Abstracts tagged "genomics"

Abstract Number: 1780 • ACR Convergence 2024
Next Generation Sequencing Analysis Reveals Complex Genetic Architecture of Childhood-onset Systemic Lupus Erythematosus
Laura Lewandowski¹, Linda Hiraki², Christiaan Scott³, Ana Barrera-Vargas⁴, Diana Gómez-Martin⁵, Michael Ombrello⁶, Ivona Aksentijevich⁷, Zuoming deng⁸, Anthony Musolf⁹, Subrata Paul¹⁰, Dan Hupalo¹¹, Clifton Dalgard¹¹, Sarfaraz Hasni¹², Earl Silverman¹³ and Mariana Kaplan¹⁴, ¹NIAMS, NIH, Bethesda, MD, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Pediatric Rheumatology, Children’s Hospital of Eastern Ontario and University of Ottawa, Ottawa, ON, Canada, ⁴Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, Federal District, Mexico, ⁵INCMNSZ, Mexico, Distrito Federal, Mexico, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD, ⁷National Human Genome Research Institute, NIH, Bethesda, MD, ⁸National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁹Computational and Statistical Genomics Branch, NHGRI, NIH, Baltimore, MD, ¹⁰Collaborative Bioinformatics Resource, NIAID, NIH, Bethesda, MD, ¹¹The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, ¹²National Institutes of Health, Bethesda, MD, ¹³Silverman, Toronto, ON, Canada, ¹⁴NIAMS/NIH, Bethesda, MD
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a potentially life-threatening autoimmune disease. Childhood-onset SLE (cSLE) patients have younger disease onset and more severe disease than adults,…
Abstract Number: 2691 • ACR Convergence 2024
Transcriptomic Changes in CD4+ T Lymphocytes in Eosinophilic Granulomatosis with Polyangiitis
Roberto Ríos-Garcés¹, Núria Farran¹, Salvador Naranjo-Suarez², Roser Alba-Rovira¹, Sergio Prieto-González³, Itziar Tavera-Bahillo¹, Roser Solans-Laqué⁴, Ebymar Arismendi⁵, Marc Corbera-Bellalta¹, Javi Marco-Hernández¹, Farah Kamberovic¹, Nina Visocnik¹, Maria Cid⁶ and Georgina Espígol-Frigolé¹, ¹Vasculitis Research Group, Autoimmune Diseases Department, IDIBAPS, Hospital Clinic, University of Barcelona, Barcelona, Spain, ²Angiogenesis in Liver Disease Research Group, IDIBAPS, Hospital Clinic, University of Barcelona, Barcelona, Spain, ³Vasculitis Research Group, Autoimmune Diseases Department, IDIBAPS, Hospital Clinic, University of Barcelona, bar, Spain, ⁴Internal Medicine Service, Vall d'Hebron Hospital University and Campus, Barcelona, Spain, ⁵Pneumology Department, Hospital Clinic, IDIBAPS, University of Barcelona, CIBERES, Barcelona, Spain, ⁶Hospital Clinic Barcelona. University of Barcelona, Barcelona, Spain
Background/Purpose: Eosinophilic Granulomatosis with polyangiitis (EGPA) is a rare systemic autoimmune disorder, included within the ANCA-associated vasculitis. It is characterized by a diverse clinical profile,…
Abstract Number: 0901 • ACR Convergence 2024
Intergenic Alu Elements Are Uniquely Expressed in Dermatomyositis and Correlate with Interferon Stimulated Genes
Rayan Najjar¹, Andrew Mammen² and Tomas Mustelin¹, ¹University of Washington, Seattle, WA, ²NIH, Bethesda, MD
Background/Purpose: As genes constitute < 2% of our genomes, there is a need to explore potential roles of other genomic elements in autoimmune disease. We…
Abstract Number: 1804 • ACR Convergence 2024
Investigating Adaptive Immune Receptor Repertoires by Deep Immune Cell Phenotyping in Preclinical Autoimmunity Development
Aleksandra Bylinska¹, Miles Smith¹, Rufei Lu¹, Benjamin Jones², Carla Guthridge¹, Matthew Caleb Marlin¹, Christian Wright³, Susan Macwana³, Wade DeJager³, Marci Beel³, Christopher Lessard¹, Cristina Arriens¹, Joan Merrill⁴, Judith James¹ and Joel Guthridge¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oklahoma State University, Oklahoma City, OK, ³Oklahoma Medical Research Foundation, Oklahoma City, ⁴Oklahoma Medical Research Foundation, Oklahoma City 73104, OK
Background/Purpose: A loss of systemic self-tolerance to anti-nuclear autoantibodies (ANAs) is one of the main hallmarks of SLE. However, most healthy females with ANAs will…
Abstract Number: 0904 • ACR Convergence 2024
Defining the Function of Disease Variants with CRISPR Editing and Multimodal Single Cell Sequencing
Yuriy Baglaenko¹, MIchelle Curtis², Majd Al Suqri³, Ryan Agnew³, Aparna Nathan⁴, Hafsa Mire⁴, Annelise Yoo Mah-Som³, David Liu⁵, Gregory Newby⁶ and Soumya Raychaudhuri³, ¹Cincinnati Children's Hospital, Cincinnati, OH, ²Broad Institute, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Harvard Medical School, Boston, MA, ⁵Broad Institute, Cambridge, MA, ⁶Johns Hopkins, Baltimore, MD
Background/Purpose: Genetic studies have identified thousands of individual disease-associated non-coding alleles, but identification of the causal alleles and their functions remain critical bottlenecks. Even though…
Abstract Number: 1810 • ACR Convergence 2024
Modulation of Type I Interferon Signaling by Anifrolumab Alters the Spatial Immune Landscape in Cutaneous Lupus Erythematosus
Ksenia Anufrieva¹, Rochelle Castillo², Ce Gao², Jessica Liu², Neda Shahriari², Kimberly Hashemi², Dustin Taylor³, Rachael Rowley², Elizabeth Rainone², Avery LaChance², Rachel Gate⁴, ilya Korsunsky², Ruth Ann Vleugels⁵ and Kevin Wei⁶, ¹BWH, Cambridge, MA, ²Brigham and Women's Hospital, Boston, MA, ³Vanderbilt University Medical Center, Nashville, TN, ⁴10x Genomics, Pleasanton, CA, ⁵Brigham and Women's Hospital, Brookline, MA, ⁶Brigham and Women's Hospital at Harvard Medical School, Boston, MA
Background/Purpose: Reliable and effective treatments for refractory cutaneous lupus erythematosus (CLE) remained elusive until the arrival of anifrolumab, a monoclonal antibody targeting the type I…
Abstract Number: 0022 • ACR Convergence 2024
Transcriptomic Characterization of Knee Capsule Fibroblasts and Mesenchymal Stromal Cells Reveals an Association Between Flexion Contracture and Alterations in Immune Pathways in People with End-stage OA
Odette Laneuville¹, Daniel Stratis¹, Robert Feibel², Guy Trudel³ and T Mark Campbell⁴, ¹University of Ottawa, Ottawa, ON, Canada, ²The Ottawa Hospital, Ottawa, ON, Canada, ³Ottawa Hospital Research Institute, Ottawa, ON, Canada, ⁴Bruyère Research Institute, Ottawa, ON, Canada
Background/Purpose: Over 10% of adults have symptomatic knee OA but no disease-modifying interventions exist. A flexion contracture (loss of extension; FC) presents in 1/3 of…
Abstract Number: 0907 • ACR Convergence 2024
Association of Rare and Common Genetic Variants in MOCOS with Inadequate Response to Allopurinol
Niamh Fanning¹, Murray Cadzow², Ruth Topless³, Chris Frampton⁴, Nicola Dalbeth⁵, Tony Merriman⁶ and Lisa Stamp⁴, ¹University of Otago, Christchurch, New Zealand, ²University of Otago, Dunedin 9054, New Zealand, ³University of Otago, Dunedin, New Zealand, ⁴University of Otago, Christchurch, Christchurch, New Zealand, ⁵University of Auckland, Auckland, New Zealand, ⁶University of Alabama at Birmingham, Homewood, AL
Background/Purpose: The minor allele of the common rs2231142 (Q141K) ABCG2 variant predicts inadequate response to allopurinol urate lowering therapy (ULT). We hypothesize that additional variants in genes…
Abstract Number: 1819 • ACR Convergence 2024
Insulin-like Growth Factor Binding Protein-7 (IGFBP7) Plays a Pathogenic Role in Dermal Fibrosis and Is Increased in Systemic Sclerosis
Ye Jin Jeong¹, Gayathri Guru Murthy¹, Gaochan Wang¹, Tahia Rahman¹ and Benjamin Korman², ¹University of Rochester School of Medicine and Dentistry, Rochester, NY, ²University of Rochester, Rochester, NY
Background/Purpose: Systemic sclerosis (SSc, scleroderma) is an autoimmune connective tissue disease that causes autoimmunity, vascular dysfunction, and fibrosis of the skin, lungs, and other organs.…
Abstract Number: 0028 • ACR Convergence 2024
Human Meniscus Histopathological and Transcriptomic Changes at Early and Advanced Stages of Knee Osteoarthritis
Takuya Sakamoto¹, Hannah Swahn¹, Merissa Olmer¹, Rachel Miller², Anne-Marie Malfait³ and Martin Lotz¹, ¹Scripps Research Institute, La Jolla, CA, ²Rush University Medical Center, Chicago, IL, ³Rush University Medical Center, Division of Rheumatology, Chicago, IL
Background/Purpose: The knee menisci are essential elements in joint biomechanics and meniscus damage is a driver of cartilage destruction and knee osteoarthritis. Meniscus damage and…
Abstract Number: 0909 • ACR Convergence 2024
Identifying Predictive Serum Soluble Mediators Signatures Specific to ANA+ at Risk of SLE Individuals with Next Generation Proteomics
Aleksandra Bylinska¹, Miles Smith¹, Rufei Lu¹, Benjamin Jones², Carla Guthridge¹, Matthew Caleb Marlin¹, Christian Wright³, Susan Macwana³, Wade DeJager³, Marci Beel³, Christopher Lessard¹, Cristina Arriens¹, Joan Merrill⁴, Judith James¹ and Joel Guthridge¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oklahoma State University, Oklahoma City, OK, ³Oklahoma Medical Research Foundation, Oklahoma City, ⁴Oklahoma Medical Research Foundation, Oklahoma City 73104, OK
Background/Purpose: Multiple factors can predispose individuals to development of SLE, including the presence of African American ancestry, lupus-associated autoantibodies (ANAs), or some clinical manifestations of…
Abstract Number: 1822 • ACR Convergence 2024
Analysis of Differential Activation of Lysophosphatidic Acid Regulated Genes in Diffuse and Limited Cutaneous Systemic Sclerosis
Medha Kanitkar¹, Philip Yee², Stefano Rodolfi¹, Kristina Clark³, Voon Ong⁴ and Christopher Denton⁵, ¹University College London, London, United Kingdom, ²UCL, London, United Kingdom, ³University of Oxford, Oxford, United Kingdom, ⁴University College London, London, England, United Kingdom, ⁵University College London, Northwood, United Kingdom
Background/Purpose: Lysophosphatidic Acid (LPA) is a lipid mediator implicated in the pathogenesis of SSc and idiopathic pulmonary fibrosis. Phase 2 clinical trials targeting this biological…
Abstract Number: 0063 • ACR Convergence 2024
Splicing into Action:Investigating the Role of Alternative Splicing in Rheumatoid Arthritis Neutrophils
Rayan Najjar¹, Noga Rogel² and Tomas Mustelin³, ¹University of Washington, Seattle, ²University of Washinton, Seattle, ³University of Washington, Seattle, WA
Background/Purpose: Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by a variable response to therapies, reflecting its complex and incompletely understood pathogenesis. Emerging research suggests…
Abstract Number: 0911 • ACR Convergence 2024
Activating B Cells Facilitates the Discovery of Latent Disease-associated Variants
David Murphy, Yao Fu, Jennifer Kelly, Richard Pelikan, Graham Wiley and Patrick Gaffney, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Although millions of disease-associated variants have been discovered using GWAS, most of these occur in non-coding regions and their mechanistic link to disease is…
Abstract Number: 1823 • ACR Convergence 2024
Identification and Prediction of Systemic Sclerosis Intrinsic Subtypes Using Semi-Supervised and Supervised Learning on Gene Expression Data of Multiple Cohorts
Zhiyun Gong¹, Rezvan Parvizi², Helen Jarnagin¹, Haobin Chen³, Madeline Morrisson⁴, Tammara Wood⁵, Monique Hinchcliff⁶ and Michael Whitfield², ¹Dartmouth College, Lebanon, NH, ²Geisel School of Medicine at Dartmouth, Hanover, NH, ³Dartmouth, Lebanon, NH, ⁴Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁵Dartmouth, Hanover, NH, ⁶Yale School of Medicine, Westport, CT
Background/Purpose: Systemic Sclerosis (SSc) is a molecularly heterogeneous disease. Distinct subtypes of patients have been identified based on gene expression in skin. In this study,…

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