Abstracts tagged "Bioinformatics"

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: 1860 • ACR Convergence 2020
An Integrative Approach to Identify Heritable and De Novo Genomic Variations in Psoriatic Arthritis Mutilans and Understand Its Systems Biology
Sara Rahmati¹, Quan Li¹, Dafna Gladman², Proton Rahman³ and Vinod Chandran², ¹University Health Network, Toronto, ON, Canada, ²Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ³Memorial University of Newfoundland, Department of Medicine, St John's, Canada
Background/Purpose: Psoriasis is a chronic autoimmune skin disease that burdens ~3% of North Americans. ~24% of psoriatic patients develop psoriasis arthritis (PsA), an inflammatory disease…
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: 1955 • ACR Convergence 2020
High-throughput Identification of Functional Regulatory SNPs Associated with Systemic Lupus Erythematosus
Qiang Wang¹, Marta Martínez², Matthew Weirauch³ and Peter Nigrovic⁴, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Boston, ³Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, Boston
Background/Purpose: Systemic lupus erythematosus (SLE) is a disease involves the complex interplay of many genes, reflected in more than one hundred loci linked with disease…
Abstract Number: 0500 • ACR Convergence 2020
Genomic, Phenomic, Proteomic Predictors of Psoriatic Arthritis
Jessica Walsh¹, Sophie Belman², Courtney Carroll², Michael Milliken², Benjamin Haaland², Kristina Callis Duffin², Gerald Krueger² and Bing-jian Feng², ¹University of Utah School of Medicine, George E. Wahlen Veteran Affairs Medical Center, Salt Lake City, UT, ²University of Utah, Salt Lake City, UT
Background/Purpose: Delays in diagnosis of psoriatic arthritis (PsA) are common and impair quality of life and function. The study objective was to identify phenotypes, genetic…
Abstract Number: 1989 • ACR Convergence 2020
NXP2 Autoantibodies Link to Interferon Signature in Juvenile Myositis Lesional Skin
Jessica Turnier¹, Lauren Pachman², Lori Lowe³, Alex Tsoi³, Sultan Elhaj¹, Rajasree Menon¹, Maria Amoruso², Gabrielle Morgan⁴, Johann Gudjonsson⁵, Celine Berthier³ and J Michelle Kahlenberg¹, ¹University of Michigan, Ann Arbor, MI, ²Northwestern University Feinberg School of Medicine, Chicago, IL, ³University of Michigan, Ann Arbor, ⁴Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, IL, ⁵University of Michigan, Ann ArborUniversity of Michigan
Background/Purpose: Skin inflammation can herald systemic disease in juvenile myositis (JM), yet we lack an understanding of pathogenic mechanisms driving skin inflammation in JM. The…
Abstract Number: 0502 • ACR Convergence 2020
Integration of Clinical and Protein Markers Through Machine Learning to Distinguish Patients with Psoriasis Arthritis from Those with Psoriasis Without Psoriatic Arthritis
Sara Rahmati¹, Fatima Abji¹, Proton Rahman² and Vinod Chandran³, ¹University Health Network, Toronto, ON, Canada, ²Memorial University of Newfoundland, Department of Medicine, St John's, Canada, ³Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada
Background/Purpose: Psoriatic Arthritis (PsA) is a progressive inflammatory arthritis that occurs in about 24% of psoriasis patients. Early diagnosis of PsA is associated with better…
Abstract Number: 0752 • ACR Convergence 2020
Serum Proteomics Implicates Neutrophil Degranulation in Rheumatoid Arthritis Disease Activity
Liam O'Neil¹, Vidyanand Anaparti¹, Dana Wiens¹, Irene Smolik¹, Xiaobo Meng¹ and Hani El-Gabalawy¹, ¹University of Manitoba, Winnipeg, MB, Canada
Background/Purpose: Though targeted therapeutics have improved outcomes in Rheumatoid Arthritis (RA) treatment, the understanding of the underlying biological mechanisms that mediate inflammatory arthritis in RA…
Abstract Number: 0764 • ACR Convergence 2020
Uncovering Novel Biomarkers for Rheumatoid Arthritis from Feature Selection and Machine Learning Approaches on Synovium and Blood Gene Expression Data
Dmitry Rychkov¹, Jessica Neely¹ and Marina Sirota¹, ¹UCSF, San Francisco, CA
Background/Purpose: There is an urgent need to develop objective biomarkers for early diagnosis and monitoring of disease activity in Rheumatoid arthritis (RA). Here we define…
Abstract Number: 0774 • ACR Convergence 2020
Nr4a1-high Arthritogenic T Cells from SKG Mice Are Associated with Markers of Recent and Chronic Antigen-stimulation and an Altered T Cell Receptor Repertoire
Judith Ashouri-Sinha¹, Elizabeth McCarthy¹, Steven Yu², Chun Jimmie Ye¹ and Arthur Weiss¹, ¹UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, San Francisco, CA, ²UNIVERSITY OF CALIFORNIA, SAN FRANCISCO, San Francsico, CA
Background/Purpose: T cells can either be activated through their T cell receptor (TCR) in an antigen-specific manner, or in response to cytokines. Identification of antigen-reactive…
Abstract Number: 0779 • ACR Convergence 2020
Antibody Responses to Epstein-Barr Virus Are Altered in the Pre-Clinical Period of Rheumatoid Arthritis
Sabrina Fechtner¹, Heather Berens², Elizabeth Bemis³, M Kristen Demoruelle², Carla J. Guthridge⁴, John Harley⁵, Judith James⁶, Jess Edison⁷, Kevin D. Deane⁸, Jill Norris⁹ and V. Michael Holers², ¹University of Colorado, Aurora, CO, ²University of Colorado, Denver, CO, ³Colorado School of Public Health Anschutz Medical Campus, Aurora, CO, ⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁵Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH, ⁶Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation;Department of Pathology, University of Oklahoma Health Sciences Center;Department of Medicine, University of Oklahoma Health Sciences Center, Edmond, OK, ⁷Walter Reed National Military Medical Center, Bethesda, ⁸2 Division of Rheumatology, University of Colorado School of Medicine, Anschutz Medical Campus, Aurora, CO, USA, Colorado, ⁹Colorado School of Public Health, Aurora, CO
Background/Purpose: Viral infections, including infection with Epstein-Barr virus (EBV), have been suggested as environmental risk factors for rheumatoid arthritis (RA). EBV infections are known to…
Abstract Number: 0786 • ACR Convergence 2020
A Combination of Dimensionality Reduction Techniques Reveals Novel HLA-DR+ ‘Candidate’ Antigen-Presenting Cell Subsets (cAPC) in Patients with Rheumatoid Arthritis (RA)
Christian Geier¹, Jon Giles¹, Samantha Gaines², Christopher Depender¹, Joan Bathon¹ and Robert Winchester¹, ¹Division of Rheumatology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, ²Division of Rheumatology, Columbia University Vagelos College of Physicians and Surgeons, New York
Background/Purpose: The presentation of MHC-peptide complexes to T lymphocytes via antigen-presenting cells (APC) is a crucial step in the initiation of immune responses. Dendritic cells…
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: 110 • 2019 ACR/ARP Annual Meeting
Bioinformatics Analysis of Transcriptomics Data Reveals That SRSF1 Is a Novel Molecular Brake for the T Cell Activation Program and Controls Key Cytokine Signaling Genes Implicated in Systemic Lupus Erythematosus
Rhea Bhargava¹, Michelle S. Lee ², Takayuki Katsuyama ³ and Vaishali R. Moulton ³, ¹Beth Israel Deaconess Medical Center Harvard Medical School, Boston, MA, ²Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, ³Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA
Background/Purpose: T cells from systemic lupus erythematosus (SLE) patients exhibit a hyperactive phenotype with defects in homeostasis, signaling and cytokine production. By discovery approaches, we…
Abstract Number: 200 • 2019 ACR/ARP Annual Meeting
A Validated Text-mining Algorithm to Extract Rheumatoid Arthritis Medication Contained in Format-free Fields of Electronic Medical Records
Tjardo Maarseveen¹, Thomas Huizinga ¹, Marcel J.T. Reinders ¹, Erik van den Akker ¹ and Rachel Knevel ¹, ¹Leiden University Medical Center, Leiden, Netherlands
Background/Purpose: Rapidly expanding collections of Electronic Medical Records (EMR) form a valuable resource for clinical research. Besides entries with a standardized format, EMRs often also…

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.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].