Abstracts tagged "Bioinformatics"

Abstract Number: 1625 • ACR Convergence 2022
Single Cell and Spatial Transcriptomics Identifies Pathogenic Drivers of Sjogren’s Disease in Humans
Blake Warner¹, Thomas Pranzatelli², Paola Perez², Daniel Martin², Shyh-Ing Jang², Kalie Dominick², Eiko Yamada², Kevin Byrd³, Quinn Easter⁴, A. Darise Farris⁵, Christopher Lessard⁵, Amanda Oliver⁶, Raquel Bartolome-Casado⁶, Zohreh Khavandgar¹, Sarthak Gupta⁷, Sarah Teichmann⁶, Alan Baer⁸ and John Chiorini², ¹National Institutes of Health, Bethesda, MD, ²NIDCR, Bethesda, MD, ³American Dental Association, Scientific Research Institute, Gaithersburg, MD, ⁴American Dental Association, Gaithersburg, MD, ⁵Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁶Wellcome Sanger Institute, Cambridgeshire, United Kingdom, ⁷National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁸Johns Hopkins University School of Medicine, Baltimore, MD
Background/Purpose: Sjogren's Disease(SjD) is a systemic autoimmune disease characterized by exocrine dysfunction. The pathogenesis is incompletely understood, but involves gene-environment interactions leading to infiltration of…
Abstract Number: 0973 • ACR Convergence 2021
Modeling of Clinical Phenotypes in SLE Based on Platelet Transcriptomic Analysis and FCGR2a Biallelic Variants
MacIntosh Cornwell¹, Hanane EL Bannoudi², Elliot Luttrell-Williams¹, Khrystyna Myndzar¹, Alexis Engel³, Peter Izmirly⁴, H. Michael Belmont⁵, Robert Clancy⁶, Jeffrey Berger¹, Kelly Ruggles¹ and Jill Buyon⁶, ¹New York University, New York, NY, ²NYU Langone Health, New York, NY, ³NYU Langone Health, New Yok, NY, ⁴New York University School of Medicine, New York, NY, ⁵NYU School of Medicine, New York, NY, ⁶NYU Grossman School of Medicine, New York, NY
Background/Purpose: The clinical heterogeneity of SLE with its complex pathogenesis remains challenging as we strive to provide optimal management. The contribution of platelets to endovascular…
Abstract Number: 1011 • ACR Convergence 2021
Validation of Bioinformatics Pipeline to Detect NEMO-Deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) and Preliminary Clinical and Immunologic Characterization
Adriana Almeida de Jesus¹, Bin Lin², Eric Karlins³, Dana Kahle⁴, Andre Rastegar², Jacob Mitchell², Sofia Torreggiani², Farzana Bhuyan², Sara Alehashemi⁵, Kader Cetin Gedik⁶, Kat Uss², Chyi-Chia Lee⁷, Hyesun Kuehn⁸, Sergio Rosenzweig⁸, Katherine Calvo⁸, Magdalena Walkiewicz⁹, Justin Lack¹⁰, Eric Hanson¹¹, Amer Khojah¹², Eveline Wu¹³, Christiaan Scott¹⁴, Timothy Ronan Leahy¹⁵, Emma MacDermott¹⁵, Orla Kileen¹⁵, Thaschawee Arkachaisri¹⁶, Zoran Gucev¹⁷, Kathryn Cook¹⁸, Vafa Mammadova¹⁹, Gulnara Nasrullayeva¹⁹, Scott Canna²⁰, Douglas Kuhns²¹, Clifton Dalgard²², Timothy Moran²³, Andrew Oler³ and Raphaela Goldbach-Mansky²⁴, ¹TADS/NIAID/NIH, Silver Spring, MD, ²TADS/NIAID/NIH, Bethesda, MD, ³BCBB/NIAID/NIH, Bethesda, MD, ⁴National Institutes of Health, Chevy Chase, MD, ⁵TADS/NIAID/NIH, Clarksville, MD, ⁶Translational Autoinflammatory Diseases Section (TADS)/NIAID/NIH, Bethesda, MD, ⁷NCI/NIH, Bethesda, MD, ⁸CC/DLM/NIH, Bethesda, MD, ⁹CSI/NIAID/NIH, Bethesda, MD, ¹⁰NCBR/NIAID/NIH, Bethesda, MD, ¹¹Indiana University School of Medicine, Indianapolis, IN, ¹²Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ¹³UNC Chapel Hill, Chapel Hill, NC, ¹⁴Paediatric Rheumatology, University of Cape Town, Cape Town, South Africa, ¹⁵Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, ¹⁶KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, ¹⁷University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁸Akron Childrens Hospital, Copley, OH, ¹⁹Azerbaijan Medical University, Baku, Azerbaijan, ²⁰Children's Hospital of Philadelphia, Philadelphia, PA, ²¹Frederick National Laboratory for Cancer Research/NIH, Frederick, MD, ²²TAGC/USUHS, Bethesda, MD, ²³University of North Carolina School of Medicine, Chapel Hill, NC, ²⁴NIH/NIAID, Potomac, MD
Background/Purpose: Splice site variants in IKBKG that lead to exon 5 deletion cause NEMO-deleted exon 5 autoinflammatory syndrome (NEMO-NDAS). NEMO-NDAS clinically mimics the interferonopathy chronic…
Abstract Number: 1384 • ACR Convergence 2021
A Genomic Meta-Analysis of Clinical Variables and Association with Intrinsic Molecular Subsets in Systemic Sclerosis
Jennifer Franks¹, Diana Toledo¹, Viktor Martyanov¹, Yue Wang², Suiyuan Huang³, Tammara Wood¹, Cathie Spino³, Robyn Domsic⁴, Monique Hinchcliff⁵, Dinesh Khanna³ and Michael Whitfield⁶, ¹Geisel School of Medicine at Dartmouth, Hanover, NH, ²Geisel School of Medicine at Dartmouth, West Lebanon, NH, ³University of Michigan, Ann Arbor, MI, ⁴University of Pittsburgh, Pittsburgh, PA, ⁵Yale School of Medicine, Westport, CT, ⁶Geisel School of Medicine, Lebanon, NH
Background/Purpose: Four intrinsic molecular subsets (Inflammatory, Fibroproliferative, Limited, Normal-like) have been identified in systemic sclerosis (SSc) that may have different clinical associations. To test this…
Abstract Number: 1480 • ACR Convergence 2021
LncRNA XIST Alters the Balance of Peripheral Blood Immune Cells in Systemic Lupus Erythematosus by Regulating the miR-17-92/OFLM4 and CEACAM8 Axis
Qi Cheng, Mo Chen, xin Chen, peiyu zhang, huaxiang wu and yan du, Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China (People's Republic)
Background/Purpose: X-inactive-specific transcript (XIST) has been shown to silence linked genes on the X chromosome that may be related to the pathogenesis of systemic lupus…
Abstract Number: 1665 • ACR Convergence 2021
Physical Activity Moderates Inflammatory Gene Expression in Rheumatoid Arthritis
Sarah Patterson¹, Shenghuan Sun², Dmitry Rychkov², Alexandra Tsitsiklis², Paula Hayakawa Serpa², Patricia Katz², Charles Langelier² and Marina Sirota², ¹University of California San Francisco, Pacifica, CA, ²University of California San Francisco, San Francisco, CA
Background/Purpose: Prior studies show an independent association between greater physical activity and lower inflammatory markers among adults in the general population, but the impact of…
Abstract Number: 0051 • ACR Convergence 2021
Identification of Biomarkers and Deregulated Pathways in Psoriatic Arthritis Through Proteomic Analysis of Synovial Fluid
Jacqueline Lai¹, Sara Rahmati², Raam Sivakumar², Katerina Oikonomopoulou³, Fatima Abji⁴ and Vinod Chandran⁵, ¹McMaster University, Hamilton, ON, Canada, ²University Health Network, Toronto, ON, Canada, ³Krembil Research Institute, Toronto, ON, Canada, ⁴University of Toronto, University Health Network, Toronto, ON, Canada, ⁵Schroeder Arthritis Institute, Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada
Background/Purpose: Psoriatic arthritis (PsA) is an inflammatory arthritis that currently lacks diagnostic biomarkers. We hypothesized that there are differences in the protein intensities in the…
Abstract Number: 0258 • ACR Convergence 2021
Developing Electronic Health Record Algorithms That Accurately Identify Patients with Juvenile Idiopathic Arthritis
Hannah Peterson¹, April Barnado² and Anna Patrick², ¹Lipscomb University College of Pharmacy, Nashville, TN, ²Vanderbilt University Medical Center, Nashville, TN
Background/Purpose: Electronic Health Records (EHRs) store nearly all clinical data in one central location providing increased accessibility, accuracy, and security. At our institution, the Synthetic…
Abstract Number: 0331 • ACR Convergence 2021
Urinary MicroRNAs as Systemic Lupus Erythematosus Biomarkers and Its Potential for Accurate Assessment of Disease Severity
Hiroki Yamaguchi¹, Yoriko Ando¹, Mika Mizunuma¹, Masamichi Inami², Kenichi Suzumura² and Yuki Ichikawa¹, ¹Craif Inc., Nagoya, Japan, ²Analysis & Pharmacokinetics Research Labs., Astellas Pharma Inc., Tsukuba, Japan
Background/Purpose: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by autoantibody production, immune complex deposition, and heterogeneous clinical manifestations affecting many organs, including…
Abstract Number: 0341 • ACR Convergence 2021
Addition of Narrative Text Abstraction to ICD-Based Abstraction Significantly Improves Identification of Lupus Nephritis in Real-World Data
Meghan Tierney and Chris Rowe, PicnicHealth, San Francisco, CA
Background/Purpose: Lupus nephritis (LN) is often underrecognized and difficult to identify retrospectively, presenting challenges for clinicians and researchers hoping to explore this condition using real-world…
Abstract Number: 0502 • ACR Convergence 2021
Global Transcriptomic Profiling Identifies Differential Gene Expression Signatures Between Inflammatory and Non-inflammatory Aortic Aneurysms
Benjamin Hur¹, Matthew Koster¹, Jin Sung Jang¹, Kenneth Warrington² and Jaeyun Sung¹, ¹Mayo Clinic, Rochester, MN, ²Mayo Clinic, Rochester, Minnesota
Background/Purpose: Non-infectious aortitis may be a manifestation of systemic large vessel vasculitis such as giant cell arteritis (GCA) or may be a form of single…
Abstract Number: 0523 • ACR Convergence 2021
Transcriptional Subsetting of SLE Patient Cohorts Based on Metabolic Pathway Activity
Diogo Camacho, Jennifer Swantek, Keng Soh, Jurre Kamphorst, Vivek Kaimal, John Monroe and Edward Driggers, Rheos Medicines, Inc, Cambridge, MA
Background/Purpose: Systemic lupus erythematosus is a highly complex, heterogeneous, autoimmune disorder, with diverse clinical presentation and innate and adaptive immune system involvement. There is a…
Abstract Number: 0526 • ACR Convergence 2021
Transcriptional Factor Profiling Denotes Specific Synovial Macrophage Heterogeneity
Deborah Winter¹, Carla Cuda², Shang-Yang Chen², Anna Montgomery³, Salina Dominguez², Gaurav Gadhvi² and Harris Perlman², ¹Northwestern University Division of Rheumatology, Chicago, IL, ²Northwestern University, Chicago, IL, ³UCL, Chicago, IL
Background/Purpose: Macrophages are critical to the pathogenesis of rheumatoid arthritis(RA), but several distinct macrophage subpopulations co-exist in the synovium of joints. In steady-state, tissue-resident macrophages…
Abstract Number: 0660 • ACR Convergence 2021
Improving the Gout Flare Chart Review Using Linked Claims-EHR Data
Kazuki Yoshida, Tianrun Cai, Lily G. Bessette, Erin Kim, Su Been Lee, Luke E. Zabotka, Alec Sun, Jun Liu, DH Solomon, Katherine Liao and Seoyoung Kim, Brigham and Women's Hospital, Boston, MA
Background/Purpose: Recurrent gout flares are the most crucial outcome in studies of gout treatment. However, gout flares is challenging to identify in a large population…
Abstract Number: 0853 • ACR Convergence 2021
A Combined Patient Registry and Biobank Laboratory Information System for Prospective Multisite Chronic Rheumatic Disease Research Using REDCap
Craig Willers¹, Tom Lynch¹, Vibhasha Chand², Mohammad Islam³, Marissa Lassere⁴, Helen Keen⁵, Tony Kenna⁶, Susan Lester⁷, Ranjeny Thomas⁸, Premarani Sinnathurai⁹, Mihir Wechalekar¹⁰, Ashley Fletcher¹¹, Daniel Lightowler¹², Sheeraz Mohd¹³, Nishta Ramnoruth¹⁴, Carlee Ruediger¹⁵, Helen Weedon¹⁶ and Lyn March¹⁷, ¹Institute of Bone and Joint Research, Kolling Institute, University of Sydney, St Leonards, Australia, ²Public Health and Preventive Medicine, Monash University, Melbourne, Australia, ³Information and Communications Technology, University of Sydney, Sydney, Australia, ⁴St George Hospital; School of Population Health, University of New South Wales, Carlton, Australia, ⁵University of Western Australia, Daglish, Australia, ⁶Queensland University of Technology, School of Biomedical Sciences, Brisbane, Australia, ⁷Rheumatology Department, The Basil Hetzel Institute, The Queen Elizabeth Hospital, Adelaide, Australia, ⁸University of Queensland, Diamantina Institute, Brisbane, Australia, ⁹Institute of Bone and Joint Research, Kolling Institute, University of Sydney; Department of Rheumatology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, Australia, ¹⁰Flinders Medical Centre, Southern Adelaide Local Health Network, Bedford Park, Australia, ¹¹Cabrini Health, Malvern, Australia, ¹²Medical School, University of Western Australia; Rheumatology Department, Fiona Stanley Hospital, Perth, Australia, ¹³Fiona Stanley Hospital, South Metropolitan Health Services, Perth, Australia, ¹⁴Diamantina Institute, University of Queensland, Brisbane, Australia, ¹⁵University of Adelaide; The Queen Elizabeth Hospital, Adelaide, Australia, ¹⁶Flinders University, Bedford Park, Australia, ¹⁷Institute of Bone and Joint Research, Kolling Institute, University of Sydney; Department of Rheumatology, Royal North Shore Hospital, Northern Sydney Local Health District, St Leonards, Sydney, Australia
Background/Purpose: As we enter the big data revolution, comprehensive informatics solutions are essential to realising precision medicine for rheumatic and other chronic disease patients, especially…

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