Abstracts tagged "genomics"

Abstract Number: 1227 • ACR Convergence 2025
The Composition of Circulating Immune Cells is Associated with Nociplastic Pain in Patients with Rheumatoid Arthritis
Tyler Therron¹, Meghan Mayer², Cecilia Stumpf³, Gelis Galarcé Lugo⁴, Morgan Langereis⁵, Kathleen Aren⁶, Mary Carns⁵, Cally Mills⁵, Cheol Min Lee⁷, Vanessa Manada De Lobos², Carla Marie Cuda⁵, Yvonne Lee⁵ and Deborah Rachelle Winter⁸, ¹Northwestern Feinberg School of Medicine, Chicago, IL, ²Northwestern University, Chicago, ³Northwestern University, Elmhurst, IL, ⁴Northwestern University Feinberg School of Medicine, Zionsville, IN, ⁵Northwestern University, Chicago, IL, ⁶Northwestern University Division of Rheumatology, Chicago, IL, ⁷Northwestern University Feinberg School of Medicine, Chicago, IL, ⁸Northwestern University, Skokie, IL
Background/Purpose: Over half of patients with RA report clinically meaningful pain, despite treatment with disease-modifying antirheumatic drugs (DMARDs). While joint inflammation is a known cause…
Abstract Number: 0028 • ACR Convergence 2025
Computational and Laboratory Identification of Risk-Driving Alleles on Juvenile Idiopathic Arthritis (JIA)-Associated Haplotypes
Adam He¹, Hannah Ainsworth², Kaiyu Jiang³, Ekaterina Khtovatkova², Yanmin Chen³, Carl Langefeld⁴, Charles G Danko¹ and James N. Jarvis⁵, ¹Cornell University Baker School of Veterinary Medicine, Ithaca, NY, ²Wake Forest University, Winston-Salem, NC, ³University of Washington School of Medicine, Seattle, WA, ⁴Wake Forest University School of Medicine, Winston Salem, NC, ⁵University of Washington Center for Indigenous Health, Seattle, WA
Background/Purpose: Multiple genomic regions are known to confer risk for JIA. However, identifying the SNPs that exert the biological effects that confer risk, and therefore…
Abstract Number: 2046 • ACR Convergence 2025
Utilization of the All of Us Research Program to Study the Impact of Genetic Background on Autoinflammatory Diseases
Song Wu¹, Zuoming Deng², Peter Gorevic¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
Background/Purpose: A widely recognized model of disease pathogenesis is the potential interplay of gene x gene x environment. Low penetrance variants in the NOD-like receptor…
Abstract Number: 1056 • ACR Convergence 2025
High diagnostic rate of genetic testing in adult patients with autoinflammation: A Single Center Experience
Atif Towheed¹, Joshua Owens², Ann Parody¹ and Daniella Schwartz³, ¹University of Pittsburgh Medical Centre, Pittsburgh, ²UPMC Children’s Hospital of Pittsburgh, Pittsburgh, ³University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Inborn errors of immunity (IEI), including autoinflammatory diseases and primary immune regulation disease (PIRD), are unfamiliar to many adult rheumatologists, leading to potential ascertainment…
Abstract Number: 0025 • ACR Convergence 2025
Expansion and Transcriptional Reprogramming of CD14⁺ and CD16⁺ Monocytes in Behçet’s Disease
Elio Carmona¹, Rabia Deniz², Cemal Bes³, Haner Direskeneli⁴, Ahmet Gul⁵ and Amr Sawalha⁶, ¹Division of Pediatric Rheumatology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA, Pittsburgh, ²University of Health Sciences Basaksehir Çam and Sakura City Hospital, Istanbul, Turkey, ³University of Health Sciences, Basaksehir Çam and Sakura City Hospital, Istanbul, Turkey, ⁴Marmara University, ISTANBUL, Turkey, ⁵Istanbul University, Istanbul, Turkey, ⁶University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Behçet’s disease (BD) is a chronic, relapsing inflammatory disease characterized by complex immunopathogenesis and limited treatment options. Monocytes are known to play a significant…
Abstract Number: 1844 • ACR Convergence 2025
Disease-Associated Macrophages Express an Injury-Associated Gene Program and Localize to Distinct Compartments in Proliferative and Mixed Histologic Classes of Lupus Nephritis
Paul Hoover¹, Rollin Leavitt², Jill Buyon³, Jennifer Anolik⁴, Jennifer Barnas⁵, Judith James⁶, Joel Guthridge⁶, Michelle Petri⁷, Betty Diamond⁸, Soumya Raychaudhuri¹, Nir Hacohen⁹, Anne Davidson¹⁰ and Arnon Arazi¹¹, ¹Brigham and Women's Hospital, Boston, MA, ²Broad Institute, Boston, MA, ³NYU Grossman School of Medicine, New York, NY, ⁴University of Rochester Medical Center, Rochester, NY, ⁵University of Rochester, Rochester, NY, ⁶Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁷Johns Hopkins University School of Medicine, Timonium, MD, ⁸The Feinstein Institutes for Medical Research, Manhasset, NY, ⁹Broad Institute, Cambridge, MA, ¹⁰Feinstein Institutes for Medical Research, Manhasset, NY, ¹¹The Feinstein Institutes for Medical Research, Manhasset
Background/Purpose: In collaboration with the AMP-RA/SLE network, we identified disease-associated macrophages (D-Macs) in kidney biopsies from 155 patients with active lupus nephritis (LN) and 30…
Abstract Number: 0970 • ACR Convergence 2025
Genomic instability in systemic sclerosis is promoted by metabolic remodelling via a FOXO1-dependent axis
Lamia Khan¹, Junqin Wang², Aishwarya Iyer², Desiree Redmond², Dylan Hennessey², Sandra O'Keefe², Jan Storek³, Charmaine van Eeden², Robert Gniadecki² and Mohammed Osman¹, ¹University of Alberta, Edmonton, AB, Canada, ²Department of Medicine, University of Alberta, Edmonton, AB, Canada, ³University of Calgary, Calgary, AB, Canada
Background/Purpose: Systemic sclerosis (SSc) is a life-threatening autoimmune disease with limited treatment options, including autologous hematopoietic stem cell transplantation (AHSCT). We recently showed that dermal…
Abstract Number: 0022 • ACR Convergence 2025
Genome-wide association study identifies novel genetic risk factors for rheumatoid arthritis-associated interstitial lung disease
Austin Wheeler¹, Thomas Riley², Riku Takei³, Joshua Baker², Yangyuna Yang¹, Punyasha Roul⁴, Katherine Wysham⁵, Grant Cannon⁶, Gary Kunkel⁷, Gail Kerr⁸, Dana Ascherman⁹, Paul Monach¹⁰, Andreas Reimold¹¹, Jill Poole¹, Ted Mikuls¹, Tony Merriman¹² and Bryant England¹, ¹University of Nebraska Medical Center, Omaha, NE, ²University of Pennsylvania, Philadelphia, PA, ³University of Alabama at Birmingham, Birmingham, AL, ⁴UNMC, Omaha, NE, ⁵VA PUGET SOUND/UNIVERSITY OF WASHINGTON, Seattle, WA, ⁶University of Utah and Salt Lake City VA, Salt Lake City, UT, ⁷University of Utah and George E Wahlen VAMC, Salt Lake City, UT, ⁸Washington DC VAMC/Georgetown and Howard Universities, Washington, DC, ⁹University of Pittsburgh, Pittsburgh, PA, ¹⁰VA Boston Healthcare System, Boston, MA, ¹¹Dallas VA Medical Center, Dallas, TX, ¹²University of Alabama at Birmingham, Homewood, AL
Background/Purpose: Interstitial lung disease (ILD) is clinically present in ~10% of individuals with RA. There is recognized overlap between RA-ILD and idiopathic pulmonary fibrosis (IPF)…
Abstract Number: 1839 • ACR Convergence 2025
Transcriptional Profiling of Whole Blood and Kidney Biopsy Samples from Lupus Nephritis and IgA Nephropathy Patients Suggests Different Disease Pathways
Christopher Sisk¹, Loqmane Seridi², Alan Perlman³, Matthew Loza², Sheng Gao², Thomas Parker⁴, Daniel Levine⁴, Thangamani Muthukumar⁵, Yonatan Bardash⁶, Benjamin Horowitz⁷, Surya Seshan⁵ and James Chevalier³, ¹Johnson & Johnson, San Diego, CA, USA, San Diego, CA, CA, ²Johnson & Johnson, Spring House, PA, ³The Rogosin Institute, New York, NY, ⁴The Rogosin Institute, Weill Cornell Medical College, New York, NY, ⁵Weill Cornell Medical College, New York, NY, ⁶Hackensack Meridian Health, Hackensack, NJ, ⁷Columbia University Medical Center, New York, NY
Background/Purpose: Lupus nephritis (LN) is a severe complication of systemic lupus erythematosus (SLE), associated with significant morbidity and mortality. IgA nephropathy (IgAN) is the most…
Abstract Number: 0893 • ACR Convergence 2025
Transcriptomic insights into GCA compared to clinically diverse controls: Inflammation, Aging, Therapeutic Targets and the role of SPP1 in the temporal artery
Ingrid Lindquist¹, Alisha Eskew², Dongsoek Choi³, David Wilson⁴, Diva Salomao⁵, Hillary Stiefel⁴, Daniel Albert⁴, Kiana Vakil-Gilani⁶, Daniela Ghetie⁷, James Rosenbaum⁸ and Marcia Friedman⁹, ¹Portland VA Medical Center, Portland, OR, ²OHSU, Portland, OR, ³OHSU, Portland, ⁴Casey Eye Institute OHSU, Portland, OR, ⁵Mayo Clinic, Rochester, MN, ⁶PeaceHealth, Portland, OR, ⁷OHSU, Lake Oswego, OR, ⁸Legacy Devers Eye Institute, Portland, OR, ⁹Immpact Bio, Beaverton, OR
Background/Purpose: Giant cell arteritis (GCA) is the most common vasculitis in people over 50 years old and is a clinical diagnosis bolstered by non-specific inflammatory…
Abstract Number: 0021 • ACR Convergence 2025
DoCTIS: A Single Cell RNA-Seq Atlas of Drug Response To Targeted Therapies
Antonio Julià¹, Yolanda Guillén², Paloma Vela Casasempere³, Antonio Fernández Nebro⁴, Carlos Marras⁵, Santos Castañeda⁶, Jaime Calvo Alén⁷, Jesús Tornero Molina⁸, Juan Cañete⁹, Eugeni Domènech¹⁰, Javier Gisbert¹¹, Jose M. Carrascosa¹², Eduardo Fonseca¹³, Luis Bujanda Fernández De pierola¹⁴, Valle García Sánchez¹⁵, Britta Siegmund¹⁶, Giampiero Girolomoni¹⁷, Holger Heyn¹⁸, Laura Jiménez Gracia¹⁸, Pere Santamaria¹⁹, Edgar Angelats²⁰, Richard Myers²¹, Sergio H. Martínez Mateu², Juan Ángel Patiño Galindo², Ernest Choy²² and Sara Marsal¹, ¹Vall d'Hebron Hospital Research Institute, Rheumatology Research Group, Barcelona, Spain, ²IMIDomics, Barcelona, Spain, ³Hospital General Universitario de Alicante, Rheumatology, Alicante, Spain, ⁴Hospital Regional Universitario Carlos Haya, Rheumatology, Málaga, Spain, ⁵Hospital Universitario Virgen de la Arrixaca, Rheumatology, Murcia, Spain, ⁶Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ⁷Hospital Universitario de Araba, Rheumatology, Vitoria, Spain, ⁸Hospital Universitario de Guadalajara, Rheumatology, Guadalajara, Spain, ⁹Rheumatology Department, Hospital Clínic and IDIBAPS, Barcelona, Spain, Barcelona, Spain, ¹⁰Hospital Universitari Germans Trias i Pujol, Gastroenterology, Badalona, Spain, ¹¹Hospital Universitario La Princesa, Rheumatology, Madrid, Spain, ¹²Hospital Universitari Germans Trias i Pujol, Dermatology, Badalona, Spain, ¹³Complejo Hospitalario Universitario de A Coruña, Dermatology, A Coruña, Spain, ¹⁴Hospital Universitario de Donostia, Gastroenterology, San Sebastián, Spain, ¹⁵Hospital Universitario Reina Sofía, Gastroenterology, Córdoba, Spain, ¹⁶Charité-Universitätsmedizin Berlin, Gastroenterology, Berlin, Germany, ¹⁷University of Verona, Dermatology, Verona, Spain, ¹⁸Centre for Genomic Regulation (CNAG-CRG), Barcelona, Spain, ¹⁹Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelonoa, Spain, ²⁰Hospital Clínic-IDIBAPS, Barcelona, Spain, ²¹HudsonAlpha Institute for Biotechnology, Huntsville, AL, ²²Division of Infection and Immunity, CREATE Centre, Cardiff University, Cardiff, United Kingdom
Background/Purpose: Targeted therapies have revolutionized the management of immune-mediated inflammatory diseases (IMIDs), however, there is a substantial number of patients who respond poorly to a…
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…

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, 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 of editorial news coverage) is under media embargo until 10:00 AM CT on October 25. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].