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Abstracts tagged "genomics"

  • Abstract Number: 0175 • ACR Convergence 2020

    Identifying Immuno-phenotypes in Juvenile Localized Scleroderma with RNA Sequencing

    Christina Schutt1, Emily Mirizio2, Kaila Schollaert-Fitch2, Claudia Salgado3, Miguel Reyes-Mugica3 and Kathryn Torok2, 1University of Pittsburgh Medical Center, Pittsburgh, PA, 2University of Pittsburgh, Pittsburgh, PA, 3University of Pittsburgh Medical Center, Pittsburgh

    Background/Purpose: Juvenile localized scleroderma (jLS) is an autoimmune disease of the skin and underlying tissue characterized by an early inflammatory infiltrate followed by fibrosis and…
  • Abstract Number: 1969 • ACR Convergence 2020

    The Dynamics of Macrophage Sub-Populations in the Inflammatory Phase Following Joint Trauma

    Samuel Hamilton1, Anna Montgomery1, Niamh Fahy2, Maximilian Mayr1, Shang-Yang Chen1, Gaurav Gadhvi1, Yvonne Bastiaansen-Jenniskens2 and Deborah Winter3, 1Northwestern University, Chicago, IL, 2Erasmus MC, Rotterdam, Netherlands, 3Northwestern University Division of Rheumatology, Chicago, IL

    Background/Purpose: Macrophages fulfill critical functions in maintaining tissue homeostasis in steady-state, as well as in inflammation and immune response.  In the joint synovium, we have…
  • Abstract Number: 0471 • ACR Convergence 2020

    Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients

    Adriana de Jesus1, Sofia Torreggiani2, Bin Lin2, Jacob Mitchell2, Eric Karlins3, Andrew Oler3, Sara Alehashemi4, Dana Kahle5, Katelin R. Honer2, Gema Souto Adeva2, Eric Hanson6, Gina Montealegre Sanchez7, Amer Khojah8, Timothy Moran9, Eveline Wu9, Chris Scott10, Timothy Ronan Leahy11, Emma Jane MacDermott11, Orla Killeen12, Thaschawee Arkachaisri13, Zoran Gucev14, Kathryn Phillippi15, Vafa Mammadova16, Gulnara Nasrullayeva16 and Raphaela Goldbach-Mansky17, 1Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, 2Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, 3Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, 4Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, 5Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, 6Indiana University School of Medicine, Indianapolis, IN, 7NIAID/NIH, Rockville, MD, 8Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, 9UNC Chapel Hill, Chapel Hill, NC, 10University of Cape Town, Cape Town, South Africa, 11Our Lady's Children's Hospital, Dublin, Ireland, 12National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland, 13Duke-NUS Medical School, Singapore, Singapore, 14University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, 15Akron Children’s Hospital, Akron, OH, 16Azerbaijan Medical University, Baku, Azerbaijan, 17Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD

    Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…
  • Abstract Number: 0495 • ACR Convergence 2020

    Epstein Barr Virus (EBV), an Etiologic Factor for Systemic Lupus Erythematosus (SLE), Interacts with SLE Risk Loci Through EBV-encoded Transcription Co-factors (co-TFs)

    Viktoryia Laurynenka1, Xiaoting Chen1, Sreeja Parameswaran1, Shruti Eswar2, Kenneth Kaufman3, Bahram Namjou4, Matthew Weirauch5, Leah Kottyan4 and John Harley6, 1Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 2Cincinnati Children’s Hospital Medical Center, Cincinnati, 3Cincinnati Children’s Hospital Medical Center;US Department of Veterans Affairs Medical Center, Cincinnati, OH, 4Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, Cincinnati, OH, 5Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, 6Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH

    Background/Purpose: SLE affects millions worldwide. The etiology of this complex autoimmune disease is the consequence of both strong genetic and environmental components. Genome-wide association studies…
  • Abstract Number: 0659 • ACR Convergence 2020

    Polynesian-Specific Gout-Associated Frameshift Variant in PRPSAP1

    Megan Leask1, Nicola Dalbeth2, Lisa Stamp3, Tony Merriman4, Amanda Phipps-Green4, Ruth Topless4, James Boocock5, Hyon Choi6, Keresoma Leaupepe1 and Eli Stahl7, 1University of Otago, Dunedin, Otago, New Zealand, 2University of Auckland, Auckland, New Zealand, 3University of Otago Christchurch, Christchurch, New Zealand, 4University of Otago, Dunedin, New Zealand, 5David Geffen School of Medicine at UCLA, Los Angeles, CA, 6Massachusetts General Hospital, Department of Medicine, Division of Rheumatology, Lexington, MA, 7Mt Sinai School of Medicine, New York, NY

    Background/Purpose: Polynesian (NZ Māori and Pacific) populations have increased prevalence of gout. Hyperuricaemia is contributed to by increased urate production in the liver via the…
  • Abstract Number: 0661 • ACR Convergence 2020

    Genomic Regions Jointly Associated with eGFR and Serum Urate: Implications for Shared Genetic Etiology of Hyperuricemia and Chronic Kidney Disease

    Nick Sumpter1, Alexa Lupi2, Megan Leask3, Tony Merriman4, Ana Vazquez2 and Richard Reynolds1, 1University of Alabama at Birmingham, Birmingham, AL, 2Michigan State University, East Lansing, MI, 3University of Otago, Dunedin, Otago, New Zealand, 4University of Otago, Dunedin, New Zealand

    Background/Purpose: Gout and hyperuricemia (HU), serum urate (SU) > 6.8 mg/dL, often present in the context of chronic kidney disease. It has long been known…
  • Abstract Number: 0700 • ACR Convergence 2020

    Lipoxin A4 Induces Lipid Class Switching and Inflammation Resolution at the Genomic Level in Human Osteoarthritis

    Mandar Dave1, Abul Islam2, Akshat Parekh3, Jay Patel4, Arushi Chawla5 and Ashok Amin6, 1Department of Rheumatology and Pathology, New York University Hospital for Joint Diseases, New York, 2Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka, Bangladesh, 3Rutgers Robert Wood Johnson Medical School, Piscataway, NJ, 4Northeast Ohio Medical University, Rootstown, OH, 5Gujarat Forensic Science University, Gujarat, India, 6Department of Rheumatology and Pathology, New York University Hospital for Joint Diseases, New York, NY

    Background/Purpose: Human OA-affected cartilage does not show the cardinal signs of inflammation (redness and swelling with heat and pain—rubor et tumor cum calore et dolor) because…
  • Abstract Number: 0839 • ACR Convergence 2020

    Single-Cell Transcriptomics of Mouse and Human Lupus Nephritis Identifies Conserved Myeloid Populations Across Species

    Paul Hoover1, Michael Peters2, David Lieb3, Rakesh Mishra4, Nir Hacohen2 and Anne Davidson5, 1Brigham and Women's Hospital, Boston, MA, 2Broad Institute, Boston, 3Broad Institute, Boston, MA, 4Feinstein Institute, Manhasset, NY, 5Northwell Health, New York

    Background/Purpose: We recently identified novel immune cell states in the kidneys of lupus nephritis patients (Arazi et al, Nature Immunology 2019). To determine the similarities…
  • Abstract Number: 0936 • ACR Convergence 2020

    Urine Proteomics and Single Cell Transcriptomics Identify IL-16 as a Biomarker for Lupus Nephritis

    Andrea Fava1, Jill Buyon2, Chandra Mohan3, Ting Zhang3, H. Michael Belmont4, Peter Izmirly5, Robert Clancy6, Jose Monroy-Trujillo7, Celine Berthier8, Anne Davidson9, Nir Hacohen10, David Wofsy11, Deepak Rao12, Soumya Raychaudhuri13, The Accelerating Medicines Partnership in SLE Network14, William Apruzzese15 and Michelle Petri16, 1Johns Hopkins University, Baltimore, MD, 2Department of Medicine, NYU School of Medicine, New York, NY, 3UT Houston, Houston, 4New York University, New York, NY, 5Department of Medicine, New York University School of Medicine, New York, NY, 6NYU School of Medicine, New York, 7Johns Hopkins University, Baltimore, 8University of Michigan, Ann Arbor, 9Northwell Health, New York, 10Broad Institute, Boston, 11University of California San Francisco, San Francisco, CA, 12Brigham and Women's Hospital, Boston, MA, 13Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, 14Multiple Institutions, Multiple Cities, 15., Boston, 16Johns Hopkins University School of Medicine, Timonium, MD

    Background/Purpose: Treatment of lupus nephritis relies on renal histopathological features. However, renal biopsies do not capture patient-specific active biological pathways. Urine proteomic biomarkers could revolutionize…
  • Abstract Number: 0979 • ACR Convergence 2020

    The Identification of Shared and Unique Myeloid Cell States in Pre- and Post-nephritic Lupus Mouse Models, Sle.Yaa1 and NZBW

    Paul Hoover1, Michael Peters2, David Lieb3, Heather Geiger4, Rakesh Mishra5, Nir Hacohen2 and Anne Davidson6, 1Brigham and Women's Hospital, Boston, MA, 2Broad Institute, Boston, 3Broad Institute, Boston, MA, 4New York Genome Center, New York, NY, 5Feinstein Institute, Manhasset, NY, 6Northwell Health, New York

    Background/Purpose:Poor renal prognosis in lupus nephritis (LN) is associated with an abundance of renal macrophages and dendritic cells (DCs) but the role of these cells…
  • Abstract Number: 1443 • ACR Convergence 2020

    High-dimensional Analyses of Checkpoint-inhibitor Related Arthritis Synovial Fluid Cells Reveal a Unique, Proliferating CD38hi Cytotoxic CD8 T Cell Population Induced by Type I IFN

    Runci Wang1, Karmela Kim Chan2, Amy Cunningham-Bussel1, Gregory Vitone3, Aidan Tirpack2, Caroline Benson2, Gregory Keras4, Anna Helena Jonsson5, Michael Brenner5, Laura Donlin6, Anne Bass7 and Deepak Rao1, 1Brigham and Women's Hospital, Boston, MA, 2Hospital For Special Surgery, New York, NY, 3Hospital for Special Surgery, New York, 4Brigham and Women’s Hospital, Division of Rheumatology, Inflammation, and Immunity, Boston, MA, 5Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 6Hospital for Special Surgery, Weill Cornell Medicine, New York, 7Hospital for Special Surgery/Weill Cornell Medicine, New York, NY

    Background/Purpose: Checkpoint inhibitors (CI) used to treat cancer frequently trigger immune-related adverse events, including inflammatory arthritis. CI-related arthritis (CIrA) occurs in ~5% of treated patients,…
  • Abstract Number: 1452 • ACR Convergence 2020

    Transcriptomic Meta-analysis Reveals a Core Transcriptional Program in Murine B Cell Anergy and Implicates Immunometabolic Regulation as a Central Pathway in Maintaining Non-responsiveness of Autoreactive B-cells in Both Mouse and Man

    Isaac Harley1, Bergren Crute2, Andrew Getahun2 and John Cambier3, 1University of Colorado Anschutz Medical Campus, Aurora, CO, 2University of Colorado – Anschutz Medical Campus, Aurora, 3Univ, Aurora

    Background/Purpose: The mechanisms self-tolerance loss that lead to autoantibody-mediated autoimmune disease remain underdefined. The rapid reversibility of peripheral B-cell tolerance in murine models suggests that…
  • Abstract Number: 1787 • ACR Convergence 2020

    Differences in Chromatin Architecture Between Treatment Naïve Pediatric and Adult Lupus Patients

    Joyce Hui-Yuen1, Frank Jenkins2, Kaiyu Jiang3, Susan Malkiel4, Betty Diamond4 and James Jarvis5, 1Northwell LIJ Health System, Manhasset, NY, 2Northwell Health, Manhasset, 3University at Buffalo, Buffalo, NY, 4Northwell Health, Manhasset, NY, 5University at Buffalo Jacobs School of Medicine, Buffalo, NY

    Background/Purpose: Systemic lupus erythematosus (SLE) is possibly triggered by gene-environment interactions. We showed most of the SLE haplotypes encompass genomic regions enriched for epigenetic marks…
  • Abstract Number: 0027 • ACR Convergence 2020

    CYP2D6 Genotype and Reduced Codeine Analgesic Effect in Real-World Clinical Practice

    Daniel Carranza Leon1, Alyson Dickson2, Andrea Gaedigk3, C. Michael Stein2 and Cecilia Chung2, 1Vanderbilt University Medical Center, Nashville, TN, 2Vanderbilt University Medical Center, Nashville, 3University of Missouri, Kansas City

    Background/Purpose: Codeine, a widely prescribed analgesic, is an inactive pro-drug that is metabolized to morphine, the active drug, by cytochrome P450 2D6 (CYP2D6), a highly…
  • Abstract Number: 1815 • ACR Convergence 2020

    Dynamic Changes in Microbiota Representation of a Gut Pathobiont and Clinical Disease Activity in Patients with Lupus Nephritis

    Doua Azzouz1, Ze Chen2, Zhi Li3, Peter Izmirly4, Jing Deng1, David Fenyo3, Jill Buyon1, Alexander Alekseyenko5 and Gregg Silverman6, 1Department of Medicine, NYU School of Medicine, New York, NY, 2Department of Microbiology, NYU School of Medicine, New York, NY, 3Institute for Systems Genetics, NYU School of Medicine, New York, NY, 4Department of Medicine, New York University School of Medicine, New York, NY, 5Medical University of South Carolina, Charleston, SC, 6Laboratory of B cell immunobiology, Department of Medicine, NYU School of Medicine, New York, NY

    Background/Purpose: From a cross-sectional cohort, we have recently identified a candidate human gut pathobiont, Ruminococcus gnavus (RG) of the Lachnospiraceae family and Blautia genus that…
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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 CT on October 25. 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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