ACR Meeting Abstracts

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Abstracts tagged "genomics"

  • 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…
  • Abstract Number: 0948 • ACR Convergence 2023

    Nintedanib Alters Fibroblast and Macrophage Diversity in a 3D Skin Model of Systemic Sclerosis (SSc)

    Noelle Kosarek1, Tamar Abel2, Sasha Shenk3, Tammara Wood2, Jonathan Garlick4, Patricia Pioli5 and Michael Whitfield5, 1Dartmouth Geisel School of Medicine, Lebanon, NH, 2Dartmouth College, Hanover, NH, 3Tufts University, Boston, MA, 4Tufts University School of Dental Medicine, Boston, MA, 5Geisel School of Medicine at Dartmouth, Hanover, NH

    Background/Purpose: Systemic Sclerosis (SSc) is a rare autoimmune disease characterized by fibrosis of the skin and internal organs. While the tyrosine kinase inhibitor Nintedanib is…
  • Abstract Number: 2431 • ACR Convergence 2023

    Integrated Single Cell Multi-omics Analysis in At-Risk for Future Rheumatoid Arthritis (RA) and Early RA Reveals Shared Transcription Factor Profiles in Multiple Cell Lineages

    Cong Liu1, David Boyle1, Adam Savage2, Marie Feser3, Kristen Demoruelle3, kristine Kuhn4, Michael Holer3, kevin Deane3, Palak Genge2, Morgan Weiss2, Veronica Hernandez2, Julian Reading2, Jane Buckner5, Tom Bumol2, Mark Gillespie2, Peter Skene2, Wei Wang6 and Gary Firestein1, 1University of California San Diego, San Diego, CA, 2Allen Institute for Immunology, Seattle, WA, 3University of Colorado Anschutz Medical Campus, Aurora, CO, 4University of Colorado School of Medicine, Aurora, CO, 5Benaroya Research Institute at Virginia Mason, Seattle, WA, 6University of California San Diego, La Jolla, CA

    Background/Purpose: Identifying molecular signatures associated with anti-citrullinated protein antibody (ACPA) positive individuals who are 'at-risk' for future RA (At-Risk) and early RA (ERA) requires comprehensive…
  • Abstract Number: 0027 • ACR Convergence 2023

    Association of HLA-DRB1 and ANKRD55/IL6ST Regions with Polymyalgia Rheumatica Diagnosis: A Genome Wide Association Study from UK Biobank and FinnGen

    Mehmet Hocaoglu1, Jamal Mikdashi2, James Perry2 and Charles Hong2, 1University of Maryland School of Medicine, Pittsburgh, PA, 2University of Maryland School of Medicine, Baltimore, MD

    Background/Purpose: The existing literature on the genetics of polymyalgia rheumatica (PMR) is limited to candidate gene studies with small sample sizes. There is a need…
  • Abstract Number: 0958 • ACR Convergence 2023

    Shared Genetic Susceptibility Between Systemic Sclerosis and Primary Biliary Cholangitis: Analyses from Genome-Wide Association Studies

    Yiming Luo1, Atlas Khan2, Gabriel Perreault3, Lili Liu2, Cue Hyunkyu Lee4, Pravitt Gourh5, Sydney Pomenti3, Krzysztof Kiryluk2 and Elana Bernstein6, 1Division of Rheumatology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, 2Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, 3Division of Digestive and Liver Diseases, Department of Medicine, Columbia University Irving Medical Center, New York, NY, 4Department of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, NY, 5National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 6Division of Rheumatology, Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY

    Background/Purpose: Systemic sclerosis (SSc) is a multi-system autoimmune disorder characterized by organ inflammation, fibrosis, and vasculopathy. Primary biliary cholangitis (PBC) is an autoimmune disorder involving…
  • Abstract Number: 2451 • ACR Convergence 2023

    TET2 Clonal Hematopoiesis and Incident Rheumatoid Arthritis: Results from the UK Biobank

    Karen Costenbader1, Zhi Yu2, Emily G. Oakes3, Michelle Robinette4, Mridul Agarwal5, Buu Truong6, Md Mesbah Uddin6, Alexander Bick7, Abhishek Niroula6, Daniel Solomon3 and Pradeep Natarajan8, 1Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 2Broad Institute; Massachusetts General Hospital, Cambridge, MA, 3Brigham and Women's Hospital, Boston, MA, 4Brigham and Women's Hospital; Dana-Farber Cancer Institute, Boston, MA, 5Dana-Farber Cancer Institute, Boston, MA, 6Broad Institute, Cambridge, MA, 7Broad Institute; Vanderbilt University Medical Center, Nashville, TN, 8Broad Institute; Massachusetts General Hospital, Boston, MA

    Background/Purpose: Clonal hematopoiesis (CH), the clonal expansion of somatically mutated blood cells in people without hematologic malignancy, is found in ~10% of people age ≥…
  • Abstract Number: 0031 • ACR Convergence 2023

    A Systematic Approach for Identifying Causal Variants and Their Target Genes on JIA Risk Haplotypes

    Kaiyu Jiang1, tao liu2, Ryan Tewhey3, Susan Kales3, Yungki Park4 and James N Jarvis5, 1University at Buffalo, Buffalo, NY, 2Roswell Park Cancer Institute, Buffalo, NY, 3Jackson Laboratories, Bar Harbor, ME, 4University at Buffalo Jacobs School of Medicine & Biomedical Sciences, Buffalo, NY, 5University at Buffalo Jacobs School of Medicine, Buffalo, NY

    Background/Purpose: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA).However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk…
  • Abstract Number: 1148 • ACR Convergence 2023

    A Comparative Study of Clinical Phenotype in Relation to NOD2 Sub-genotypes in Yao Syndrome

    Ashmia Saif1, Hafsa Nomani2, Frank Hwang2, Jie Yang2 and Qingping Yao2, 1Stony Brook University Hospital, Syosset, NY, 2Stony Brook University, Stony Brook, NY

    Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. Most patients…
  • Abstract Number: 0035 • ACR Convergence 2023

    Using Genotyping and Functional Data from Monocytes to Identify Risk-Driving SNPs on JIA Risk Haplotypes

    Emma Haley1, gilad Barshad2, Adam He2, Edward J Rice3, Elizabeth Crinzi1, Marc Sudman4, Susan Thompson5, Charles G Danko3 and James N Jarvis6, 1Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY, 2Cornell University, Ithaca, NY, 3Baker Institute of Animal Health Cornell University, Ithaca, NY, 4Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 5Cincinnati Children's Hospital Medical Center/University of Cincinnati College of Medicine, Blue Ash, OH, 6University at Buffalo Jacobs School of Medicine, Buffalo, NY

    Background/Purpose: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA).However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk…
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All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, 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 of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

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