ACR Meeting Abstracts

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Abstracts tagged "genomics"

  • Abstract Number: 2221 • ACR Convergence 2022

    The Molecular Endotypes of Type 1 and Type 2 SLE

    Robert Robl1, Amanda Eudy2, Prathyusha Bachali3, Jennifer L Rogers4, Megan Clowse5, David Pisetsky6 and Peter lipsky1, 1AMPEL BioSolutions, Charlottesville, VA, 2Duke University, Raleigh, NC, 3AMPEL BioSolutions, Redmond, WA, 4Duke University School of Medicine, Division of Rheumatology & Immunology, Durham, NC, 5Duke University, Durham, NC, 6Duke University Medical Center, Durham, NC

    Background/Purpose: To characterize the molecular landscape of patients with Type 1 and Type 2 systemic SLE erythematosus (SLE) by analyzing gene expression profiles from peripheral…
  • Abstract Number: 0017 • ACR Convergence 2022

    Intra-articular Injection of Bacterial DNA Amplified from Human OA Patient Cartilage Worsens OA Outcomes in Mice

    Leoni Schlupp1, Emmaline Prinz1, Vladislav Izda2, Emily Nguyen1, Christopher Dunn3 and Matlock Jeffries1, 1Oklahoma Medical Research Foundation, Oklahoma City, OK, 2Oklahoma Medical Research Foundation, New York, NY, 3University of Oklahoma Health Sciences Center, Edmond, OK

    Background/Purpose: We have previous demonstrated a bacterial DNA signature within cartilage of humans and mice and shown shifts in this signature with OA development. However,…
  • Abstract Number: 1131 • ACR Convergence 2022

    Integrating Genome and Transcriptome-Wide Associations with Real-World Data to Assess Risk for Leukopenia in Patients Taking Azathioprine

    Puran Nepal, Jacy Zanussi, Alyson Dickson, Laura Daniel, Tyne Miller-Fleming, Peter Straub, Adriana Hung, Wei-Qi Wei, Nancy Cox, Michael Stein, QiPing Feng and Cecilia Chung, Vanderbilt University Medical Center, Nashville, TN

    Background/Purpose: Azathioprine is used to treat several autoimmune conditions, but its use is limited by side effects. Leukopenia, a severe, potentially life-threatening side effect is…
  • Abstract Number: 2224 • ACR Convergence 2022

    Genes Causative of Primary Immunodeficiency Are Risk Factors for and Over-expressed in Systemic Lupus Erythematosus

    Haley Davis1, Adam Labonte1, Katherine Owen2, Erika Hubbard1, Jessica Kain1, Brian Kegerreis1, Prathyusha Bachali3, Amrie Grammer4 and Peter Lipsky1, 1AMPEL BioSolutions, Charlottesville, VA, 2RILITE, Crozet, VA, 3AMPEL BioSolutions, Redmond, WA, 4AMPEL LLC, Charlottesville, VA

    Background/Purpose: Systemic lupus erythematosus (SLE) is a polygenic autoimmune disease whose specific causes are incompletely understood and for which there exists no single comprehensive diagnostic…
  • Abstract Number: 0050 • ACR Convergence 2022

    Effect of Disease-modifying Anti-rheumatic Drugs on Lung Microenvironment of SKG Mice

    Sung Hae Chang1, Jeongjun Choe2, Seon Uk Kim3, Jeong Yeon Kim4, Sung Won Lee5, Jeong Seok Lee6 and Eun Young Lee4, 1Soonchunhyang University College of Medicine, Bongmyeong-dong, Dongnam-gu, Cheonan-si, Republic of Korea, 2Sungkyunkwan University, Seoul, Republic of Korea, 3Seoul National University College of Medicine, Jongno-gu, Seoul, Republic of Korea, 4Seoul National University College of Medicine, Seoul, Republic of Korea, 5Sooncheonhyang University College of Medicine, Seoul, Republic of Korea, 6Korea Advanced Institute of Science and Technology, KAIST, Graduate school of Medical Science and Engineering, Daejeon, Republic of Korea

    Background/Purpose: Rheumatoid arthritis-associated interstitial lung disease (RA-ILD) is one of the pivotal extrapulmonary conditions. However, the pathophysiology of RA-ILD, including the effect of disease-modifying anti-rheumatoid…
  • Abstract Number: 1141 • ACR Convergence 2022

    Consequences of SLE Heterogeneity on the Epigenome and the Drivers Behind

    Olivia Castellini-Pérez1, Athina Spiliopoulou2, Guillermo Barturen1, Andrii Iakovliev2, Manuel Martinez-Bueno1, Elena Carnero-Montoro1 and Marta Alarcon-Riquelme1, 1Center for Genomics and Oncological Research (GENYO), Granada, Spain, 2University of Edinburgh, Edinburgh, Scotland, United Kingdom

    Background/Purpose: Systemic Lupus Erythematosus (SLE) is a prototypic systemic autoimmune disease characterized by a complex aetiology and heterogenous symptomatology which has been recently dissected using…
  • Abstract Number: 2230 • ACR Convergence 2022

    Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study

    Yiming Luo1, Marcela Ferrada1, Keith Sikora2, Daniel Kastner3, Zuoming Deng4, Mengqi Zhang5, Hugh Alessi1, Virginia Kraus6, Andrew Allen6 and Peter Grayson7, 1National Institutes of Health, Bethesda, MD, 2National Institutes of Health Clinical Center, Bethesda, MD, 3National Human Genome Research Institute, Bethesda, MD, 4National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 5University of Pennsylvania, Philadelphia, PA, 6Duke University, Durham, NC, 7National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD

    Background/Purpose: Relapsing polychondritis (RP) is a rare rheumatic disease of unknown etiology characterized by inflammations of cartilaginous structures and other tissues, particularly the ears, nose,…
  • Abstract Number: 0501 • ACR Convergence 2022

    Single-molecule Spatial Transcriptomic Analysis Reveals Distinct Cellular Networks in Rheumatoid Arthritis Synovia

    Roopa Madhu1, Kartik Bhamidipati1, Nghia Millard2, Michelle Curtis2, Ye Cui3, Youngmi Kim3, Ellen Gravallese4, Soumya Raychaudhuri1, Michael Brenner4, ilya Korsunsky1 and Kevin Wei5, 1Brigham and Women's Hospital, Boston, MA, 2Broad Institute, Boston, MA, 3Nanostring Technologies Inc., Seattle, WA, 4Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 5Brigham and Women's Hospital and Harvard Medical School, Boston, MA

    Background/Purpose: Chronic joint inflammation in rheumatoid arthritis (RA) arises from the interactions of many cell types. Single-cell transcriptomic profiling of RA joints has identified novel…
  • Abstract Number: 1149 • ACR Convergence 2022

    A Novel Mitochondrial Variant as a Predictor for the Rapid Progressive Knee Osteoarthritis Phenotype: Development of a Predictive Model and Functional Studies

    Alejandro Durán-Sotuela1, Mercedes Fernández-Moreno1, Tamara Hermida-Gómez1, Sara Relaño1, Victoria Suárez-Ulloa2, vanesa Balboa-Barreiro3, Natividad Oreiro1, Jorge Vázquez-García1, FJ Blanco1 and Ignacio Rego-Pérez1, 1Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, 2Plataforma de Bioinformática. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, 3Unidad de apoyo a la Investigación. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain

    Background/Purpose: Knee osteoarthritis progression is heterogeneous in the population, being the most aggresive form the rapid progressive knee osteoarthritis (RPKOA). These patients suffer a worsening…
  • Abstract Number: 2233 • ACR Convergence 2022

    Machine Learning Uncovers Novel mRNAs Expressed in Fibromyalgia

    Lena Kolb1, Mark Rudolph1, Alan Kivitz2, Scott Rey1, Roberta Alexander1, Anja Kammesheidt3 and Geoffrey Stephens1, 1Exagen, Inc., Vista, CA, 2Department of Rheumatology, Altoona Center for Clinical Research, Duncansville, PA, 3self, Laguna Beach, CA

    Background/Purpose: Fibromyalgia is a debilitating pain condition that affects roughly 12 million people in the United States. Although preliminary diagnostic criteria have been established by…
  • Abstract Number: 0518 • ACR Convergence 2022

    Changes in Skin Fibroblast Polarization Gene Expression Herald Clinical Improvement in Early, Diffuse Cutaneous Systemic Sclerosis

    Kimberly Showalter Lakin1, Deanna Jannat-Khah, DrPH, MSPH1, Yajas Shah2, Olivier Elemento2, Aliza Bloostein1, Jessica Gordon1, Michael Whitfield3, Barbara White4, Dana Orange5 and Robert Spiera1, 1Hospital for Special Surgery, New York, NY, 2Weill Cornell Medicine, New York, NY, 3Dartmouth Geisel School of Medicine, Department of Biomedical Data Science, Lebanon, NH, 4Corbus Pharmaceuticals, Pleasanton, CA, 5The Rockefeller University, New York, NY

    Background/Purpose: We previously identified a group of genes associated with high alpha-smooth muscle actin (aSMA) and low CD34 fibroblast staining in lesional systemic sclerosis (SSc)…
  • Abstract Number: 1539 • ACR Convergence 2022

    Gene Expression Meta-Analysis Reveals Aging and Cellular Senescence Signatures in Scleroderma-associated Interstitial Lung Disease

    Monica Yang1, Seoyeon Lee2, Jessica Neely3, Marina Sirota2 and Paul Wolters2, 1UCSF, SF, CA, 2UCSF, SF, 3UCSF Benioff Children's Hospital, San Francisco, CA

    Background/Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by diffuse fibrosis and vasculopathy that has potential to affect nearly every organ system. Interstitial lung…
  • Abstract Number: 0562 • ACR Convergence 2022

    Large-Scale Targeted Sequencing Study Links Systemic Juvenile Idiopathic Arthritis with Rare Variants of MEFV, LYST, STXBP2, UNC13D

    Mariana Correia Marques1, Danielle Rubin2, Emily Shuldiner2, Elizabeth Schmitz2, Elizabeth Baskin2, Andrew Patt3, Alexei Grom4, Dirk Foell5, Marco Gattorno6, John Bohnsack7, Rae Yeung8, Sampath Prahalad9, Elizabeth Mellins10, Jordi Antón11, Claudio Len12, Sheila Oliveira13, Patricia Woo14, Seza Ozen15, INCHARGE Consortium16 and Michael Ombrello17, 1National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, 2National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, 3National Center for Advancing Translational Sciences, Bethesda, MD, 4Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 5University Hospital Münster, Münster, Germany, 6Pediatric Clinic and Rheumatology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, 7University of Utah, Salt Lake City, UT, 8The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, 9Emory + Children's Pediatric Institute, Atlanta, GA, 10Stanford University, Stanford, CA, 11Pediatric Rheumatology Department. Hospital Sant Joan de Déu. Universitat de Barcelona, Esplugues de Llobregat, Spain, 12Universidade Federal de São Paulo, São Paulo, Brazil, 13Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, 14University College London, London, United Kingdom, 15Hacettepe University Faculty of Medicine, Ankara, Turkey, 16International Childhood Arthritis Genetics Consortium, Bethesda, MD, 17National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD

    Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a genetically complex inflammatory condition. It can be marked by severe systemic inflammation that resembles the hereditary periodic…
  • Abstract Number: 1552 • ACR Convergence 2022

    Rare Variant Analysis of Aortopathy Genes in Takayasu’s Arteritis

    Hugh Alessi1, Yiming Luo1, Kaitlin Quinn2 and Peter Grayson3, 1NIH, Bethesda, MD, 2National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, 3National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD

    Background/Purpose: A set of genes has been associated with aortopathies, which are defined as non-inflammatory diseases where the integrity of large arteries is compromised leading…
  • Abstract Number: 0564 • ACR Convergence 2022

    Identifying Shared Genetic Architecture Between RA and Other Conditions: A Phenome-Wide Association Study

    Harrison Zhang1, Gregory McDermott2, Thany Seyok2, Sicong Huang2, Kumar Dahal2, Sehi L'Yi1, Clara Lea-Bonzel1, Jacklyn Stratton2, Dana Weisenfeld2, Tianrun Cai2, Paul Monach3, Jing Cui2, Chuan Hong4, Tianxi Cai5 and Katherine Liao2, 1Harvard Medical School, Boston, MA, 2Brigham and Women's Hospital, Boston, MA, 3VA Boston Healthcare System, Boston, MA, 4Duke University, Durham, NC, 5Harvard TH Chan School of Public Health, Boston, MA

    Background/Purpose: RA shares individual risk alleles with other autoimmune conditions such as type 1 diabetes and celiac disease. However, there are limited studies examining the…
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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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