Abstracts tagged "genetics"

Abstract Number: 013 • 2023 Pediatric Rheumatology Symposium
Applying Pathway Analysis to Whole Genome Data to Identify Pathophysiologic Pathways in Childhood-onset Systemic Lupus Erythematosus
Katie Heitzman¹, Luis Franco², Linda Hiraki³, Earl Silverman³, Christiaan Scott⁴, Ana Barrera-Vargas⁵, Zuoming Deng², Mariana Kaplan² and Laura Lewandowski², ¹NIH, Bethesda, MD, ²NIAMS, NIH, Bethesda, MD, ³The Hospital for Sick Children, Toronto, ON, Canada, ⁴University of Cape Town, South Africa, ⁵Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de Mexico, Mexico
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disorder. The pathogenesis of SLE is not fully understood, but twin/sibling high concordance rate suggests…
Abstract Number: 023 • 2023 Pediatric Rheumatology Symposium
Effect of Type 1 Interferons and JAK Inhibitors on Gene Expression in Bioengineered Pediatric Skeletal Muscle
Lauren Covert¹, Joseph Prinz², Hailee Patel³, Jeffrey Dvergsten⁴ and George Truskey³, ¹Duke University, Durham, NC, ²Duke University School of Medicine, Department of Biostatistics and Bioinformatics, Durham, NC, ³Duke University, Department of Biomedical Engineering, Durham, NC, ⁴Duke University Hospital, Durham, NC
Background/Purpose: Genetic studies of new-onset juvenile dermatomyositis (JDM) exhibit elevation of Type 1 interferons (IFN 1) IFNα and IFNβ in blood, skin, and muscle. To…
Abstract Number: 034 • 2023 Pediatric Rheumatology Symposium
STAT3 Gain-of-function Syndrome Mutations Are Susceptible to JAK Inhibition Despite a Spectrum of Potency
Herda Ona¹, Justin Branch², Isabella Osuna¹, Priscilla vasquez², Anaid Reyes¹, Phillip Baker¹, Michael Clowers¹, Stephanie Wood¹ and Tiphanie Vogel¹, ¹Baylor College of Medicine, Houston, TX, ²Baylor College of Medicine, Texas Children's Hospital, Houston, TX
Background/Purpose: STAT3 gain-of-function (GOF) syndrome is a rare inborn error of immunity that leads to early-onset lymphoproliferation, autoimmune cytopenias, multi-solid organ autoimmunity, hypogammaglobulinemia, and short…
Abstract Number: 128 • 2023 Pediatric Rheumatology Symposium
Multisystem Inflammatory Syndrome in Children and Systemic Juvenile Idiopathic Arthritis Share Clinical Phenotypes and Genetic Contributions
Paul Tsoukas¹, Hua Lu², Marla Mendes de Aquino², Michael Ombrello³, Lisa Strug² and Rae Yeung⁴, ¹The Hospital of Sick Children, Department of Paediatrics, University of Toronto, Division of Rheumatology; Cell Biology Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, North Bethesda, MD, ⁴The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
Background/Purpose: Multisystem inflammatory syndrome in children (MIS-C) is a novel clinical entity presenting following SARS CoV2 infection. This study describes a subgroup of MIS-C patients…
Abstract Number: L12 • ACR Convergence 2022
First Line Treatment Using Recombinant IL-1Receptor Antagonist in New Onset Systemic Juvenile Idiopathic Arthritis Is an Effective Treatment Strategy, Irrespective of HLA DRB1 Background
Remco Erkens¹, Rashmi Sinha², Alex Pickering³, Grant Schulert⁴, Alexei Grom⁴, Lars van der Veken¹, Hanneke van Deutekom¹, Jorg Calis¹, Jorg van Loosdregt⁵ and Sebastiaan Vastert¹, ¹University Medical Center Utrecht, Utrecht, Netherlands, ²Systemic JIA Foundation, Cincinnati, OH, ³Systemic JIA Foundation, San Francisso, CA, ⁴Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁵University Medical Center Utrecht, Wilhelmina Children's Hospital, Zeist, Netherlands
Background/Purpose: Systemic Juvenile Idiopathic Arthritis (sJIA) is a severe subtype of JIA. Recently, interstitial lung disease (SJIA-LD) has been reported as a severe complication of…
Abstract Number: 0137 • ACR Convergence 2022
Polyarticular Arthritis and Osteolysis Caused by Mutations in the ASAH1 Gene: Farber Disease Clinical Presentations in the First-ever Natural History Study
Alexander Solyom¹, Kathleen Crosby², Nils Confer² and Jaime Lopez Valdez³, ¹Aceragen, Basel, Switzerland, ²Aceragen, Durham, NC, ³Centenario Hospital Miguel Hidalgo, Aguascalientes, Mexico
Background/Purpose: Farber disease is frequently misdiagnosed as polyarticular juvenile idiopathic arthritis or seronegative rheumatoid arthritis which leads to a delay in diagnosis for many patients.…
Abstract Number: 1120 • ACR Convergence 2022
Transcriptome-Wide Association Study of Sjögren’s Disease Risk Alleles Identifies Novel Genes with Altered Expression in Minor Salivary Gland and Other Tissues
Marcin Radziszewski¹, Mandi Wiley¹, Bhuwan Khatri¹, Kandice Tessneer¹, Astrid Rasmussen¹, Professor Simon Bowman², Lida Radfar³, Roald Omdal⁴, Marie Wahren-Herlenius⁵, Blake Warner⁶, Torsten Witte⁷, Roland Jonsson⁸, Maureen Rischmueller⁹, Patrick Gaffney¹, Judith James¹, Lars Ronnblom¹⁰, R. Hal Scofield³, Xavier Mariette¹¹, Marta Alarcon-Riquelme¹², Fai Ng¹³, Gunnel Nordmark¹⁰, Umesh Deshmukh¹, A. Darise Farris¹ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Hospitals Birmingham, Birmingham, United Kingdom, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴Stavanger University, Stavanger, Norway, ⁵Karolinska Institutet, Stockholm, Sweden, ⁶National Institutes of Health, Bethesda, MD, ⁷MH-Hannover, Hannover, Germany, ⁸University of Bergen, Bergen, Norway, ⁹RheumatologySA, Adelaide, Australia, ¹⁰Uppsala University, Uppsala, Sweden, ¹¹Paris-Saclay University, Rueil Malmaison, Ile-de-France, France, ¹²Center for Genomics and Oncological Research (GENYO), Granada, Spain, ¹³Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom
Background/Purpose: Sjögren's disease (SjD) is an autoimmune disease characterized by reduced function of exocrine glands, but also has systemic manifestations affecting multiple organs, including abnormal…
Abstract Number: 1538 • ACR Convergence 2022
Decreased Prevalence of Autoimmune Connective Tissue Diseases in Type 1 and Type 2 Diabetes
Aya abugharbyeh, Sadik Khuder and bashar Kahaleh, University of Toledo, Toledo, OH
Background/Purpose: Evidence suggest that autoimmune diseases tend to coexist at a higher rate than expected, reflecting a common pathogenetic pathway. However, data sets have shown…
Abstract Number: 2177 • ACR Convergence 2022
Familial Clustering of Systemic Sclerosis, Autoimmunity, and Cancer History
Mariana Bombini¹, Nailú Sinicato¹, Jacqueline Paredes², Theresa Wampler Muskardin², Tiago Nardi Amaral¹, Ana Paula Del Rio¹, Joao Marques Neto³, Timothy Niewold² and Simone Appenzeller⁴, ¹State University of Campinas, Campinas, São Paulo, Brazil, ²Hospital for Special Surgery, New York, NY, ³State University of Campinas, São Paulo, Brazil, ⁴Unicamp, Campinas, São Paulo, Brazil
Background/Purpose: Systemic sclerosis (SSc) is a complex disease characterized by chronic inflammation, fibrosis, and vasculopathy. Genetic factors contribute to pathogenesis, but because it is a…
Abstract Number: 0149 • ACR Convergence 2022
Autoinflammatory Diseases Associated with NOD2 and Other Concurrent Genetic Mutations
Hafsa Nomani, Brianne Navetta-Modrov, Mark Yun and QingPing Yao, Stony Brook University, Stony Brook, NY
Background/Purpose: Systemic autoinflammatoy diseases (SAIDs) are primarily caused by abnormal innate immune response. NOD-like receptors (NLRs) are intracellular sensors to the immune process, including NOD2,…
Abstract Number: 1121 • ACR Convergence 2022
Intricate Roles of Low Gene Copy Numbers for Complement C4, C4A Deficiency and HLA-DRB1*03 as Genetic Risk Factors for Myositis, Its Subgroups and Autoantibodies
Danlei Zhou¹, Emily H King¹, Simon Rothwell², Olga Kryštůfková³, Antonella Notarnicola⁴, Samantha Coss¹, Rabheh Abdul Aziz⁵, Katherine E Miller¹, Amanda Dang¹, G. Richard Yu¹, Joanne Drew⁶, Emeli Lundstrom⁴, Lauren Pachman⁷, Gulnara Mamyrova⁸, Rodolfo V Curiel⁸, Boel De Paepe⁹, Jan De Bleecker⁹, Antony Payton¹⁰, William Ollier¹¹, Terrance P O'Hanlon¹², Ira Targoff¹², Willy Flegel¹², Vidya Sivaraman⁶, Edward Oberle⁶, Shoghik Akoghlanian⁶, Kyla Driest⁶, Charles H Spencer¹³, Yee Ling Wu¹⁴, Haikady N Nagaraja¹⁵, Stacy P Ardoin⁶, Hector Chinoy¹⁶, Lisa G Rider¹², Frederick Miller¹², Ingrid Lundberg¹⁷, Leonid Padyukov¹⁸, Jiří Vencovský³, Janine A Lamb² and Chack-Yung Yu¹, ¹Center for Microbial Pathogenesis, Abigail Wexner Research Institute, Nationwide Children’s Hospital, Columbus, OH, ²National Institute for Health Research Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, The University of Manchester, Manchester, United Kingdom, ³Institute of Rheumatology and Department of Rheumatology, First Faculty of Medicine, Charles University, Prague, Czech Republic, ⁴Division of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden, ⁵Division of Rheumatology, Nationwide Children’s Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, ⁶Division of Rheumatology, Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, OH, ⁷Northwestern's Feinberg School of Medicine. Ann and Robert H. Lurie Children's Hospital of Chicago; Stanley Manne Children's Research Institute of Chicago, Lake Forest, IL, ⁸Division of Rheumatology, Department of Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC, ⁹Department of Neurology, Ghent University Hospital, Ghent, Belgium, ¹⁰Division of Informatics, Imaging and Data Sciences, School of Health Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom, ¹¹Faculty of Science and Engineering, Manchester Metropolitan University, Manchester, United Kingdom, ¹²Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health, Bethesda, MD, ¹³Division of Rheumatology, Nationwide Children’s Hospital and Department of Pediatrics, The Ohio State University, Columbus, MS, ¹⁴Department of Microbiology and Immunology, Loyola University Chicago, Maywood, IL, ¹⁵Division of Biostatistics, The Ohio State University, Columbus, OH, ¹⁶The University of Manchester, Sale, United Kingdom, ¹⁷Karolinska Universitetssjukhuset, Karolinska Institutet, Stockholm, Sweden, ¹⁸Karolinska Institutet, Stockholm, Sweden
Background/Purpose: Idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases characterized by autoantibodies plus infiltration of leukocytes into muscles and/or the skin, leading to…
Abstract Number: 1552 • ACR Convergence 2022
Rare Variant Analysis of Aortopathy Genes in Takayasu’s Arteritis
Hugh Alessi¹, Yiming Luo¹, Kaitlin Quinn² and Peter Grayson³, ¹NIH, Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: A set of genes has been associated with aortopathies, which are defined as non-inflammatory diseases where the integrity of large arteries is compromised leading…
Abstract Number: 2230 • ACR Convergence 2022
Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study
Yiming Luo¹, Marcela Ferrada¹, Keith Sikora², Daniel Kastner³, Zuoming Deng⁴, Mengqi Zhang⁵, Hugh Alessi¹, Virginia Kraus⁶, Andrew Allen⁶ and Peter Grayson⁷, ¹National Institutes of Health, Bethesda, MD, ²National Institutes of Health Clinical Center, Bethesda, MD, ³National Human Genome Research Institute, Bethesda, MD, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁵University of Pennsylvania, Philadelphia, PA, ⁶Duke University, Durham, NC, ⁷National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Relapsing polychondritis (RP) is a rare rheumatic disease of unknown etiology characterized by inflammations of cartilaginous structures and other tissues, particularly the ears, nose,…
Abstract Number: 0336 • ACR Convergence 2022
Machine Learning Approach for the Prediction of Lupus Nephritis Renal Flares Using Polygenic Risk Score and Electronic Health Record
Yi-Ming Chen¹, Tzu-Hung Hsiao¹, Seng-Cho Chou² and Chi-Wei Chung², ¹Taichung Veterans General Hospital, Taichung, Taiwan, ²Department of Information Management, National Taiwan University, Taipei, Taiwan
Background/Purpose: Lupus nephritis (LN) flares are associated with risks of renal failure and mortality in patients with systemic lupus erythematous (SLE). It is critical to…
Abstract Number: 1122 • ACR Convergence 2022
Short Peripheral Blood Leukocyte Telomere Length in Rheumatoid Arthritis – Interstitial Lung Disease
Pierre-Antoine Juge¹, Tracy Doyle², Seoyeon Lee³, Avram Walts⁴, Anthony Esposito⁵, Sergio Poli de Frias⁶, Ritu R. Gill⁷, Hiroto Hatabu⁸, Mizuki Nishino⁸, Michael Weinblatt⁹, Nancy A. Shadick⁶, Kristen Demoruelle¹⁰, Ivan O. Rosas¹¹, Benjamin granger¹², Kevin D Deane¹³, Bruno Crestani¹⁴, Paul Wolters¹⁵, Philippe Dieude¹⁶ and Joyce Lee¹³, ¹Rheumatology department, Bichat Hospital, Paris, France, ²Brigham and Women's Hospital, Boston, MA, ³Department of Medicine, University of California, San Francisco, CA, ⁴Department of medicine, National Jewish Hospital, Denver, CO, ⁵Brigham and Women's Hospital, Department of Medicine, Boston, MA, ⁶Department of Medicine, Brigham and Women's Hospital, Boston, MA, ⁷Beth Israel Deaconess Medical Center, Radiology Department, Boston, MA, ⁸Department of Radiology, Brigham and Women's Hospital, Boston, MA, ⁹Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ¹⁰Department of Medicine, University of Colorado, Denver, CO, ¹¹Baylor College of Medicine, Houston, TX, ¹²Sorbonne Université, INSERM, Institut Pierre Louis d’Epidémiologie et de Santé Publique, PEPITES, F75013, Paris, France, Paris, France, ¹³University of Colorado Denver Anschutz Medical Campus, Denver, CO, ¹⁴Hopital Bichat, Paris University, Paris, France, ¹⁵UCSF, SF, ¹⁶Université Paris Cité, Paris, France
Background/Purpose: Shortened telomere lengths (TL) have been associated with interstitial lung disease (ILD), in particular idiopathic pulmonary fibrosis (IPF). Given the phenotypic overlap between IPF…

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