Abstracts tagged "Bioinformatics"

Abstract Number: 976 • 2019 ACR/ARP Annual Meeting
Identification of Novel Genes Associated with Dysregulation of B Cells in Patients with Primary Sjögren’s Syndrome
Jun Inamo¹, Katsuya Suzuki ², Masaru Takeshita ², Yoshiaki Kassai ³, Maiko Takigchi ⁴, Rina Kurisu ⁴, Yuumi Okuzono ⁴, Shinya Tasaki ⁵ and Tsutomu Takeuchi ⁶, ¹Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Tokyo, Tokyo, Japan, ²Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan, ³Immunology Unit, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Shinjuku-ku, Tokyo, Japan, ⁴Immunology Unit, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Shinjuku-ku, Japan, ⁵Integrated Technology Research Laboratories, Pharmaceutical Research Division, Takeda Pharmaceutical Company Limited, Shinjuku-ku, Japan, ⁶Keio University School of Medicine, Tokyo, Japan
Background/Purpose: Dysregulation of B cells play a critical role in the pathogenesis of primary Sjögren’s syndrome (pSS). Long non-coding RNAs (lncRNAs), which have become the…
Abstract Number: 1930 • 2019 ACR/ARP Annual Meeting
Analysis of Lupus Nephritis Gene Expression Reveals Dysregulation of Pathogenic Pathways Activated Within Infiltrating Cells
Adam Labonte¹, Jackson Xu ², Sarah Heuer ², Robert Robl ², Prathyusha Bachali ¹, Michelle Catalina ¹, Peter Lipsky ³ and Amrie Grammer ⁴, ¹AMPEL Biosolutions and the RILITE Research Institute, Charlottesville, VA, ²AMPEL BioSolutions, Charlottesville, VA, ³AMPEL BioSolutions, LLC, Charlottesville, VA, ⁴AMPEL BioSolutions and RILITE Research Institute, Charlottesville, VA
Background/Purpose: LN is a serious complication of SLE that affects about 20-40% of all lupus patients and leads to kidney damage, end-stage renal disease, and…
Abstract Number: 1933 • 2019 ACR/ARP Annual Meeting
Tumorigenesis Related Gene Identification in Dermatomyositis Using Meta-Analysis
Jihad Aljabban¹, Saad Syed ², Sharjeel Syed ³, Kalyn Hoffman ⁴, Laith Hasan ⁵, Nikhil Adapa ¹, Zahir Allarakhia ⁶, Dexter Hadley ⁷, Mohamad Aljabban ⁸ and Wael Jarjour ⁹, ¹Ohio State University College of Medicine, Columbus, ²Stanford School of Medicine, Stanford, ³Stanford School of Medicine, Stanford, CA, ⁴The Ohio State University College of Medicine, Columbus, OH, ⁵Tulane School of Medicine, New Orleans, ⁶Ohio State University College of Medicine, Columbus, OH, ⁷Institute for Computational Health Sciences, San Francisco, ⁸Genesys Health Systems, Grand Blanc, MI, ⁹Ohio State College of Medicine, Columbus, OH
Background/Purpose: Dermatomyositis (DM) is a progressive, systemic autoimmune disease-causing inflammatory changes in the skin and skeletal muscles. DM is associated with carcinomas of the ovary,…
Abstract Number: 1934 • 2019 ACR/ARP Annual Meeting
Tripartite Motif (TRIM) Gene Family Expression in Dermatomyositis
Jihad Aljabban¹, Sharjeel Syed ², Saad Syed ³, Zarife Sahenk ⁴, Noah Weisleder ⁵, Kevin McElhanon ⁵, Kalyn Hoffman ⁶, Nikhil Adapa ¹, Zahir Allarakhia ⁷, Laith Hasan ⁸, Dexter Hadley ⁹, Mohamad Aljabban ¹⁰ and Wael Jarjour ¹¹, ¹Ohio State University College of Medicine, Columbus, ²Stanford School of Medicine, Stanford, CA, ³Stanford School of Medicine, Stanford, ⁴Department of Neurology, Research Institute at Nationwide Children’s Hospital, Columbus, OH, ⁵Dorothy M. Davis Heart and Lung Research Institute & Dept. of Physiology & Cell Biology, The Ohio State University Wexner Medical Center, Columbus, OH, ⁶The Ohio State University College of Medicine, Columbus, OH, ⁷Ohio State University College of Medicine, Columbus, OH, ⁸Tulane School of Medicine, New Orleans, ⁹Institute for Computational Health Sciences, San Francisco, ¹⁰Genesys Health Systems, Grand Blanc, MI, ¹¹Ohio State College of Medicine, Columbus, OH
Background/Purpose: Dermatomyositis (DM) is a progressive, systemic autoimmune disease causing inflammatory changes to the skin and skeletal muscles. TRIM family proteins are composed of approximately…
Abstract Number: 1939 • 2019 ACR/ARP Annual Meeting
Analysis of Discoid Lupus Erythematosus (DLE) Gene Expression Reveals Dysregulation of Pathogenic Pathways Associated with Infiltrating Immune/Inflammatory Cells
Frances Harris¹, Sarah Heuer ², Robert Robl ², Prathyusha Bachali ², Adam Labonte ², Benjamin Chong ³, Michelle Catalina ², Peter Lipsky ² and Amrie Grammer ², ¹RILITE Research Institute, Charlottesville, VA, ²RILITE Research Institute, Charlottesville, ³University of Texas Southwestern, Dallas
Background/Purpose: DLE is a chronic, scarring inflammatory autoimmune disease of the skin. The precise molecular pathways underlying DLE pathogenesis have not been fully delineated. To…
Abstract Number: 2022 • 2019 ACR/ARP Annual Meeting
Analysis of Gene Expression from Systemic Lupus Erythematosus Synovium Reveals Unique Pathogenic Mechanisms
Erika Hubbard¹, Michelle Catalina ², Sarah Heuer ¹, Prathyusha Bachali ², Nicholas Geraci ³, Peter Lipsky ³ and Amrie Grammer ¹, ¹AMPEL BioSolutions and RILITE Research Institute, Charlottesville, VA, ²AMPEL BioSolutions and the RILITE Research Institute, Charlottesville, VA, ³AMPEL BioSolutions, LLC, Charlottesville, VA
Background/Purpose: Arthritis is a common manifestation of SLE and the ability of a new lupus therapy often depends on its ability to suppress joint inflammation.…
Abstract Number: 2074 • 2019 ACR/ARP Annual Meeting
Automated Diagnosis Extraction from Electronic Medical Records with Machine Learning Classifiers
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: The use of Electronic Medical Records (EMR) for research purposes has led to an increasing interest in Natural Language Processing (NLP) for text classification.…
Abstract Number: 2804 • 2018 ACR/ARHP Annual Meeting
Identifying Lupus Patients in Electronic Health Records: Development and Validation of Machine Learning Algorithms and Application of Rule-Based Algorithms
April Jorge¹, Victor M. Castro², April Barnado³, Vivian Gainer², Chuan Hong⁴, Tianxi Cai², Robert Carroll⁵, Leslie Crofford³, Karen Costenbader⁶, Katherine P. Liao⁷, Elizabeth Karlson⁶ and Candace H. Feldman⁶, ¹Rheumatology, Allergy, and Immunology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, ²Research Information Systems and Computing, Partners Healthcare, Boston, MA, ³Division of Rheumatology and Immunology, Vanderbilt University Medical Center, Nashville, TN, ⁴Harvard T.H. Chan School of Public Health, Boston, MA, ⁵Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, ⁶Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, MA, ⁷Brigham and Women's Hospital, Boston, MA
Background/Purpose: To utilize electronic health records (EHR) to study SLE, phenotypic algorithms are needed to accurately identify these patients. We aimed to generate an EHR…
Abstract Number: 2903 • 2018 ACR/ARHP Annual Meeting
Single Cell Association Testing Identifies an Expanded Th1-Skewed Cytotoxic Effector CD4+ T Cell Subset in Rheumatoid Arthritis
Chamith Fonseka¹, Deepak Rao², Nikola Teslovich³, Ilya Korsunsky⁴, Susan Hannes⁵, Kamil Slowikowski¹, Michael Gurish⁶, Laura T. Donlin⁷, James A. Lederer⁸, Michael Weinblatt⁹, Elena Massarotti⁹, Jonathan Coblyn⁹, Simon Helfgott¹⁰, Derrick J. Todd¹¹, Vivian P. Bykerk¹², Elizabeth Karlson¹³, Joerg Ermann¹⁴, Yvonne C. Lee¹⁵, Michael Brenner¹⁶ and Soumya Raychaudhuri^1,17, ¹Divisions of Genetics and Rheumatology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ²Human Immunology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ³Division of Genetics and Rheumatology, Department of Medicine, Harvard Medical School, Boston, MA, ⁴Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁵Division of Genetics, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, ⁶Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁷Arthritis and Tissue Degeneration Program and the David Z. Rosensweig Genomics Research Center, Hospital for Special Surgery, New York, NY, ⁸Department of Surgery, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁹Brigham and Women's Hospital, Boston, MA, ¹⁰Division of Rheumatology, Brigham and Women’s Hospital, Boston, MA, ¹¹Rheumatology, Immunology and Allergy, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ¹²Deptartment of Rheumatology, Hospital for Special Surgery, New York, NY, ¹³Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ¹⁴Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, MA, ¹⁵Northwestern University Feinberg School of Medicine, Chicago, IL, ¹⁶Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ¹⁷Program in Medical and Population Genetics, Broad Institute, Boston, MA
Background/Purpose: Defining the precise CD4+ T cell subsets that are dysregulated in RA patients is critical to deciphering pathogenesis. Here we present Mixed effects modeling…
Abstract Number: 583 • 2018 ACR/ARHP Annual Meeting
Identification of a Protein Profile Useful to Predict Response to Methotrexate in Early Rheumatoid Arthritis Patients
Cristina Ruiz-Romero¹, Florencia Picchi², Lucia González², Rebecca Hands³, Valentina Calamia², Patricia Fernández⁴, Maria Camacho², Rocío Paz², Conrad Bessant⁵, Costantino Pitzalis³ and Francisco J Blanco⁶, ¹Rheumatology Division, ProteoRed, PRB2-ISCIII. INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, ²Rheumatology Research Group, Proteomics Unit-ProteoRed/ISCIII, INIBIC-CHUAC, A Coruña, Spain, ³Centre for Experimental Medicine and Rheumatology, William Harvey Research Institute, Barts and The London, School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom, ⁴Proteomics group, Rheumatology Division, ProteoRed, PRB2-ISCIII. INIBIC-Hospital Universitario A Coruña, La Coruña, Spain, ⁵School of Biological and Chemical Sciences, Queen Mary University of London, London, United Kingdom, ⁶Rheumatology Divison, INIBIC-Hospital Universitario A Coruña, A Coruña, Spain
Background/Purpose: Among the best known disease-modifying antirheumatic drugs, Methotrexate (MTX) is one of the most effective and widely used medications. It is used as a…
Abstract Number: 836 • 2018 ACR/ARHP Annual Meeting
Genetic Risk Score Prediction in Ankylosing Spondylitis
Zhixiu Li¹, Erika De Guzman¹, Jessica Harris¹, Nurullah Akkoc², Mahdi Mahmoudi³, Maxime Breban⁴, Chung-Tei Chou⁵, Michael Weisman⁶, Lianne S. Gensler⁷, Michael Ward⁸, Mohammad H. Rahbar⁹, Laura A. Diekman¹⁰, Tae-Hwan Kim¹¹, Paul Leo¹, John D. Reveille¹⁰, Paul Wordsworth¹², Matthew Brown¹ and Huji Xu¹³, ¹Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Brisbane, Australia, Brisbane, Australia, ²Rheumatology, İzmir, Turkey, İzmir, Turkey, ³Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran, Tehran, Iran (Islamic Republic of), ⁴Hôpital Ambroise Paré, Assistance Publique-Hôpitaux de Paris, Boulogne, France, Boulogne, France, ⁵Division of Allergy-Immunology-Rheumatology, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan, Taipei, Taiwan, ⁶Cedars-Sinai Medical Center, Los Angeles, CA, USA, Los Angeles, CA, ⁷University of California San Francisco, San Francisco, CA, ⁸National Institutes of Health, Bethesda, MD, USA, Bethesda, MD, ⁹Biostatistics/Epidemiology/Research Design (BERD) Core | Center for Clinical and Translational Sciences, McGovern Medical School at the University of Texas Health Science Center at Houston, USA, Houston, TX, ¹⁰Rheumatology, McGovern Medical School at the University of Texas Health Science Center at Houston, USA, Houston, TX, ¹¹Rheumatology, The Hospital for Rheumatic Diseases, Hanyang University, Seoul, Korea, Seoul, Korea, Republic of (South), ¹²Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK, Oxford, United Kingdom, ¹³School of Clinical Medicine, Tsinghua University, Beijing, China, Beijing, China
Background/Purpose: The diagnosis of ankylosing spondylitis (AS) is delayed by on average 8–11 years after the onset of symptoms, and there is increasing evidence that…
Abstract Number: 920 • 2018 ACR/ARHP Annual Meeting
Rheumatoid Arthritis Patient-Specific Therapeutic Target Identification Using Integrative Epigenetic Profiling
Richard Ainsworth¹, Kai Zhang², Lina Zheng³, Gary S. Firestein⁴ and Wei Wang⁵, ¹UC San Diego, La Jolla, CA, ²UCSD School of Engineering, San Diego, CA, ³Chemistry and Biochemistry, UC San Diego, La Jolla, CA, ⁴Medicine, UC San Diego, La Jolla, CA, ⁵Chemistry and Biochemistry, University of California San Diego, La Jolla, CA
Background/Purpose: To explain the complex regulatory changes associated with RA synovitis and the diversity of responses to targeted therapies, we developed and applied a novel…
Abstract Number: 924 • 2018 ACR/ARHP Annual Meeting
10X Genomics-Based Single-Cell RNA-Seq and Low Input RNA-Seq Identify a Transcriptional Landscape Supporting Interferon in the Pathogenesis of Autoimmune-Associated Congenital Heart Block
Hemant Suryawanshi¹, Jill P. Buyon², Miao Chang², Thomas Tuschl¹ and Robert M. Clancy², ¹Howard Hughes Medical Institute and The Rockefeller University, New York, NY, ²NYU School of Medicine, New York, NY
Background/Purpose: Towards understanding the molecular mechanisms that link maternal anti-Ro antibodies to the development of conduction system disease in a second trimester fetus, single cell…
Abstract Number: 1118 • 2018 ACR/ARHP Annual Meeting
Identification of Transcriptional Regulatory Networks in Systemic Sclerosis
Yue Wang¹, Jennifer Franks² and Michael L. Whitfield³, ¹Molecular and Systems Biology, Geisel School of Medicine at Dartmouth, Hanover, NH, ²Geisel School of Medicine at Dartmouth, Hanover, NH, ³Biomedical Data Science, Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Systemic sclerosis (SSc) is a heterogeneous autoimmune disorder with poor outcomes and no FDA-approved therapies. Prior work has shown gene expression patterns associated with…
Abstract Number: 1963 • 2018 ACR/ARHP Annual Meeting
Phenome Wide Association Study of IL6R Variant Identifies Drug Target for Cardiovascular Disease and Inflammation
Tianxi Cai^1,2,3, Yichi Zhang^1,3, Yuk-Lam Ho¹, Nicholas Link¹, Jiehuan Sun^1,3, Jie Huang^1,4, Tianrun Cai^1,2,4, Scott Damrauer⁵, Yuri Ahuja², Jacqueline Honerlaw¹, Jie Huang¹, Lauren Costa¹, Petra Schubert¹, Chuan Hong³, David Gagnon^1,6, Yan Sun⁷, Michael Gaziano^1,2,4, Peter Wilson^7,8, Kelly Cho^1,2,4, Philip Tsao⁹, Christopher J. O'Donnell^1,2 and Katherine P. Liao^1,2,4, ¹VA Boston Healthcare System, Boston, MA, ²Harvard Medical School, Boston, MA, ³Harvard T.H. Chan School of Public Health, Boston, MA, ⁴Brigham and Women's Hospital, Boston, MA, ⁵Corporal Michael Crescenz VA Medical Center, Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, ⁶Boston University School of Public Health, Boston, MA, ⁷Emory University Schools of Medicine and Public Health, Atlanta, GA, ⁸Atlanta VA Medical Center, Atlanta, GA, ⁹VA Palo Alto Health Care System, Department of Medicine, Stanford University School of Medicine, Stanford, CA
Background/Purpose: Individuals with an interleukin 6 receptor (IL6R) genetic variant not on IL6R blocking therapy have biomarker profiles similar to those treated with IL6R blockers. …

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