Abstracts tagged "Bioinformatics"

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: 0244 • ACR Convergence 2020
What Are the Early versus Late Predictors for Systemic Lupus Erythematosus (SLE) Diagnosis?
Yiting Wang¹, Kirsten Lum², Karen Costenbader³, Grace Wang⁴, Jennifer Lofland⁵, Dominik Naessens⁶, Yihan Zhao⁷, Kourtney Davis⁸ and Chetan Karyekar⁹, ¹Janssen Research & Development, LLC, Newark, DE, ²Janssen Pharm Technology - Data Sciences and Data Management, Horsham, PA, ³Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ⁴Janssen Pharmaceuticals, Horsham, ⁵Janssen Global Market Access, horsham, PA, ⁶Jassen Global Market Access, Beerse, Belgium, ⁷Janssen Pharm Technology - Data Sciences and Data Management, Horsham, ⁸Janssen R&D, LLC, Titusville, NJ, ⁹Janssen Global Services, LLC, Horsham, PA
Background/Purpose: SLE is clinically heterogenous and its diagnosis is often difficult or delayed. The length of time from symptom onset or from when patients seek…
Abstract Number: 1559 • ACR Convergence 2020
Fully Automatic Assessment of Nail Fold Capillaroscopy Software – Early Results
Olga Brzezińska¹, Krzysztof Rychlicki-Kicior² and Joanna Makowska¹, ¹Department of Rheumatology, Medical University of Lodz, Poland, Lodz, Lodzkie, Poland, ²University of Economics and Human Sciences in Warsaw, Poland, Lodz, Poland
Background/Purpose: Changes in capillaroscopy nailfold image are a valuable element in the diagnostic procedure and monitoring of systemic sclerosis as well as other systemic diseases.…
Abstract Number: 0261 • ACR Convergence 2020
Predictors of Future Repeat Renal Biopsies in Patients with Lupus Nephritis and Influence of Repeat Biopsy in Flare Management: A Retrospective Study
Rosalba Santana-Flores¹, Anitha Ramu¹, Hana Rajevac² and Belinda Jim³, ¹Jacobi Medical Center at Albert Einstein College of Medicine, BRONX, NY, ²James J Peters Medical Center, NEW YORK, NY, ³Jacobi Medical Center at Albert Einstein College of Medicine, New Hyde Park, NY
Background/Purpose: Repeat renal biopsies are considered in patients with Lupus Nephritis (LN) flares or with failure of response to treatment. The influence of repeat renal…
Abstract Number: 1809 • ACR Convergence 2020
Serum Cytokine Profiling in Systemic Lupus Erythematosus, Analysed Using Unsupervised Machine Learning, Reveals Clinically Relevant Clusters
Fabien Vincent¹, Jannina Ong¹, Alberta Hoi², Sarah Boyd¹, Hieu Nim¹ and Eric Morand³, ¹Monash University, Clayton, Victoria, Australia, ²Monash University, Melbourne, Victoria, Australia, ³Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Australia
Background/Purpose: SLE is a heterogeneous disease, where a better understanding of molecular differences between patients is needed in order to direct therapy. Existing approaches generally…
Abstract Number: 0426 • ACR Convergence 2020
T-Cell Receptor (TCR) Sequencing Reveals Decreased Diversity and Clonotypic Expansion of T-cells in Relapsing Polychondritis (RP)
Emily Rominger¹, Sufia Bakshi², Emily Rose³, Marcela Ferrada³, Peter C. Grayson⁴, Robert Colbert⁵ and Keith Sikora⁶, ¹Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, ²National Institutes of Health, Bethesda, MD, ³Systemic Autoimmunity Branch, Vasculitis Translational Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁴Systemic Autoimmunity Branch, National Institutes of Health, NIAMS, Bethesda, MD, ⁵Pediatric Clinical Trials Unit and Office of Clinical Director, NIAMS, NIH, Bethesda, MD, ⁶National Institutes of Health Clinical Center, Bethesda, MD
Background/Purpose: Relapsing polychondritis (RP) is a rare, systemic inflammatory disease characterized by recurrent inflammation of cartilaginous structures, including the nose/ears, joints, and trachea. The etiology of…
Abstract Number: 1850 • ACR Convergence 2020
The Association Between Imaging Sub-phenotypes of Psoriatic Arthritis and Gene Expression Profiles
Lihi Eder¹, Lee Quan², Sara Rahmati³, Iris Eshed⁴, Proton Rahman⁵, Igor Jurisica⁶ and Vinod Chandran⁷, ¹Women’s College Research Institute, University of Toronto, Toronto, ON, Canada, ²University of Toronto, Toronto, Canada, ³University Health Network, Toronto, ON, Canada, ⁴Sheba Medical Center, Tel-Aviv, Israel, ⁵Memorial University of Newfoundland, Department of Medicine, St John's, Canada, ⁶Krembil RI, Toronto, Canada, ⁷Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada
Background/Purpose: Heterogeneity is a hallmark of psoriatic arthritis (PsA), which is reflected in diverse clinical, imaging and molecular features, various disease courses and treatment responses.…
Abstract Number: 0471 • ACR Convergence 2020
Splice Site Variants in IKBKG, Encoding NEMO, Detected by a Customized Analysis of Next-Generation Sequencing Data Cause an Early-onset Autoinflammatory Syndrome of Panniculitis and Cytopenias in Male and Female Patients
Adriana de Jesus¹, Sofia Torreggiani², Bin Lin², Jacob Mitchell², Eric Karlins³, Andrew Oler³, Sara Alehashemi⁴, Dana Kahle⁵, Katelin R. Honer², Gema Souto Adeva², Eric Hanson⁶, Gina Montealegre Sanchez⁷, Amer Khojah⁸, Timothy Moran⁹, Eveline Wu⁹, Chris Scott¹⁰, Timothy Ronan Leahy¹¹, Emma Jane MacDermott¹¹, Orla Killeen¹², Thaschawee Arkachaisri¹³, Zoran Gucev¹⁴, Kathryn Phillippi¹⁵, Vafa Mammadova¹⁶, Gulnara Nasrullayeva¹⁶ and Raphaela Goldbach-Mansky¹⁷, ¹Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Silver Spring, MD, ²Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, MD, ³Bioinformatics and Computational Biosciences Branch/NIAID/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Clarksville, MD, ⁵Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Bethesda, ⁶Indiana University School of Medicine, Indianapolis, IN, ⁷NIAID/NIH, Rockville, MD, ⁸Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, ⁹UNC Chapel Hill, Chapel Hill, NC, ¹⁰University of Cape Town, Cape Town, South Africa, ¹¹Our Lady's Children's Hospital, Dublin, Ireland, ¹²National Centre for Paediatric Rheumatology, CHI at Crumlin, Dublin, Ireland, ¹³Duke-NUS Medical School, Singapore, Singapore, ¹⁴University Children's Hospital, Medical Faculty Skopje, Skopje, Macedonia, ¹⁵Akron Children’s Hospital, Akron, OH, ¹⁶Azerbaijan Medical University, Baku, Azerbaijan, ¹⁷Translational Autoinflammatory Disease Section (TADS)/NIAID/NIH, Potomac, MD
Background/Purpose: The Inhibitor of Kappa-B Kinase Regulatory Subunit Gamma (IKBKG) is located on the X chromosome and encodes the NF-κB essential modulator (NEMO). Loss-of-function mutations…
Abstract Number: 1860 • ACR Convergence 2020
An Integrative Approach to Identify Heritable and De Novo Genomic Variations in Psoriatic Arthritis Mutilans and Understand Its Systems Biology
Sara Rahmati¹, Quan Li¹, Dafna Gladman², Proton Rahman³ and Vinod Chandran², ¹University Health Network, Toronto, ON, Canada, ²Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada, ³Memorial University of Newfoundland, Department of Medicine, St John's, Canada
Background/Purpose: Psoriasis is a chronic autoimmune skin disease that burdens ~3% of North Americans. ~24% of psoriatic patients develop psoriasis arthritis (PsA), an inflammatory disease…
Abstract Number: 0495 • ACR Convergence 2020
Epstein Barr Virus (EBV), an Etiologic Factor for Systemic Lupus Erythematosus (SLE), Interacts with SLE Risk Loci Through EBV-encoded Transcription Co-factors (co-TFs)
Viktoryia Laurynenka¹, Xiaoting Chen¹, Sreeja Parameswaran¹, Shruti Eswar², Kenneth Kaufman³, Bahram Namjou⁴, Matthew Weirauch⁵, Leah Kottyan⁴ and John Harley⁶, ¹Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ²Cincinnati Children’s Hospital Medical Center, Cincinnati, ³Cincinnati Children’s Hospital Medical Center;US Department of Veterans Affairs Medical Center, Cincinnati, OH, ⁴Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, Cincinnati, OH, ⁵Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, ⁶Cincinnati Children's Hospital Medical Center/Univ of Cincinnati College of Medicine, Cincinnati, OH
Background/Purpose: SLE affects millions worldwide. The etiology of this complex autoimmune disease is the consequence of both strong genetic and environmental components. Genome-wide association studies…
Abstract Number: 1955 • ACR Convergence 2020
High-throughput Identification of Functional Regulatory SNPs Associated with Systemic Lupus Erythematosus
Qiang Wang¹, Marta Martínez², Matthew Weirauch³ and Peter Nigrovic⁴, ¹Brigham and Women's Hospital, Boston, MA, ²Brigham and Women's Hospital, Boston, ³Cincinnati Children’s Hospital Medical Center/Univ of Cincinnati, 535 Terrace Ave, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA; Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA, Boston
Background/Purpose: Systemic lupus erythematosus (SLE) is a disease involves the complex interplay of many genes, reflected in more than one hundred loci linked with disease…
Abstract Number: 0500 • ACR Convergence 2020
Genomic, Phenomic, Proteomic Predictors of Psoriatic Arthritis
Jessica Walsh¹, Sophie Belman², Courtney Carroll², Michael Milliken², Benjamin Haaland², Kristina Callis Duffin², Gerald Krueger² and Bing-jian Feng², ¹University of Utah School of Medicine, George E. Wahlen Veteran Affairs Medical Center, Salt Lake City, UT, ²University of Utah, Salt Lake City, UT
Background/Purpose: Delays in diagnosis of psoriatic arthritis (PsA) are common and impair quality of life and function. The study objective was to identify phenotypes, genetic…

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