Abstracts tagged "Bioinformatics"

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…
Abstract Number: 1989 • ACR Convergence 2020
NXP2 Autoantibodies Link to Interferon Signature in Juvenile Myositis Lesional Skin
Jessica Turnier¹, Lauren Pachman², Lori Lowe³, Alex Tsoi³, Sultan Elhaj¹, Rajasree Menon¹, Maria Amoruso², Gabrielle Morgan⁴, Johann Gudjonsson⁵, Celine Berthier³ and J Michelle Kahlenberg¹, ¹University of Michigan, Ann Arbor, MI, ²Northwestern University Feinberg School of Medicine, Chicago, IL, ³University of Michigan, Ann Arbor, ⁴Ann & Robert H. Lurie Children's Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, IL, ⁵University of Michigan, Ann ArborUniversity of Michigan
Background/Purpose: Skin inflammation can herald systemic disease in juvenile myositis (JM), yet we lack an understanding of pathogenic mechanisms driving skin inflammation in JM. The…
Abstract Number: 0502 • ACR Convergence 2020
Integration of Clinical and Protein Markers Through Machine Learning to Distinguish Patients with Psoriasis Arthritis from Those with Psoriasis Without Psoriatic Arthritis
Sara Rahmati¹, Fatima Abji¹, Proton Rahman² and Vinod Chandran³, ¹University Health Network, Toronto, ON, Canada, ²Memorial University of Newfoundland, Department of Medicine, St John's, Canada, ³Krembil Research Institute, Toronto Western Hospital, Toronto, ON, Canada
Background/Purpose: Psoriatic Arthritis (PsA) is a progressive inflammatory arthritis that occurs in about 24% of psoriasis patients. Early diagnosis of PsA is associated with better…
Abstract Number: 0752 • ACR Convergence 2020
Serum Proteomics Implicates Neutrophil Degranulation in Rheumatoid Arthritis Disease Activity
Liam O'Neil¹, Vidyanand Anaparti¹, Dana Wiens¹, Irene Smolik¹, Xiaobo Meng¹ and Hani El-Gabalawy¹, ¹University of Manitoba, Winnipeg, MB, Canada
Background/Purpose: Though targeted therapeutics have improved outcomes in Rheumatoid Arthritis (RA) treatment, the understanding of the underlying biological mechanisms that mediate inflammatory arthritis in RA…

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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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