Abstracts tagged "genomics"

Abstract Number: 0766 • ACR Convergence 2024
Neutrophil Transcriptomics in VEXAS Syndrome
Chloe Palmer¹, Gustaf Wigerblad¹, Tom Hill², Bhavisha Patel³, Emma Groarke⁴, Neal Young⁴, Stefania Dell'Orso⁵ and Peter Grayson⁶, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ³National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Beltsville, MD, ⁴National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD, ⁵National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁶National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: Vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by somatic mutations of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene and…
Abstract Number: 0960 • ACR Convergence 2024
The Esophageal Epithelium in Systemic Sclerosis: Cellular and Molecular Dysregulation Revealed by Single-Cell RNA Sequencing
Matthew Dapas¹, Margarette Clevenger¹, Hadijat Makinde², Tyler Therron¹, Dustin Carlson¹, Mary Carns³, Kathleen Aren³, Carrie Richardson², Cenfu Wei², Lutfiyya Muhammad⁴, John Pandolfino¹, Harris Perlman², Deborah Winter⁵ and Marie-Pier Tetreault¹, ¹Northwestern University, Chicago, ²Northwestern University, Chicago, IL, ³Northwestern University Division of Rheumatology, Chicago, IL, ⁴Northwestern Feinberg School of Medicine, Chicago, IL, ⁵Northwestern University, Skokie, IL
Background/Purpose: Systemic sclerosis (SSc) is a rare autoimmune disease characterized by vasculopathy and progressive fibrosis of the skin and internal organs. Individuals with SSc often…
Abstract Number: 2036 • ACR Convergence 2024
CCN6 Gene Mutation Induces Mitochondrial Dysfunction: The Cause of Progressive Pseudo-rheumatoid Dysplasia
Yanhong Li¹, Xiufeng Bai² and Yi Liu³, ¹West China School of Medicine and West China Hospital, Sichuan University, Cheng Du, Sichuan, China, ²West China Hospital, Sichuan University, Chengdu, Sichuan, China (People's Republic), ³West China Hospital of Sichuan University, Chengdu, Sichuan, China
Background/Purpose: Progressive pseudo-rheumatoid dysplasia (PPRD) is a rare autosomal recessive disorder characterized by non-inflammatory joint issues that primarily affect the articular cartilage. This leads to…
Abstract Number: 0869 • ACR Convergence 2024
Deciphering Pathogenic Phenotypes by Multi-modal Deep Single-cell Blood Immunophenotyping in Individuals At-risk for Rheumatoid Arthritis
Jun Inamo¹, Joshua Keegan², Alec Griffith², Tusharkanti Ghosh¹, Alice Horisberger², Kaitlyn Howard², John Pulford², Ekaterina Murzin², Brandon Hancock², Thomas Eisenhaure³, Salina Dominguez⁴, Miranda Gurra⁵, Siddarth Gurajala³, Anna Helena Jonsson¹, Jennifer Seifert⁶, Marie Feser⁷, Jill Norris⁸, Ye Cao², William Apruzzese⁹, S. Louis Bridges¹⁰, Vivian Bykerk¹¹, Susan Goodman¹², Laura Donlin¹¹, Gary S. Firestein¹³, Joan Bathon¹⁴, Laura B. Hughes¹⁵, Darren Tabechian¹⁶, Andrew Filer¹⁷, Costantino Pitzalis¹⁸, Jennifer Anolik¹⁹, Larry Moreland²⁰, Nir Hacohen²¹, Joel Guthridge²², Judith James²², Carla Cuda⁵, Harris Perlman⁵, Michael B. Brenner², Soumya Raychaudhuri²³, Jeffrey Sparks²⁴, Michael Holers⁷, Kevin Deane²⁵, James A. Lederer²⁶, Deepak Rao²⁶ and Fan Zhang²⁷, and the Accelerating Medicines Partnership RA/SLE Network, ¹University of Colorado School of Medicine, Aurora, CO, ²Brigham and Women's Hospital and Harvard Medical School, Boston, MA, ³Broad Institute of MIT and Harvard, Cambridge, ⁴Northwestern University, Chicago, ⁵Northwestern University, Chicago, IL, ⁶University of Colorado and Oklahoma Medical Research Foundation, Aurora, CO, ⁷Division of Rheumatology, University of Colorado School of Medicine, Aurora, CO, ⁸Colorado School of Public Health, Denver, CO, ⁹Accelerating Medicines Partnership® Program: Rheumatoid Arthritis and Systemic Lupus Erythematosus (AMP® RA/SLE) Network, Boston, MA, ¹⁰Division of Rheumatology, Weill Cornell Medical College, New York, NY, ¹¹Hospital For Special Surgery, New York, NY, ¹²Hospital for Special Surgery, New York 10025, NY, ¹³University of California, San Diego, La Jolla, ¹⁴Columbia University, New York, NY, ¹⁵University of Alabama at Birmingham Medicine, Birmingham, AL, ¹⁶University of Rochester Medical Center, Rochester, ¹⁷Rheumatology Research Group, Institute for Inflammation and Ageing, NIHR Birmingham Biomedical Research Center and Clinical Research Facility, University of Birmingham, Birmingham, United Kingdom, ¹⁸QMUL, Bromley Kent, United Kingdom, ¹⁹University of Rochester Medical Center, Rochester, NY, ²⁰University of Colorado, Denver, CO, ²¹Broad Institute of MIT and Harvard, Boston, MA, ²²Oklahoma Medical Research Foundation, Oklahoma City, OK, ²³Brigham and Women's Hospital, Boston, MA, ²⁴Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA, Boston, MA, ²⁵University of Colorado Denver Anschutz Medical Campus, Aurora, CO, ²⁶Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ²⁷University of Colorado, Aurora, CO
Background/Purpose: Rheumatoid arthritis (RA) is a systemic autoimmune disease with currently no effective prevention strategies. Single-cell technologies have been recently used to investigate established RA…
Abstract Number: 0962 • ACR Convergence 2024
Characterizing the Contribution of Myeloid Cells to Limited and Diffuse Cutaneous Systemic Sclerosis
Parker Jones¹, Salina Dominguez², Miranda Gurra³, Gaurav Gadhvi⁴, Tyler Therron², Kathleen Aren⁵, Carla Cuda³, Monique Hinchcliff⁶, Harris Perlman³, Hadijat Makinde³ and Deborah Winter⁷, ¹Northwestern University Feinberg School of Medicine, Chicago, IL, ²Northwestern University, Chicago, ³Northwestern University, Chicago, IL, ⁴University of Michigan, Ann Arbor, MI, ⁵Northwestern University Division of Rheumatology, Chicago, IL, ⁶Yale School of Medicine, Westport, CT, ⁷Northwestern University, Skokie, IL
Background/Purpose: Systemic sclerosis (SSc) is an autoimmune disease characterized by multiorgan fibrosis. The two main subtypes are diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc…
Abstract Number: 2267 • ACR Convergence 2024
A Novel Blood-based Assay That Predicts Clinical Response to TNFα Inhibitors or Janus Kinase Inhibitors in Patients with Rheumatoid Arthritis
Maggie Louie¹, Signe Fransen², Katherine Dilger¹, Kevin Lai¹, Diana Abdueva³, David Chernoff⁴ and Jeffrey Curtis⁵, ¹Aqtual Inc, Hayward, CA, ²Aqtual Inc., sf, CA, ³Aqtual Inc., Hayward, CA, ⁴SetPoint Medical, Sausalito, CA, ⁵University of Alabama at Birmingham, Hoover, AL
Background/Purpose: Current rheumatoid arthritis (RA) treatments, including TNFa inhibitors (TNFi) and JAK inhibitors (JAKi), have transformed the management of RA by controlling symptoms and slowing…
Abstract Number: 0885 • ACR Convergence 2024
Reproducible Single Cell Annotation of Programs Underlying T-cell Subsets, Activation States, and Functions
Dylan Kotliar¹, Michelle Curtis¹, Ryan Agnew¹, Kathryn Weinand¹, Aparna Nathan², Yuriy Baglaenko¹, Yu Zhao¹, Pardis Sabeti³, Deepak Rao⁴ and Soumya Raychaudhuri¹, ¹Brigham and Women's Hospital, Boston, MA, ²Harvard Medical School, Boston, MA, ³Broad Institute, Boston, MA, ⁴Brigham and Women's Hospital, Harvard Medical School, Boston, MA

Background/Purpose: T-cells play a key role in the pathogenesis of autoimmune disease and in protection against cancer and infection. Consequently, there is widespread interest in…
Abstract Number: 0965 • ACR Convergence 2024
Scleroderma Associated Interstitial Lung Disease Is Characterized by Aberrant Lung Epithelial Remodeling
Monica Yang¹, Fred Deiter², Emily Flynn², Seoyeon Lee³, Jessica Neely¹, John Greenland², Marina Sirota² and Paul Wolters², ¹UCSF, San Francisco, CA, ²UCSF, SF, ³Yale, New Haven
Background/Purpose: Interstitial lung disease (ILD) is present in a majority of systemic sclerosis (SSc) patients and the leading cause of SSc-related mortality. A subset of…
Abstract Number: 2516 • ACR Convergence 2024
Exome-Wide Rare Variant Association Study of Takayasu’s Arteritis
Yiming Luo¹, Zuoming deng², Kaitlin Quinn³, Keith Sikora⁴, Daniel Kastner⁵, Krzysztof Kiryluk¹, Amr Sawalha⁶, Peter Merkel⁷ and Peter Grayson⁸, and the Vasculitis Clinical Research Consortium, ¹Columbia University Irving Medical Center, New York, NY, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁴National Institutes of Health, Bethesda, MD, ⁵National Human Genome Research Institute, Bethesda, MD, Bethesda, MD, ⁶University of Pittsburgh, Pittsburgh, ⁷University of Pennsylvania, Philadelphia, PA, ⁸National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Chevy Chase, MD
Background/Purpose: Takayasu’s arteritis (TAK) is a rare inflammatory disease primarily involving the aorta and its major branches. Multiple genetic association studies on common variants in…
Abstract Number: 0887 • ACR Convergence 2024
Identification of Rare Variants in Lupus-causing Genes in a Mixed Paediatric and Adult Connective Tissue Disease Cohort
Anastasia-Vasiliki Madenidou¹, Gillian Rice², Terence Garner³, Sarah Dyball⁴, Alice Chieng⁵, Ben Parker⁶, Tracy Briggs⁷, Adam Stevens³ and Ian Bruce⁸, ¹Centre for Musculoskeletal Research, The University of Manchester, Manchester, United Kingdom, ²Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom, Manchester, ³Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester and Manchester Academic Health Science Centre, Manchester, United Kingdom, Manchester, United Kingdom, ⁴Centre for Musculoskeletal Research, The University of Manchester, Manchester, UK, Manchester, United Kingdom, ⁵Department of Rheumatology, Royal Manchester Children's Hospital, Manchester, United Kingdom, Manchester, United Kingdom, ⁶Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom, ⁷Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom, Manchester, United Kingdom, ⁸Centre for Musculoskeletal Research, Division of Musculoskeletal and Dermatological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom
Background/Purpose: Connective tissue diseases (CTDs) are a family of heterogeneous autoimmune diseases with overlapping clinical features. Not all patients with features suggestive of a mendelian…
Abstract Number: 1354 • ACR Convergence 2024
The Association of Genetic Variation in PTPN22 and Rheumatoid Arthritis Disease Activity
Thomas Riley¹, Austin Wheeler², Bryant England², grant Cannon³, Sauer brian⁴, Gary Kunkel⁵, Katherine Wysham⁶, Beth Wallace⁷, Rachel Elam⁸, Paul Monach⁹, Andreas Reimold¹⁰, Gail Kerr¹¹, Isaac Smith¹², John Richards¹³, Iris Lee¹⁴, Rui Xiao¹⁵, Scott Damrauer¹⁵, Michael George¹⁵, Ted Mikuls² and Joshua Baker¹⁵, ¹Hopsital of the University of Pennsylvania, Philadelphia, PA, ²University of Nebraska Medical Center, Omaha, NE, ³University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁴Salt Lake City VA/University of Utah, Salt Lake City, UT, ⁵University of Utah and George E Wahlen VAMC, Salt Lake City, UT, ⁶VA PUGET SOUND/UNIVERSITY OF WASHINGTON, Seattle, WA, ⁷Michigan Medicine, VA Ann Arbor Healthcare System, Ann Arbor, MI, ⁸Augusta University, Evans, GA, ⁹VA Boston Healthcare System, Boston, MA, ¹⁰Dallas VA Medical Center, Dallas, TX, ¹¹Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, ¹²Duke University Hospital, Durham, NC, ¹³Veterans Affairs Pittsburgh Healthcare System, Pittsburgh, PA, ¹⁴Washington University in St Louis, Saint Louis, MO, ¹⁵University of Pennsylvania, Philadelphia, PA
Background/Purpose: PTPN22 R620W is a common genetic variation that is a known risk factor for the development of autoimmune disease, including rheumatoid arthritis (RA). This…
Abstract Number: 2629 • ACR Convergence 2024
Deciphering Salivary Gland Inflammation in Sjögren’s Syndrome Reveals Shared and Autoantibody-Specific Immune Cell Heterogeneity
Jun Inamo¹, Masaru Takeshita², Katsuya Suzuki², Kazuyuki Tsunoda², Satoshi Usuda², Junko Kuramoto², Tsutomu Takeuchi³ and Yuko Kaneko⁴, ¹University of Colorado School of Medicine, Aurora, CO, ²Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan, ³Department of Internal Medicine, Keio University, Tokyo, Tokyo, Japan, ⁴Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Tokyo, JP, Shinjuku-ku, Tokyo, Japan
Background/Purpose: Sjögren's syndrome (SS) is an autoimmune disease characterized by progressive immune cell-mediated destruction of the exocrine glands. SS patients have distinct clinical phenotypes based…
Abstract Number: 0888 • ACR Convergence 2024
Genetically Determined Peptidylglycine Alpha-amidating Monooxygenase (PAM) Mediated Amidation Regulates Tissue Damage by Rheumatoid Arthritis Synovial Fibroblasts
Kevin Sheridan¹, Emma Doris¹, Maria Pimenta¹, Jemma Falkov¹, Matthew Fisher², Munitta Muthana², Denis Shields¹, Richard Mains³, Betty Eipper³, Christopher Buckley⁴ and Anthony Wilson⁵, ¹University College Dublin, Dublin, Ireland, ²University of Sheffield, Sheffield, United Kingdom, ³University of Connecticut, Connecticut, ⁴University of Oxford, Oxford, United Kingdom, ⁵UCD, Dublin, Dublin, Ireland
Background/Purpose: The SNP rs26232 is associated with both risk and severity of rheumatoid arthritis (RA), with the C allele associated with the susceptibility to RA,…
Abstract Number: 1761 • ACR Convergence 2024
Juvenile Idiopathic Arthritis Genetic Risk Haplotypes: Relevance to Children of African Ancestry
Sabrina George¹, Hannah C Ainsworth², Kaiyu Jiang³, Gilad Barshad⁴, Adam He⁴, Edward Rice⁴, Carl D Langerfeld², Charles G Danko⁴ and James N Jarvis³, ¹University at Buffalo Jacobs School of Medicine, Buffalo, NY, ²Wake Forest University, Winston-Salem, NC, ³University of Washington School of Medicine, Seattle, WA, ⁴Cornell University Baker School of Veterinary Medicine, Ithaca, NY
Background/Purpose: - Numerous juvenile idiopathic arthritis (JIA) risk loci have been identified, overwhelmingly from cohorts of children of European ancestry (EA). The extent to which…
Abstract Number: 2634 • ACR Convergence 2024
Transcriptomic Stratification Predicts Response to Rituximab, Abatacept or the Association of Hydroxychloroquine and Leflunomide in 3 Randomized Controlled Clinical Trials in Sjögren’s Disease
Baptiste Chevet¹, Valerie Devauchelle², Elena Pontarini³, Valentin Baloche⁴, Michele Bombardieri⁵, Simon Bowman⁶, Michael Barnes⁷, Antoine Sreih⁸, Jinqi Liu⁸, Sheila Kelly⁹, Antonia Christodoulou⁸, Hussain Badani¹⁰, Philippe Moigeon¹¹, Laurence LAIGLE¹², Perrine Soret¹³, Christelle Le dantec¹⁴, Jacques-Olivier Pers¹⁵, Marta Alarcon-Riquelme¹⁶, Guillermo Barturen¹⁷, Xavier Mariette¹⁸, Joel Van Roon¹⁹, Raphaele Seror²⁰, Gaetane Nocturne¹⁸, Divi Cornec²¹ and Nathan Foulquier¹⁴, and PRECSEADS Clinical Consortium and NECESSITY consortium, ¹University Hospital of Brest, Brest, France, ²UBO, Brest, France, ³William Harvey Research Institute, London, United Kingdom, ⁴University Medical Center, Utrecht, Utrecht, Netherlands, ⁵Centre for Experimental Medicine and Rheumatology, The William Harvey Research Institute, Queen Mary University of London, London, United Kingdom, ⁶Department of Rheumatology, University Hospital Birmingham, Birmingham, United Kingdom, ⁷William Harvey Research institute, Centre for Translational Bioinformatics, London, United Kingdom, ⁸Bristol Myers Squibb, Princeton, NJ, ⁹Bristol Myers Squibb, Doylestown, PA, ¹⁰Bristol Myers Squibb, Lawrence Township, NJ, ¹¹Servier Laboratories, France, Gif sur Yvette, France, ¹²Servier Laboratories, France, SURESNES, France, ¹³Servier, Paris-Saclay, Paris, Ile-de-France, France, ¹⁴LBAI. UMR 1227, University of Brest, Brest, France, ¹⁵University of Brest, Brest, France, ¹⁶Fundación Progreso y Salud, Andalusian Government, Granada, Spain, ¹⁷Center for Genomics and Oncological Research (GENYO), Andalusia, Spain, ¹⁸Service de Rhumatologie, Hôpital Bicêtre, AP-HP, Le Kremlin Bicetre, France, ¹⁹University Medical Center Utrecht, Utrecht, Netherlands, ²⁰Service de Rhumatologie, Hôpital Bicêtre, AP-HP, le Kremlin Bicetre, Ile-de-France, France, ²¹Service de Rhumatologie, CHU de Brest, Brest, France
Background/Purpose: Sjögren’s disease (SjD) is a clinically and biologically heterogeneous disease. To date, no phase-III trial showed efficacy in reducing the symptoms or systemic activity…

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