Abstracts tagged "genomics"

Abstract Number: 0904 • ACR Convergence 2024
Defining the Function of Disease Variants with CRISPR Editing and Multimodal Single Cell Sequencing
Yuriy Baglaenko¹, MIchelle Curtis², Majd Al Suqri³, Ryan Agnew³, Aparna Nathan⁴, Hafsa Mire⁴, Annelise Yoo Mah-Som³, David Liu⁵, Gregory Newby⁶ and Soumya Raychaudhuri³, ¹Cincinnati Children's Hospital, Cincinnati, OH, ²Broad Institute, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Harvard Medical School, Boston, MA, ⁵Broad Institute, Cambridge, MA, ⁶Johns Hopkins, Baltimore, MD
Background/Purpose: Genetic studies have identified thousands of individual disease-associated non-coding alleles, but identification of the causal alleles and their functions remain critical bottlenecks. Even though…
Abstract Number: 1810 • ACR Convergence 2024
Modulation of Type I Interferon Signaling by Anifrolumab Alters the Spatial Immune Landscape in Cutaneous Lupus Erythematosus
Ksenia Anufrieva¹, Rochelle Castillo², Ce Gao², Jessica Liu², Neda Shahriari², Kimberly Hashemi², Dustin Taylor³, Rachael Rowley², Elizabeth Rainone², Avery LaChance², Rachel Gate⁴, ilya Korsunsky², Ruth Ann Vleugels⁵ and Kevin Wei⁶, ¹BWH, Cambridge, MA, ²Brigham and Women's Hospital, Boston, MA, ³Vanderbilt University Medical Center, Nashville, TN, ⁴10x Genomics, Pleasanton, CA, ⁵Brigham and Women's Hospital, Brookline, MA, ⁶Brigham and Women's Hospital at Harvard Medical School, Boston, MA
Background/Purpose: Reliable and effective treatments for refractory cutaneous lupus erythematosus (CLE) remained elusive until the arrival of anifrolumab, a monoclonal antibody targeting the type I…
Abstract Number: 0022 • ACR Convergence 2024
Transcriptomic Characterization of Knee Capsule Fibroblasts and Mesenchymal Stromal Cells Reveals an Association Between Flexion Contracture and Alterations in Immune Pathways in People with End-stage OA
Odette Laneuville¹, Daniel Stratis¹, Robert Feibel², Guy Trudel³ and T Mark Campbell⁴, ¹University of Ottawa, Ottawa, ON, Canada, ²The Ottawa Hospital, Ottawa, ON, Canada, ³Ottawa Hospital Research Institute, Ottawa, ON, Canada, ⁴Bruyère Research Institute, Ottawa, ON, Canada
Background/Purpose: Over 10% of adults have symptomatic knee OA but no disease-modifying interventions exist. A flexion contracture (loss of extension; FC) presents in 1/3 of…
Abstract Number: 0907 • ACR Convergence 2024
Association of Rare and Common Genetic Variants in MOCOS with Inadequate Response to Allopurinol
Niamh Fanning¹, Murray Cadzow², Ruth Topless³, Chris Frampton⁴, Nicola Dalbeth⁵, Tony Merriman⁶ and Lisa Stamp⁴, ¹University of Otago, Christchurch, New Zealand, ²University of Otago, Dunedin 9054, New Zealand, ³University of Otago, Dunedin, New Zealand, ⁴University of Otago, Christchurch, Christchurch, New Zealand, ⁵University of Auckland, Auckland, New Zealand, ⁶University of Alabama at Birmingham, Homewood, AL
Background/Purpose: The minor allele of the common rs2231142 (Q141K) ABCG2 variant predicts inadequate response to allopurinol urate lowering therapy (ULT). We hypothesize that additional variants in genes…
Abstract Number: 1819 • ACR Convergence 2024
Insulin-like Growth Factor Binding Protein-7 (IGFBP7) Plays a Pathogenic Role in Dermal Fibrosis and Is Increased in Systemic Sclerosis
Ye Jin Jeong¹, Gayathri Guru Murthy¹, Gaochan Wang¹, Tahia Rahman¹ and Benjamin Korman², ¹University of Rochester School of Medicine and Dentistry, Rochester, NY, ²University of Rochester, Rochester, NY
Background/Purpose: Systemic sclerosis (SSc, scleroderma) is an autoimmune connective tissue disease that causes autoimmunity, vascular dysfunction, and fibrosis of the skin, lungs, and other organs.…
Abstract Number: 0028 • ACR Convergence 2024
Human Meniscus Histopathological and Transcriptomic Changes at Early and Advanced Stages of Knee Osteoarthritis
Takuya Sakamoto¹, Hannah Swahn¹, Merissa Olmer¹, Rachel Miller², Anne-Marie Malfait³ and Martin Lotz¹, ¹Scripps Research Institute, La Jolla, CA, ²Rush University Medical Center, Chicago, IL, ³Rush University Medical Center, Division of Rheumatology, Chicago, IL
Background/Purpose: The knee menisci are essential elements in joint biomechanics and meniscus damage is a driver of cartilage destruction and knee osteoarthritis. Meniscus damage and…
Abstract Number: 0909 • ACR Convergence 2024
Identifying Predictive Serum Soluble Mediators Signatures Specific to ANA+ at Risk of SLE Individuals with Next Generation Proteomics
Aleksandra Bylinska¹, Miles Smith¹, Rufei Lu¹, Benjamin Jones², Carla Guthridge¹, Matthew Caleb Marlin¹, Christian Wright³, Susan Macwana³, Wade DeJager³, Marci Beel³, Christopher Lessard¹, Cristina Arriens¹, Joan Merrill⁴, Judith James¹ and Joel Guthridge¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oklahoma State University, Oklahoma City, OK, ³Oklahoma Medical Research Foundation, Oklahoma City, ⁴Oklahoma Medical Research Foundation, Oklahoma City 73104, OK
Background/Purpose: Multiple factors can predispose individuals to development of SLE, including the presence of African American ancestry, lupus-associated autoantibodies (ANAs), or some clinical manifestations of…
Abstract Number: 1822 • ACR Convergence 2024
Analysis of Differential Activation of Lysophosphatidic Acid Regulated Genes in Diffuse and Limited Cutaneous Systemic Sclerosis
Medha Kanitkar¹, Philip Yee², Stefano Rodolfi¹, Kristina Clark³, Voon Ong⁴ and Christopher Denton⁵, ¹University College London, London, United Kingdom, ²UCL, London, United Kingdom, ³University of Oxford, Oxford, United Kingdom, ⁴University College London, London, England, United Kingdom, ⁵University College London, Northwood, United Kingdom
Background/Purpose: Lysophosphatidic Acid (LPA) is a lipid mediator implicated in the pathogenesis of SSc and idiopathic pulmonary fibrosis. Phase 2 clinical trials targeting this biological…
Abstract Number: 0063 • ACR Convergence 2024
Splicing into Action:Investigating the Role of Alternative Splicing in Rheumatoid Arthritis Neutrophils
Rayan Najjar¹, Noga Rogel² and Tomas Mustelin³, ¹University of Washington, Seattle, ²University of Washinton, Seattle, ³University of Washington, Seattle, WA
Background/Purpose: Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by a variable response to therapies, reflecting its complex and incompletely understood pathogenesis. Emerging research suggests…
Abstract Number: 0911 • ACR Convergence 2024
Activating B Cells Facilitates the Discovery of Latent Disease-associated Variants
David Murphy, Yao Fu, Jennifer Kelly, Richard Pelikan, Graham Wiley and Patrick Gaffney, Oklahoma Medical Research Foundation, Oklahoma City, OK
Background/Purpose: Although millions of disease-associated variants have been discovered using GWAS, most of these occur in non-coding regions and their mechanistic link to disease is…
Abstract Number: 1823 • ACR Convergence 2024
Identification and Prediction of Systemic Sclerosis Intrinsic Subtypes Using Semi-Supervised and Supervised Learning on Gene Expression Data of Multiple Cohorts
Zhiyun Gong¹, Rezvan Parvizi², Helen Jarnagin¹, Haobin Chen³, Madeline Morrisson⁴, Tammara Wood⁵, Monique Hinchcliff⁶ and Michael Whitfield², ¹Dartmouth College, Lebanon, NH, ²Geisel School of Medicine at Dartmouth, Hanover, NH, ³Dartmouth, Lebanon, NH, ⁴Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁵Dartmouth, Hanover, NH, ⁶Yale School of Medicine, Westport, CT
Background/Purpose: Systemic Sclerosis (SSc) is a molecularly heterogeneous disease. Distinct subtypes of patients have been identified based on gene expression in skin. In this study,…
Abstract Number: 0479 • ACR Convergence 2024
Constructing and Using a Novel Nucleotide Transformer for Patients with Rheumatoid Arthritis
Shant Ayanian, Collin Osborne, Marc Blasi, Daniel Darveaux, Eric Klee and Elena Myasoedova, Mayo Clinic, Rochester, MN
Background/Purpose: Applying the methods of artificial intelligence (AI) to genomic data for clinical outcome prediction in rheumatoid arthritis (RA) is an area of growing research.…
Abstract Number: 0913 • ACR Convergence 2024
The Association Between PTPN2 and Leukopenia in New Users of Azathioprine
Puran Nepal¹, Laura L. Daniel², Jacy Zanussi², Alyson L. Dickson³, Wei-Qi Wei³, Adriana M. Hung⁴, Nancy J. Cox³, Vivian K. Kawai³, Jonathan D. Mosley³, C. Michael Stein³, QiPing Feng³, Ge Liu³, Ran Tao³ and Cecilia P. Chung², ¹Vanderbilt University Medical Center, Vanderbilt, TN, ²University of Miami, Miami, FL, ³Vanderbilt University Medical Center, Nashville, TN, ⁴Veterans Administration Tennessee Valley Healthcare System, Nashville, TN
Background/Purpose: Leukopenia is a common dose-dependent side effect of azathioprine and often results in discontinuation of the drug. Variants in TPMT and NUDT15 have been…
Abstract Number: 1829 • ACR Convergence 2024
Genomic Analysis of Skin Biopsies Differentiates Major Anti-Nuclear Autoantibody Subsets in Limited Cutaneous Systemic Sclerosis
Philip Yee¹, Medha Kanitkar², Kristina Clark³, Voon Ong¹ and Christopher Denton⁴, ¹University College London, London, England, United Kingdom, ²University College London, London, United Kingdom, ³University of Oxford, Oxford, United Kingdom, ⁴University College London, Northwood, United Kingdom
Background/Purpose: Systemic sclerosis (SSc) displays significant heterogeneity. Those with limited cutaneous systemic sclerosis (lcSSc) experience significant systemic organ involvement similar to those with diffuse cutaneous…
Abstract Number: 0521 • ACR Convergence 2024
Transcriptome Analysis of Drug Response in a Large Cohort of Immune-Mediated Inflammatory Disease Patients Supports Advanced Combination Therapy in Rheumatoid Arthritis
Ernest Choy¹, Maria López Lasanta², Paloma Vela-Casasempere³, Antonio Fernandez Nebro⁴, Santos Castañeda⁵, Carlos Marras⁶, Jaime Calvo-Alén⁷, Jesus Tornero⁸, Juan Cañete⁹, Eugeni Domènech¹⁰, Javier Gisbert¹¹, José Manuel Carrascosa¹², Eduardo Fonseca¹³, Luis Bujanda¹⁴, Valle García¹⁵, Britta Siegmund¹⁶, Giampiero Girolomoni¹⁷, Holger Heyn¹⁸, Pere Santamaria¹⁹, Richard M Myers²⁰, yolanda Guillen²¹, Sergio H Martínez-Mateu²², Sara Marsal²³ and Antonio Julia²⁴, and IMID Consortium, ¹Cardiff University School of Medicine, Cardiff, United Kingdom, ²Hospital Universitari Vall d´Hebron, Rheumatology, Barcelona, Spain, ³Hospital General Universitario Alicante, Alicante, Spain, ⁴Hospital Regional Universitario Carlos Haya , Rheumatology, Málaga, Spain, ⁵Hospital Universitario de la Princesa, Madrid, Spain, ⁶Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Murcia, Spain, ⁷Department of Rheumatology, Hospital Araba, Vitoria, Pais Vasco, Spain, ⁸Hospital Universitario de Guadalajara, Guadalajara, Spain, ⁹Hospital Clinic an IDIBAPS, Barcelona, Spain, ¹⁰Hospital Universitari Germans Trias i Pujol, Barcelona, Spain, ¹¹Hospital Universitario de la Princesa and IIS-IP, Madrid, Spain, ¹²Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹³Complejo Hospitalario Universitario de A Coruña, A Coruña, Spain, ¹⁴Hospital Universitario de Donostia, San Sebastián, Spain, ¹⁵Hospital Universitario Reina Sofía, Córdoba, Spain, ¹⁶Charité – Universitätsmedizin Berlin, Berlin, Germany, ¹⁷University of Verona, Verona, Italy, ¹⁸Centre for Genomic Regulation (CNAG-CRG), National Centre for Genomic Analysis, Barcelona, Spain, ¹⁹Institut D'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain, ²⁰HudsonAlpha Institute for Biotechnology, Huntsville, AL, ²¹Imidomics, Inc, Barcelona, Spain, ²²IMIDOMICs, Barcelona, Spain, ²³Vall Hebron Hospital Research Institute, Barcelona, Spain, ²⁴Vall d'Hebron Hospital Research Institute, Barcelona, Spain
Background/Purpose: Targeted therapies have failed to provide sustained disease remission in most patients suffering from immune-mediated inflammatory diseases (IMIDs). Combining existing drugs could overcome this…

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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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