclerosis (SSc) have been identified based on degree of skin disease, the current classification system, limited vs. diffuse cutaneous,…
Abstract Number: 0942 • ACR Convergence 2021
Transcriptional Regulation of Synovial Macrophages in the Aging Joint
Shang-Yang Chen¹, Anna Montgomery¹, Anna Woo¹, Gaurav Gadhvi¹, Harris Perlman¹, Carla Cuda¹, Dawn Bowdish² and Deborah Winter³, ¹Northwestern University, Chicago, IL, ²McMaster University, Hamilton, ON, Canada, ³Northwestern University Division of Rheumatology, Chicago, IL
Background/Purpose: Macrophages are critical in maintaining tissue homeostasis, as well as in inflammation and immune response, but their function deteriorates with age increasing susceptibility to…
Abstract Number: 0945 • ACR Convergence 2021
A Single-cell Atlas of Human Synovial Endothelial Cells in Inflammatory Arthritis
Sam Edalat¹, Reto Gerber², Miranda Houtman¹, Raphael Micheroli³, Kristina Buerki¹, Nadja Izanc¹, Blaz Burja⁴, Tadeja Kuret⁵, Snežna Sodin-Šemrl⁵, Adrian Ciurea³, Oliver Distler³, Caroline Ospelt¹, Chantal Pauli⁶, Mark Robinson⁷ and Mojca Frank-Bertoncelj³, ¹Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, ²Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich and Department of Molecular Life Sciences and SIB Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland, ³Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich/University of Zurich, Zurich, Switzerland, ⁴Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich and Department of Rheumatology, University Medical Centre Ljubljana, Zurich, Switzerland, ⁵Department of Rheumatology, University Medical Centre Ljubljana, Ljubljana, Slovenia, ⁶Department of Pathology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, ⁷Department of Molecular Life Sciences and SIB Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland
Background/Purpose: Dysregulated endothelial cell (EC) function and altered (lympho)angiogenesis crucially contribute to synovial pathology in inflammatory arthritis. Additionally, endothelium plays a key role in the…
Abstract Number: 0973 • ACR Convergence 2021
Modeling of Clinical Phenotypes in SLE Based on Platelet Transcriptomic Analysis and FCGR2a Biallelic Variants
MacIntosh Cornwell¹, Hanane EL Bannoudi², Elliot Luttrell-Williams¹, Khrystyna Myndzar¹, Alexis Engel³, Peter Izmirly⁴, H. Michael Belmont⁵, Robert Clancy⁶, Jeffrey Berger¹, Kelly Ruggles¹ and Jill Buyon⁶, ¹New York University, New York, NY, ²NYU Langone Health, New York, NY, ³NYU Langone Health, New Yok, NY, ⁴New York University School of Medicine, New York, NY, ⁵NYU School of Medicine, New York, NY, ⁶NYU Grossman School of Medicine, New York, NY
Background/Purpose: The clinical heterogeneity of SLE with its complex pathogenesis remains challenging as we strive to provide optimal management. The contribution of platelets to endovascular…
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…
Abstract Number: 1384 • ACR Convergence 2021
A Genomic Meta-Analysis of Clinical Variables and Association with Intrinsic Molecular Subsets in Systemic Sclerosis
Jennifer Franks¹, Diana Toledo¹, Viktor Martyanov¹, Yue Wang², Suiyuan Huang³, Tammara Wood¹, Cathie Spino³, Robyn Domsic⁴, Monique Hinchcliff⁵, Dinesh Khanna³ and Michael Whitfield⁶, ¹Geisel School of Medicine at Dartmouth, Hanover, NH, ²Geisel School of Medicine at Dartmouth, West Lebanon, NH, ³University of Michigan, Ann Arbor, MI, ⁴University of Pittsburgh, Pittsburgh, PA, ⁵Yale School of Medicine, Westport, CT, ⁶Geisel School of Medicine, Lebanon, NH
Background/Purpose: Four intrinsic molecular subsets (Inflammatory, Fibroproliferative, Limited, Normal-like) have been identified in systemic sclerosis (SSc) that may have different clinical associations. To test this…
Abstract Number: 1435 • ACR Convergence 2021
Identification of Distinct Fibroblast Populations in Systemic Sclerosis 3D Skin Tissues with Single Cell Omics
Noelle Kosarek¹, Heetaek Yang², Fred W. Kolling³, Tamar Abel⁴, Mengqi Huang⁵, Avi Smith⁶, Jonathan Garlick⁶, Patricia A. Pioli² and Michael L. Whitfield⁷, ¹Dartmouth Geisel School of Medicine, Hartford, VT, ²Geisel School of Medicine, Hanover, NH, ³Centers for Quantitative Biology, Hanover, ⁴Geisel School of Medicine, West Lebanon, NH, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶Tufts University School of Dental Medicine, Boston, MA, ⁷Geisel School of Medicine, Lebanon, NH
Background/Purpose: Systemic sclerosis (SSc) is a rare autoimmune disease characterized by skin and internal organ fibrosis, vascular abnormalities, and autoantibody formation. Single cell genomics studies…
Abstract Number: 1512 • ACR Convergence 2021
Epigenetic and Transcriptional Programs of CD4+ T Cell Anergy
Philip Titcombe, Milagros Silva Morales and Daniel Mueller, University of Minnesota, Minneapolis, MN
Background/Purpose: T cell tolerance is essential for preventing autoimmune diseases and resolving inflammation. To maintain tolerance, CD4+ T cells recognizing self-antigens in the periphery can…
Abstract Number: 1927 • ACR Convergence 2021
Heterogeneity of Juvenile Idiopathic Arthritis Synovial Fibroblasts Correlates to Disease Progression and Provides Compelling Diagnostic Data
Megan Simonds¹, Kathleen Sullivan², Carlos Rose³ and AnneMarie Brescia⁴, ¹Nemours, Wilmington, DE, ²The Children's Hospital of Philadelphia, Philadelphia, PA, ³Thomas Jefferson University/duPont Hospital for Children, Wilmington, DE, ⁴Nemours/A.I.duPont Hospital for Children, Wilmington, DE
Background/Purpose: Juvenile Idiopathic Arthritis (JIA) induces growth disturbances in affected joints. Fibroblast-like synoviocytes (FLS) play a crucial role in JIA pathogenesis; however, the mechanisms by…
Abstract Number: 1930 • ACR Convergence 2021
Single-Cell Genomics Reveals a Shared Monocyte Interferon Program in a Subset of Patients with Systemic Juvenile Idiopathic Arthritis, Macrophage Activation Syndrome and Lung Disease
Emely Verweyen¹, Kairavee Thakkar², Kashish Chetal², Sanjeev Dhakal³, Alexei Grom², Nathan Salomonis² and Grant Schulert², ¹Cincinnati Children's Hospital, Cincinnati, OH, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³Cincinnati Children hospital, Cincinnati, OH
Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) is a clinically heterogenous disease and can be complicated by macrophage activation syndrome (MAS) and lung disease (LD) thought…
Abstract Number: 1935 • ACR Convergence 2021
Skewed Escape from X-inactivation: Insights into the Female Bias of Sjögren’s Syndrome
Teressa Shaw¹, Wei Zhang², Sara McCoy³, Xueer Qiu¹, Adam Pagenkopf¹, Robert Hal Scofield⁴, Jacques Galipeau³ and Yun Liang¹, ¹University of Wisconsin-Madison, Madison, WI, ²University of California San Diego, La Jolla, CA, ³University of Wisconsin, Madison, WI, ⁴Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Many autoimmune diseases feature increased prevalence in females, with primary Sjögren's syndrome (pSS) being the most female-predominant autoimmune disease with a female-to-male ratio of…
Abstract Number: 1938 • ACR Convergence 2021
A Phenome-Wide Association Study of Genes Associated with COVID-19 Severity Reveals Shared Genetics with Rheumatic Conditions
Anurag Verma¹, Noah Tsao¹, Lauren Thomann², Yuk-Lam Ho², Rotonya Carr¹, Dana crawford³, Jimmy efird⁴, Jennifer Huffman², Adriana Hung⁵, Kerry Ivey², Sudha Iyengar³, Michael Levin⁶, Shiuh-Wen luoh⁷, Julie Lynch⁸, Pradeep Natarajan⁹, Saiju Pyarajan¹⁰, alexander Bick¹¹, Lauren Costa², Giulio Genovese¹², Richard Hauger¹³, Ravi madduri¹⁴, Gita Pathak¹⁵, Renato polimanti¹⁵, Benjamin Voight¹, Marijana Vujkovic¹, Maryam Zekavat¹⁵, Hongyu Zhao¹⁵, Marylyn Ritchie¹, Kyong-Mi Chang¹⁶, Kelly Cho², Juan casas², Phil Tsao¹⁷, J. Michael Gaziano², Christopher ODonnell², Scott Damrauer¹ and Katherine Liao¹⁸, ¹University of Pennsylvania, Philadelphia, PA, ²VA Boston Healthcare System, Boston, MA, ³Case Western Reserve University, Cleveland, OH, ⁴DVAHCS, Durham, ⁵Vanderbilt University Medical Center, Nashville, TN, ⁶University of Pennsylvania, Philadelphia, ⁷Oregon Health & Science University, Portland, ⁸VA Informatics and Computing Infrastructure, VA Salt Lake City Health Care System, Salt Lake City, UT, ⁹Massachusetts General Hospital, Boston, MA, ¹⁰Partners, Boston, ¹¹Vanderbilt University, Nashville, TN, ¹²Harvard Medical School, Boston, MA, ¹³University of California San Diego, San Diego, CA, ¹⁴Argon National Lab, Chicago, IL, ¹⁵Yale University, New Haven, CT, ¹⁶VA Philadelphia, Philadelphia, PA, ¹⁷VA Palo Alto, Palo Alto, CA, ¹⁸Brigham and Women's Hospital, Boston, MA
Background/Purpose: Severe coronavirus disease 2019 (COVID-19) is associated with a broad range of clinical conditions. International efforts have led to the identification of risk alleles…

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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. Academic institutions, private organizations and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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