Abstracts tagged "genomics"

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,…
Abstract Number: 0037 • ACR Convergence 2023
New Histological Approach in Spatial Transcriptomics Implicates Glandular Cell Involvement in Pathophysiology of Sjögren’s Disease
Paulina Czarnota¹, Rick Wilbrink², Bhuwan Khatri¹, Anna Stolarczyk¹, Cherilyn Pritchett Frazee¹, Chuang Li¹, Caleb Marlin¹, Kyle Wright³, Kandice Tessneer¹, Lida Radfar⁴, Judith James¹, Robert Scofield¹, Indra Adrianto⁵, Astrid Rasmussen¹, Joel Guthridge¹, A. Darise Farris¹ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Medical Center Groningen, Groningen, Netherlands, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴University of Oklahoma College of Dentistry, Oklahoma City, OK, ⁵Henry Ford Health, Detroit, MI
Background/Purpose: 10X Visium spatial transcriptomics evaluates gene expression in a 50μm tile coordinate of a sectioned tissue, yielding heterogeneous cell sampling. Spatial PCA algorithm was…
Abstract Number: 1660 • ACR Convergence 2023
Still’s Disease Patients with High Interferon-stimulated Gene Expression Have Enrichment of Rare, de Novo and Recessive Protein Altering Variants in Innate Immune Pathways
Mariana Correia Marques¹, Zuoming Deng², Navid Chowdhury², Elizabeth Schmitz³, Alana Platukus⁴, Stephen Brooks⁵, Carol Lake², Ly-Lan Bergeron², Michelle Millwood² and Michael Ombrello⁶, ¹National Institute of Arthritis & Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), St. Louis, MO, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Philadelphia, PA, ⁵Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skins Diseases, National Institutes of Health, Bethesda, MD, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD
Background/Purpose: Still’s disease (systemic juvenile idiopathic arthritis in children, adult-onset Still’s disease in adults) is an enigmatic inflammatory condition that affects people of all ages.…
Abstract Number: 0039 • ACR Convergence 2023
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis
Mariana Correia Marques¹, Danielle Rubin¹, Emily Shuldiner², Mallika Datta¹, Elizabeth Schmitz¹, Alexei Grom³, Dirk Foell⁴, Marco Gattorno⁵, John Bohnsack⁶, Rae Yeung⁷, Sampath Prahalad⁸, Elizabeth Mellins⁹, Jordi Anton Lopez¹⁰, Claudio Len¹¹, Sheila Oliveira¹², Patricia Woo¹³, Seza Ozen¹⁴, INCHARGE Consortium¹, Zuoming Deng¹⁵ and Michael Ombrello¹, ¹National Institute of Arthritis & Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Department of Biology, Stanford University, Stanford, CA, ³Division of Rheumatology, Cincinnati Children`s Hospital, Cincinnati, OH, ⁴University Hospital Münster, Münster, Germany, ⁵UOC Reumatologia e Malattie Autoinfiammatorie, Genoa, Italy, ⁶University of Utah, Salt Lake City, UT, ⁷The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁸Emory University School of Medicine, Children's Pediatric Institute, Atlanta, GA, ⁹Stanford University, Stanford, CA, ¹⁰Pediatric Rheumatology Department, Hospital Sant Joan e Deu, Barcelona University, Barcelona, Spain, ¹¹São Paulo Federal University, São Paulo, Brazil, ¹²Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹³University College London, London, United Kingdom, ¹⁴Hacettepe University Medical Faculty, Ankara, Turkey, ¹⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a complex inflammatory condition of childhood. It can be complicated by macrophage activation syndrome (MAS), a secondary form…

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