Abstracts tagged "genomics"

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…
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…
Abstract Number: 0008 • ACR Convergence 2021
Jo-1-Binding and Clonally-Expanded Memory B Cells Express Germline and Somatically-Mutated B Cell Receptors in Anti-tRNA Synthetase Syndrome Patients
Erin Wilfong, Alberto Cisneros, Jennifer Young-Glazer, Scott Smith, Leslie Crofford and Rachel Bonami, Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Anti-tRNA synthetase syndrome (ARS) is a severe systemic autoimmune disease associated with myositis, interstitial lung disease, rash, and arthritis. ARS is associated with autoantibodies…
Abstract Number: 0472 • ACR Convergence 2021
An Atlas of Human and Mouse Intrarenal Immune Cells in Lupus Nephritis Reveals Homologous Immune Populations Across Common Mouse Strains and Species
Paul Hoover¹, Michael Peters², David Lieb², Runci Wang³, Garett Dunlap⁴, Deepak Rao¹, Nir Hacohen² and Anne Davidson⁵, ¹Brigham and Women's Hospital, Boston, MA, ²Broad Institute, Cambridge, MA, ³Brigham and Women’s Hospital, Boston, MA, ⁴Harvard University, Somerville, MA, ⁵Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY
Background/Purpose: We discovered 21 immune cell-types in lupus nephritis kidney biopsies as part of the Accelerating Medicines Partnership (AMP) consortium. These immune cells are the…
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…

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