Abstracts tagged "Bioinformatics"

Abstract Number: 0329 • ACR Convergence 2022
Scoring Personalized Molecular Portraits Identify Systemic Lupus Erythematosus Subtypes and Predict Individualized Drug Responses, Symptomatology and Disease Progression
Daniel Toro-Domínguez¹, Manuel Martinez-Bueno¹, Raúl López-Domínguez², Jordi Martorell-Marugán¹, Elena Carnero-Montoro¹, Guillermo Barturen¹, Daniel W. Goldman³, Michelle Petri³, Pedro Carmona-Sáez² and Marta Alarcon-Riquelme¹, ¹Center for Genomics and Oncological Research (GENYO), Granada, Spain, ²University of Granada, Granada, Spain, ³Johns Hopkins University School of Medicine, Division of Rheumatology, Baltimore, MD
Background/Purpose: Systemic Lupus Erythematosus is a complex autoimmune disease that leads to important worsening of quality of life and mortality. Flares appear unpredictably during the…
Abstract Number: 0935 • ACR Convergence 2022
Targeted Synovial Tissue RNA-Seq Coupled with Artificial Intelligence Accurately Predicts Early Rheumatoid Arthritis Patients Likely to Respond to CsDMARDs, Enriching CsDMARDs Response Rates and Enabling Early Identification of Patients Requiring Subsequent Biological Therapy
Giorgio CASABURI, Tyler O'Malley, Todd Holscher and Ming-Chou Lee, Exagen, Inc., Vista, CA
Background/Purpose: Rheumatoid arthritis (RA) is a chronic, inflammatory, systemic autoimmune disease, affecting the joints with varying severity. RA affects approximately 0.5/1% of adults in the…
Abstract Number: 1183 • ACR Convergence 2022
Functionally Distinct Fibroblast Populations in Systemic Sclerosis Skin Revealed by Explant Tissue Characterization and Single-cell RNAseq
Kristina Clark¹, Alice Cole², Shiwen Xu¹, Voon Ong³, Christopher Buckley⁴ and Chris Denton¹, ¹University College London, London, United Kingdom, ²Royal Free Hospital, London, United Kingdom, ³UCL Medical School Royal Free Campus, London, United Kingdom, ⁴University of Oxford, Oxford, United Kingdom
Background/Purpose: Traditional studies of skin fibroblasts in SSc focus on the early "migratory" fibroblast population derived from explant culture of skin biopsies. Single-cell RNAseq has…
Abstract Number: 2179 • ACR Convergence 2022
Spatial and Single-Cell Transcriptomics Identify Alcam+ Macrophage / CD6+ T-Cell Interactions and Accumulation of IgG2b+ Class-Switched Plasma Cells in Marco+ Medullary Sinuses of Joint-Draining Popliteal Lymph Nodes in TNF-Tg Mice with Advanced Arthritis
H. Mark Kenney¹, Yue Peng², Kiana Chen², Javier Rangel-Moreno², Elizabeth Pritchett², Jeffrey Fox², Benjamin Korman³, Jennifer Anolik², Lianping Xing⁴, Christopher Ritchlin⁵, Edward Schwarz² and Chia-Lung Wu², ¹University of Rochester Medical Center, Henrietta, NY, ²University of Rochester Medical Center, Rochester, NY, ³University of Rochester, Rochester, NY, ⁴University of Rochester Medical Center, Webster, NY, ⁵Allergy, Immunology and Rheumatology Division, University of Rochester Medical School, Canandaigua, NY
Background/Purpose: Severe inflammatory-erosive arthritis in tumor necrosis factor transgenic (TNF-Tg) mice is associated with B-cell translocation into sinuses of joint-draining popliteal lymph nodes (PLNs) via…
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…
Abstract Number: 0945 • ACR Convergence 2021
A Single-cell Atlas of Human Synovial Endothelial Cells in Inflammatory Arthritis
Sam Edalat¹, Reto Gerber², Miranda Houtman¹, Raphael Micheroli³, Kristina Buerki¹, Nadja Izanc¹, Blaz Burja⁴, Tadeja Kuret⁵, Snežna Sodin-Šemrl⁵, Adrian Ciurea³, Oliver Distler³, Caroline Ospelt¹, Chantal Pauli⁶, Mark Robinson⁷ and Mojca Frank-Bertoncelj³, ¹Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, ²Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich and Department of Molecular Life Sciences and SIB Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland, ³Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich/University of Zurich, Zurich, Switzerland, ⁴Center of Experimental Rheumatology, Department of Rheumatology, University Hospital Zurich, University of Zurich and Department of Rheumatology, University Medical Centre Ljubljana, Zurich, Switzerland, ⁵Department of Rheumatology, University Medical Centre Ljubljana, Ljubljana, Slovenia, ⁶Department of Pathology, University Hospital Zurich, University of Zurich, Zurich, Switzerland, ⁷Department of Molecular Life Sciences and SIB Swiss Institute of Bioinformatics, University of Zurich, Zurich, Switzerland
Background/Purpose: Dysregulated endothelial cell (EC) function and altered (lympho)angiogenesis crucially contribute to synovial pathology in inflammatory arthritis. Additionally, endothelium plays a key role in the…
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…

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