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: 007 • 2020 Pediatric Rheumatology Symposium
Dense Genotyping of Immunologic Loci Identifies CXCR4 as a Novel Susceptibility Locus for Systemic Juvenile Idiopathic Arthritis
Emily Shuldiner ¹, Elaine Remmers ², Miranda Marion ³, Marc Sudman ⁴, Colleen Satorius ⁵, International Childhood Arthritis Genetics Consortium (INCHARGE), Juvenile Arthritis Consortium for the Immunochip (JACI), Wendy Thomson ⁶, Michael Ombrello¹, Patricia Woo ⁷, Carl Langefeld ⁸, Sampath Prahalad ⁹ and Susan Thompson ¹⁰, ¹NIAMS, NIH, Bethesda, ²National Human Genome Research Institute, Bethesda, ³Wake Forest University, Winston-Salem, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, ⁵NHGRI, NIH, Bethesda, ⁶Manchester Academic Health Science Centre, Manchester, United Kingdom, ⁷London, United Kingdom, ⁸Winston Salem, ⁹Emory + Children's Pediatric Institute, Atlanta, ¹⁰Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a severe, potentially lethal inflammatory condition. It accounts for a disproportionate share of morbidity and mortality among childhood…
Abstract Number: 1018 • 2019 ACR/ARP Annual Meeting
Renal Single Cell Genomics Links Type II Interferon and Lupus Nephritis in African-Americans
Andrea Fava¹, Yuji Zhang ², Jill Buyon ³, Chaim Putterman ⁴, Nir Hacohen ⁵, Arnon Arazi ⁵, Celine Berthier ⁶, Deepak Rao ⁷, Michael Brenner ⁸, David Wofsy ⁹, Anne Davidson ¹⁰, Mathias Kretzler ¹¹, David Hildeman ¹², E. Steve Woodle ¹², Betty Diamond ¹⁰, Thomas Tuschl ¹³, Evan Der ¹⁴, Hemant Suryawanshi ¹³, H. Michael Belmont ¹⁵, Peter Izmirly ¹⁶, Robert Clancy ¹⁶, The Accelerating Medicines Partnership ¹⁷ and Michelle Petri ¹⁸, ¹Johns Hopkins University, Baltimore, ²University of Maryland, Baltimore, ³NYU School of Medicine, New York, ⁴Albert Einstein College of Medicine, New York, NY, ⁵Broad Institute, Cambridge, ⁶University of Michigan, Ann Arbor, MI, ⁷Brigham and Women's Hospital, Boston, MA, ⁸Brigham and Women’s Hospital:, Boston, ⁹UCSF, San Francisco, ¹⁰Feinstein Institutes for Medical Research, Manhasset, ¹¹University of Michigan, Ann Arbor, ¹²University of Cincinnati, Cincinnati, ¹³Rockefeller Research Laboratories, New York, ¹⁴Albert Einstein College of Medicine, New York, ¹⁵New York University School of Medicine, Ney York, ¹⁶New York University School of Medicine, New York, ¹⁷Multiple Organizations, USA, ¹⁸Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: Compared to Caucasian, African-American ethnicity is associated with a higher risk of developing systemic lupus erythematosus, lupus nephritis, high-risk histological features, resistance to treatment,…
Abstract Number: 1039 • 2019 ACR/ARP Annual Meeting
Molecular Profiling Identifies Immunologic Subgroups and Informs Mechanism of Action of Baricitinib in SLE
Thomas Dörner¹, Yoshiya Tanaka ², Michelle Petri ³, Josef Smolen ⁴, Daniel Wallace ⁵, Ernst Dow ⁶, Damiano Fantini ⁶, Richard Higgs ⁶, Guilherme Rocha ⁶, Brenda Crowe ⁶, Robert Benschop ⁶, Adam Abel ⁶, Nicole Byers ⁶, Maria Silk ⁶, Stephanie de Bono ⁶ and Robert Hoffman ⁶, ¹Charite Universitätsmedizin Berlin and DRFZ, Berlin, Germany, ²University of Occupational and Environmental Health Japan, Kitakyushu, Japan, ³Johns Hopkins University School of Medicine, Baltimore, MD, ⁴Medical University of Vienna, Vienna, Austria, ⁵Cedars-Sinai Medical Center/University California at Los Angeles, Los Angeles, CA, ⁶Eli Lilly and Company, Indianapolis, IN
Background/Purpose: Baricitinib is an oral selective Janus kinase (JAK) 1 and JAK2 inhibitor. In the Phase II, 24-week, randomized, placebo-controlled, double-blind study JAHH (NCT02708095), once-daily…
Abstract Number: 1041 • 2019 ACR/ARP Annual Meeting
Computational Methods for Drug Repositioning of Systemic Sclerosis Using Gene Fold-Change and Network Analyses
Dillon Popovich¹, Michael Whitfield ², Yue Wang ³, Guoshuai Cai ⁴ and Mengqi Huang ⁵, ¹Geisel School of Medicine at Dartmouth College, Hanover, ²Geisel School of Medicine at Dartmouth College, Biomedical Data Science at Dartmouth College, Hanover, ³Geisel School of Medicine at Dartmouth, Hanover, NH, ⁴Arnold school of Public Health, University of South Carolina, Columbia, SC, ⁵Geisel School of Medicine at Dartmouth College, Hanover, NH
Background/Purpose: Clinical trials with systemic sclerosis (SSc) patients have yet to lead to an FDA approved treatment. We have adopted a gene fold-change analysis called…
Abstract Number: 2012 • 2019 ACR/ARP Annual Meeting
A Composite IFN-Based Signature Is Associated with a Filgotinib-Specific Clinical Response in bDMARD-Experienced Rheumatoid Arthritis Patients
Peter Taylor¹, Bryan Downie ², Emon Elboudwarej ³, Rachael Hawtin ³, Amer M. Mirza ³ and Jinfeng Liu ³, ¹University of Oxford, Oxford, United Kingdom, ²Gilead Sciences, Inc., Foster Citty, CA, ³Gilead Sciences, Inc., Foster City, CA
Background/Purpose: Filgotinib (FIL), an oral, selective, Janus Kinase 1 (JAK1) inhibitor was effective in Phase 3 studies of active RA in patients (pts) with inadequate…
Abstract Number: 55 • 2019 ACR/ARP Annual Meeting
A Novel Subclass of Intravascular Non-classical, Tissue Resident Synovial Monocyte Is Critical for Rheumatoid Arthritis Pathogenesis
Anna Montgomery ¹, Shang-Yang Chen ¹, Deborah Winter ² and Harris Perlman², ¹Northwestern University, Chicago, ²Northwestern University Feinberg School of Medicine, Division of Rheumatology, Chicago
Background/Purpose: There are at least three populations of circulating monocytes; classical, intermediate and non-classical. We demonstrated that circulating non-classical monocytes are required for the effector…
Abstract Number: 579 • 2018 ACR/ARHP Annual Meeting
Changes in DNA Methylation Identify Response to Treatment with Methotrexate and TNF Inhibitors Among RA Patients
Cameron Adams¹, Katie Marker¹, Melissa Krueger², Lisa Barcellos¹ and Lindsey A. Criswell³, ¹School of Public Health, UC Berkeley, Berkeley, CA, ²UC San Francisco, San Francisco,, CA, ³University of California San Francisco, San Francisco, CA
Background/Purpose: Epigenetic modifications including DNA methylation are implicated in the development and progression of autoimmune diseases, such as rheumatoid arthritis [MIM 180300]. Evidence indicates that…

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Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. 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 a scientific presentation or presentation of additional new information that will be available at the time of the meeting) is under embargo until Saturday, November 11, 2023.

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