Abstracts tagged "genomics"

Abstract Number: 0733 • ACR Convergence 2023
Global Identification of Lupus Genetic Risk Variants Facilitating the Type I Interferon Pathway Through CRISPR-based Genomic Screening
Guojun Hou¹, Xinyi Zhu¹, Yutong Zhang¹, Zhaorui Cheng¹ and Nan Shen², ¹Shanghai Institute of Rheumatology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University (SJTUSM), Shanghai, China, ²Shanghai Jiao Tong University School of Medicine, Shanghai, China
Background/Purpose: Genome-Wide Association Studies (GWAS) have unveiled over 1000 risk variants for lupus, predominantly situated in non-coding genomic regions. Their functional roles, especially their potential…
Abstract Number: 1785 • ACR Convergence 2023
Machine Learning Models Identify Gut Microbiota That Predict Chronicity in Reactive Arthritis
Prakashini MV¹, Soumendu Mahapatra², Krushna Chandra Murmu², Rasmita Mishra², Prasanta Padhan¹, Punit Prasad², Ramnath Misra³ and Sakir Ahmed⁴, ¹Kalinga Institute of Medical Sciences, KIIT University, Bhubaneswar, India, ²Institute of Life Sciences, Bhubaneswar, India, ³Kalinga Institute of Medical Sciences, KIIT University, Lucknow, India, ⁴Kalinga Institute of Medical Sciences, Bhubaneswar, India
Background/Purpose: Reactive arthritis (ReA) is the unique infection-triggered spondyloarthritis (SpA). Undifferentiated peripheral SpA (UpSpA) is similar but without previous infection, or psoriasis or inflammatory bowel…
Abstract Number: 0017 • ACR Convergence 2023
Xist Ribonucleoproteins Promote Female Sex-biased Autoimmunity
Diana Dou¹, Yanding Zhao¹, Julia Belk¹, Yang Zhao¹, Kerriann Casey², Derek Chen¹, Rui Li¹, Bingfei Yu¹, Suhas Srinivasan¹, Brian Abe¹, Katerina Kraft¹, Ceke Hellström³, Ronald Sjöberg⁴, Sarah Chang⁵, Allan Feng⁵, Daniel Goldman⁶, Ami Shah⁷, Michelle Petri⁶, Lorinda Chung⁸, David Fiorentino⁹, Emma Lundberg¹⁰, Anton Wutz¹¹, Paul Utz⁵ and Howard Chang¹, ¹Center for Personal Dynamic Regulomes and Program in Epithelial Biology, Department of Dermatology, Stanford University School of Medicine, Stanford, CA, ²Department of Comparative Medicine, Stanford University, Stanford, CA, ³Autoimmunity and Serology Profiling, Division of Affinity Proteomics, Department of Protein Science, KTH Royal Institute of Technology, SciLifeLab, Stockholm, Sweden, ⁴Department of Protein Science, SciLifelab, KTH Royal Institute of Technology, Stockholm, Sweden, ⁵Department of Medicine, Division of Immunology and Rheumatology, Stanford University School of Medicine, Stanford, CA, ⁶Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Timonium, MD, ⁷Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Ellicott City, MD, ⁸Department of Medicine, Division of Immunology and Rheumatology, Stanford University School of Medicine, Woodside, CA, ⁹Department of Dermatology, Stanford University School of Medicine, Menlo Park, CA, ¹⁰Departments of Bioengineering and Pathology, Stanford University, Stanford, CA, ¹¹Department of Biology, Institute of Molecular Health Sciences, Swiss Federal Institute of Technology, ETH Hönggerberg, Zurich, Switzerland
Background/Purpose: Autoimmune diseases disproportionately affect females more than males. The XX sex chromosome complement is strongly associated with susceptibility to autoimmunity. Xist long noncoding RNA…
Abstract Number: 0736 • ACR Convergence 2023
Deciphering Complement System-dependent Cellular Pathways in Human Rheumatoid Arthritis Synovial Tissue Using Large Single-cell Computational Omics
Juan Vargas¹, Ian Mantel², Nirmal Banda¹, Anna Helena Jonsson³, Kevin Wei⁴, Deepak Rao³, Susan Goodman⁵, Kevin Deane¹, The Accelerating Medicines Partnership SLE/RA¹, Jennifer Anolik⁶, Michael Brenner⁴, Soumya Raychaudhuri³, Jennifer Seifert⁷, Michael Holer¹, Laura Donlin⁵ and Fan Zhang⁸, ¹University of Colorado Anschutz Medical Campus, Aurora, CO, ²Weill Cornell Medicine, New York, NY, ³Brigham and Women's Hospital, Boston, MA, ⁴Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁵Hospital for Special Surgery, New York, NY, ⁶University of Rochester Medical Center, Rochester, NY, ⁷the Accelerating Medicines Partnership (AMP) RA/SLE Network, Boston, MA, ⁸University of Colorado, Aurora, CO

Background/Purpose: The complement system is a major component of innate immunity and plays a vital role in autoimmune disease pathogenesis. In patients with rheumatoid arthritis…
Abstract Number: 1833 • ACR Convergence 2023
Development of a Polygenic Risk Model for Therapeutic Response to Bedtime Sublingual Cyclobenzaprine (TNX-102 SL*) in Fibromyalgia Based on Polygenic Single Nucleotide Polymorphism (SNP)-Count Scores
Jeffrey Rosenfeld¹, Greta Linse², Sally Slipher², Candace Flint³, Annie Iserson³, Herbert Harris⁴, Jean Engels³, Gregory Sullivan⁵ and Seth Lederman⁶, ¹Tonix Pharmaceuticals, Chatham, NJ, ²Montana State University, Bozeman, MT, ³Tonix Pharmaceuticals, New York, NY, ⁴Tonix Pharmaceuticals, Chapel Hill, NC, ⁵Tonix Pharmaceuticals Inc, Chatham, NJ, ⁶Tonix Pharmaceuticals, South Dartmouth, MA
Background/Purpose: Fibromyalgia (FM) is characterized by widespread pain, non-restorative sleep, fatigue, and cognitive dysfunction. TNX-102 SL is a sublingual cyclobenzaprine tablet designed for daily use…
Abstract Number: 0018 • ACR Convergence 2023
Alternative Splicing and Expected Protein Changes in Muscle Biopsies from Different Types of Idiopathic Inflammatory Myopathies
Rayan Najjar¹, Iago Pinal-Fernandez², Andrew Mammen³ and Tomas Mustelin¹, ¹University of Washington, Seattle, WA, ²National Institutes of Health, Bethesda, MD, ³NIH, Bethesda, MD
Background/Purpose: Alternative splicing of mRNA results in important biological impacts with increasing evidence implicating it in the pathology of autoimmune diseases. However, it is understudied…
Abstract Number: 0769 • ACR Convergence 2023
Development and Validation of a Combined Clinical and Genetic Risk Score for Interstitial Lung Disease in a Large, Multicenter, Prospective Rheumatoid Arthritis Cohort
Austin Wheeler¹, Joshua Baker², Yangyuna Yang¹, Punyasha Roul¹, K Wysham³, Grant Cannon⁴, Gary Kunkel⁵, Gail Kerr⁶, Dana Ascherman⁷, Paul Monach⁸, Andreas Reimold⁹, Jill Poole¹, Tony Merriman¹⁰, Ted R Mikuls¹¹ and Bryant England¹, ¹University of Nebraska Medical Center, Omaha, NE, ²University of Pennsylvania, Philadelphia, PA, ³VA Puget Sound/University of Washington, Seattle, WA, ⁴University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁵University of Utah, Salt Lake City, UT, ⁶Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, ⁷University of Pittsburgh, Pittsburgh, PA, ⁸VA Boston Healthcare System, Boston, MA, ⁹University of Texas Southwestern Medical Center, Dallas, TX, ¹⁰University of Alabama at Birmingham, Birmingham, AL, ¹¹Division of Rheumatology and Immunology, University of Nebraska Medical Center, Omaha, NE
Background/Purpose: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is an extra-articular manifestation of RA that causes substantial morbidity and mortality. Although some clinical and genetic risk…
Abstract Number: 2105 • ACR Convergence 2023
Cohort-wide Immuno-phenotype Deconvolute Immunological and Clinical Heterogeneity Across Autoimmune Rheumatic Diseases
Hiroaki Tanaka¹, Yukinori Okada², Shingo Nakayamada¹, Yusuke Miyazaki³, Kyuto Sonehara⁴, Shinichi Namba⁵, Suguru Honda⁶, Yuya Shirai⁷, Kenichi Yamamoto⁵, Katsunori Ikari⁸, Masayoshi Harigai⁹, KOSHIRO SONOMOTO¹⁰ and Yoshiya Tanaka¹, ¹University of Occupational and Environmental Health, Kitakyushu, Japan, ²University of Tokyo / Osaka University / RIKEN, Tokyo, Japan, ³The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Kiakyusyu Fukuoka, Japan, ⁴University of Tokyo, Tokyo, Japan, ⁵Osaka University, Osaka, Japan, ⁶Tokyo Women's Medical University, Tokyo, Japan, ⁷Osaka University, Suita, Japan, ⁸Tokyo Women's Medical University School of Medicine, Tokyo, Japan, ⁹Tokyo Women's Medical University, Division of Rheumatology, Department of Internal Medicine, Tokyo, Japan, ¹⁰University of Occupational and Environmental Health, Beppu, Japan
Background/Purpose: Autoimmune rheumatic diseases (AIRDs) are systemic but heterogeneous diseases characterized by orchestration of disrupted self-tolerance of immune systems. We face a challenge in characterizing…
Abstract Number: 0019 • ACR Convergence 2023
Use of High-plex Data Reveals Novel Insights into the Temporal Artery Processus of Giant Cell Arteritis
Simon Parreau¹, Elsa Molina², Stéphanie Dumonteil¹, Radjiv Goulabchand³, Thomas Naves⁴, Melanie Bois⁵, Anne-Laure Fauchais¹, Eric Liozon⁶, Marie-Odile Jauberteau⁴, Cornelia M. Weyand⁷ and Kim-Heang Ly¹, ¹Dupuytren Hospital, Limoges, France, ²Next Generation Sequencing Core, Salk Institute for Biological Studies, La Jolla, CA, ³University of California San Diego, La Jolla, CA, ⁴INSERM U1308, Limoges, France, ⁵Mayo Clinic, Rochester, MN, ⁶Department of Internal Medicine, University Hospital of Limoges, Limoges Cedex, Limoges, France, ⁷Mayo Clinic School of Medicine and Stanford University, Rochester, MN
Background/Purpose: Uncover the key coding genes to define new biomarkers or pathways associated with GCA by performing the first in situ spatial profiling characterization of…
Abstract Number: 0873 • ACR Convergence 2023
FOXO Activators as Drugs for Osteoarthritis
Ichiro Kurakazu, Merissa Olmer, Kevin Myers and Martin K Lotz, Scripps Research Institute, La Jolla, CA
Background/Purpose: Forkhead box O (FOXO) proteins are a family of transcription factors involved in lifespan, aging, and autophagy. FOXO are essential for maintaining cartilage homeostasis…
Abstract Number: 2331 • ACR Convergence 2023
Molecular Predictors of Treatment Response in Two Trials of Abatacept in Systemic Lupus Erythematosus
Kevin Thomas¹, Miles Smith¹, Carla Guthridge¹, Nicolas Dominguez¹, Susan Macwana¹, Wade DeJager¹, Catriona Wagner¹, Peter Schafer², Stan Kamp¹, Betty Diamond³, David Wofsy⁴, Aikaterini Thanou⁵, Cristina Arriens⁶, Cynthia Aranow³, Joan Merrill¹, Judith James¹ and Joel Guthridge¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Bristol Myers Squibb, Belle Mead, NJ, ³Feinstein Institutes for Medical Research, Manhasset, NY, ⁴University of California San Francisco, San Francisco, CA, ⁵University of Oklahoma Health, Edmond, OK, ⁶Oklahoma Medical Research Foundation and University of Oklahoma Health Sciences Center, Department of Arthritis & Clinical Immunology, Oklahoma City, OK
Background/Purpose: Abatacept (ABA) is a fusion protein that disrupts T cell co-stimulation by inhibiting interactions between CD28 and CD80/86. ABA is effective in RA, but…
Abstract Number: 0022 • ACR Convergence 2023
Validation of a Transcriptomic-Based Machine Learning Model to Establish the Endotype of SLE Patients
Erika Hubbard¹, Prathyusha Bachali², Kathryn Kingsmore Allison¹, Amrie Grammer¹ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²AMPEL BioSolutions, Redmond, WA
Background/Purpose: We previously developed a novel machine learning (ML) pipeline leveraging analysis of gene expression data to identify subsets of SLE patients with common molecular…
Abstract Number: 0918 • ACR Convergence 2023
Network Analysis of Genome Sequences Identifies Important Pathways in the Pathogenesis of Childhood-onset Systemic Lupus Erythematosus
Katie Heitzman¹, Sneha Dass¹, Linda Hiraki², Earl Silverman³, Christiaan Scott⁴, Ana Barrera-Vargas⁵, Zuoming Deng⁶, Mariana Kaplan⁷, Luis Franco⁸ and Laura Lewandowski⁹, ¹Lupus Genetics and Global Health Disparities Unit, Systemic Autoimmunity Branch, NIAMS, Bethesda, MD, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Silverman, Toronto, ON, Canada, ⁴Paediatric Rheumatology, Red Cross War Memorial Children’s Hospital and University of Cape Town, Cape Town, South Africa, ⁵Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁷Lupus Clinical Trials Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH); Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD, ⁸Functional Immunogenomics Section, Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD, ⁹Lupus Genetics and Global Health Disparities Unit, Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disorder. The pathogenesis of SLE is not fully understood, but high twin/sibling concordance rates suggest…
Abstract Number: 2345 • ACR Convergence 2023
Paired Kidney Biopsies from the AURORA 2 Study of Voclosporin in Active Lupus Nephritis
Samir Parikh¹, Salem Almaani², Arnon Arazi³, Huijuan Song¹, Pearlly Yan¹, Estela Puchulu-Campanella¹, Clint Abner⁴, Ernie Yap⁴, Krista Piper⁴, Robert B. Huizinga⁵ and Henry Leher⁴, ¹Ohio State University, Columbus, OH, ²Ohio State University Medical Center, Columbus, OH, ³Broad Institute of MIT and Harvard, Melrose, MA, ⁴Aurinia Pharmaceuticals Inc., Edmonton, AB, Canada, ⁵Reformation Consulting Services, North Saanich, BC, Canada
Background/Purpose: Voclosporin is approved for the treatment of adults with active lupus nephritis. Addition of voclosporin to mycophenolate mofetil (MMF) and low-dose glucocorticoids in the…
Abstract Number: 0026 • ACR Convergence 2023
Mapping Cellular Landscape of Esophageal Epithelium in Systemic Sclerosis Using Single-cell Transcriptomics
Matthew Dapas¹, Hadijat Makinde², Tyler Therron², Margarette Clevenger², Cenfu Wei², Mary Karns³, Kathleen Aren³, Dustin Carlson², Alexandra Soriano¹, Lutfiyya Muhammad⁴, John Pandolfino⁵, Harris Perlman², Deborah Winter⁶ and Marie-Pier Tetreault², ¹Northwestern University FSM Division of Rheumatology, Chicago, IL, ²Northwestern University, Chicago, IL, ³Northwestern University Division of Rheumatology, Chicago, IL, ⁴Northwestern University Feinberg School of Medicine, Chicago, IL, ⁵Northwestern University, Feinberg School of Medicine, Wilmette, IL, ⁶Northwestern University, Skokie, IL
Background/Purpose: Esophageal involvement is one of the strongest predictors of early mortality in individuals with systemic sclerosis (SSc). Individuals with SSc and esophageal involvement typically…

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