Abstracts tagged "genomics"

Abstract Number: 1589 • ACR Convergence 2023
Epigenetic Regulation of DNMT3A by TFEB and DOT1L Through AMPK Signalling Orchestrates the Lysosomal Response of Macrophages During Gout and Clonal Hematopoiesis
Isidoro Cobo¹, Jessica Murillo-Saich², Mohnish Alishala¹, Stephen Calderon¹, Roxana Coras³, Nathanael Spann¹, Anyan Cheng⁴, Thomas Prohaska¹, Babak Razani⁵, Robert Terkeltaub¹, Benjamin Ebert⁶, Ru Liu Bryan⁷, Monica Guma⁸ and Christopher glass¹, ¹University of California San Diego, San Diego, CA, ²Department of Medicine, University of California San Diego, La Jolla, CA, ³Cedars-Sinai Medical Center, Los Angeles, CA, ⁴University of California San Diego, San Francisco, CA, ⁵Universit of Pittsburgh, Pittsburgh, PA, ⁶Dana-Farber Cancer Institute, Boston, MA, ⁷UCSD and VASDHS, San Diego, CA, ⁸San Diego VA Healthcare Service, La Jolla, CA
Background/Purpose: Gout is the most common form of inflammatory arthritis worldwide, which is characterised by the deposition of monosodium urate crystals (MSUc) in the joints…
Abstract Number: 0036 • ACR Convergence 2023
Using Genotyping and Chromatin Data in CD4+ T Cells to Nominate Causal Variants on JIA Risk Haplotypes and to Identify Their Target Genes
Emma Haley¹, gilad Barshad², Kaiyu Jiang³, Adam He², Edward J Rice⁴, Marc Sudman⁵, Susan Thompson⁶, Elizabeth Crinzi¹, Charles G Danko⁴ and James N Jarvis⁷, ¹Jacobs School of Medicine and Biomedical Sciences, Buffalo, NY, ²Cornell University, Ithaca, NY, ³University at Buffalo, Buffalo, NY, ⁴Baker Institute of Animal Health Cornell University, Ithaca, NY, ⁵Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁶Cincinnati Children's Hospital Medical Center/University of Cincinnati College of Medicine, Blue Ash, OH, ⁷University at Buffalo Jacobs School of Medicine, Buffalo, NY
Background/Purpose: GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA).However, identifying the single nucleotide polymorphisms (SNPs) that drive risk has…
Abstract Number: 1600 • ACR Convergence 2023
Transcriptomic Characterization of Class II Lupus Nephritis and Outcomes
Jasmine Shwetar¹, Katie Preisinger¹, Devyn Zaminski², Philip Carlucci¹, Kristina Deonaraine¹, Qian Xiao³, Joseph Mears⁴, Siddarth Gurajala³, Izmirly peter⁵, Judith James⁶, Joel Guthridge⁶, Andrea Fava⁷, Brad Rovin⁸, Wade DeJager⁶, Ming Wu⁹, Deepak Rao¹⁰, Chaim Putterman¹¹, Betty Diamond¹², Derek Fine¹³, Jose Monroy-Trujillo¹³, Kristin Haag¹⁴, H Michael Belmont², William Apruzzese¹⁰, Anne Davidson¹², Fernanda Payan-Schober¹⁵, Richard Furie¹⁶, Paul Hoover¹⁰, Celine Berthier¹⁷, Maria Dall'Era¹⁸, Kerry Cho¹⁹, Diane L. Kamen²⁰, Kenneth Kalunian²¹, Jennifer Anolik²², Soumya Raychaudhuri¹⁰, Nir Hacohen²³, Michelle Petri²⁴, Robert Clancy²⁵, David Wofsy¹⁸, Arnon Arazi²⁶, Kelly Ruggles⁹, Jill Buyon²⁵ and The Accelerating Medicines Partnership SLE/RA²⁷, ¹New York University School of Medicine, New York, NY, ²NYU School of Medicine, New York, NY, ³Harvard Medical School, Boston, MA, ⁴Michigan University, Ann Arbor, MI, ⁵NYU, New York, NY, ⁶Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁷Johns Hopkins University, Baltimore, MD, ⁸Ohio State University, Columbus, OH, ⁹NYU Langone, New York, NY, ¹⁰Brigham and Women's Hospital, Boston, MA, ¹¹Albert Einstein College of Medicine, Bronx, NY, ¹²Feinstein Institutes for Medical Research, Manhasset, NY, ¹³Johns Hopkins School of Medicine, Baltimore, MD, ¹⁴Thomas Jefferson University, Philadelphia, PA, ¹⁵Texas Tech University Health Sciences Center, El Paso, TX, ¹⁶Northwell Health, Manhasset, NY, ¹⁷University of Michigan, Ann Arbor, MI, ¹⁸University of California San Francisco, San Francisco, CA, ¹⁹UCSF Health, San Francisco, CA, ²⁰Medical University of South Carolina, Charleston, SC, ²¹University of California San Diego, La Jolla, CA, ²²University of Rochester Medical Center, Rochester, NY, ²³Broad Institute of MIT and Harvard, Cambridge, MA, ²⁴Department of Medicine, Division of Rheumatology, Johns Hopkins University School of Medicine, Timonium, MD, ²⁵NYU Grossman School of Medicine, New York, NY, ²⁶Broad Institute of MIT and Harvard, Melrose, MA, ²⁷University of Colorado Anschutz Medical Campus, Aurora, CO
Background/Purpose: Lupus Nephritis (LN) significantly reduces the survival and life expectancy of patients with SLE. Given this, considerable effort has gone into characterizing the histologic…
Abstract Number: 0037 • ACR Convergence 2023
New Histological Approach in Spatial Transcriptomics Implicates Glandular Cell Involvement in Pathophysiology of Sjögren’s Disease
Paulina Czarnota¹, Rick Wilbrink², Bhuwan Khatri¹, Anna Stolarczyk¹, Cherilyn Pritchett Frazee¹, Chuang Li¹, Caleb Marlin¹, Kyle Wright³, Kandice Tessneer¹, Lida Radfar⁴, Judith James¹, Robert Scofield¹, Indra Adrianto⁵, Astrid Rasmussen¹, Joel Guthridge¹, A. Darise Farris¹ and Christopher Lessard¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University Medical Center Groningen, Groningen, Netherlands, ³University of Oklahoma Health Sciences Center, Oklahoma City, OK, ⁴University of Oklahoma College of Dentistry, Oklahoma City, OK, ⁵Henry Ford Health, Detroit, MI
Background/Purpose: 10X Visium spatial transcriptomics evaluates gene expression in a 50μm tile coordinate of a sectioned tissue, yielding heterogeneous cell sampling. Spatial PCA algorithm was…
Abstract Number: 1660 • ACR Convergence 2023
Still’s Disease Patients with High Interferon-stimulated Gene Expression Have Enrichment of Rare, de Novo and Recessive Protein Altering Variants in Innate Immune Pathways
Mariana Correia Marques¹, Zuoming Deng², Navid Chowdhury², Elizabeth Schmitz³, Alana Platukus⁴, Stephen Brooks⁵, Carol Lake², Ly-Lan Bergeron², Michelle Millwood² and Michael Ombrello⁶, ¹National Institute of Arthritis & Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), St. Louis, MO, ⁴National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Philadelphia, PA, ⁵Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skins Diseases, National Institutes of Health, Bethesda, MD, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD
Background/Purpose: Still’s disease (systemic juvenile idiopathic arthritis in children, adult-onset Still’s disease in adults) is an enigmatic inflammatory condition that affects people of all ages.…
Abstract Number: 0039 • ACR Convergence 2023
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis
Mariana Correia Marques¹, Danielle Rubin¹, Emily Shuldiner², Mallika Datta¹, Elizabeth Schmitz¹, Alexei Grom³, Dirk Foell⁴, Marco Gattorno⁵, John Bohnsack⁶, Rae Yeung⁷, Sampath Prahalad⁸, Elizabeth Mellins⁹, Jordi Anton Lopez¹⁰, Claudio Len¹¹, Sheila Oliveira¹², Patricia Woo¹³, Seza Ozen¹⁴, INCHARGE Consortium¹, Zuoming Deng¹⁵ and Michael Ombrello¹, ¹National Institute of Arthritis & Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Department of Biology, Stanford University, Stanford, CA, ³Division of Rheumatology, Cincinnati Children`s Hospital, Cincinnati, OH, ⁴University Hospital Münster, Münster, Germany, ⁵UOC Reumatologia e Malattie Autoinfiammatorie, Genoa, Italy, ⁶University of Utah, Salt Lake City, UT, ⁷The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁸Emory University School of Medicine, Children's Pediatric Institute, Atlanta, GA, ⁹Stanford University, Stanford, CA, ¹⁰Pediatric Rheumatology Department, Hospital Sant Joan e Deu, Barcelona University, Barcelona, Spain, ¹¹São Paulo Federal University, São Paulo, Brazil, ¹²Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹³University College London, London, United Kingdom, ¹⁴Hacettepe University Medical Faculty, Ankara, Turkey, ¹⁵National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a complex inflammatory condition of childhood. It can be complicated by macrophage activation syndrome (MAS), a secondary form…
Abstract Number: 1694 • ACR Convergence 2023
Transcriptomic Analysis of the Impact of Iberdomide on Patients with SLE
Prathyusha Bachali¹, Shimon Korish², Yanhua Hu³, Peter Schafer⁴, Amrie Grammer¹ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²Bristol Myers Squibb, Summit, NJ, ³Bristol Myers Squibb, Princeton, NJ, ⁴Bristol Myers Squibb, Belle Mead, NJ
Background/Purpose: Iberdomide is a high affinity cereblon ligand that promotes ubiquitylation and proteasomal degradation of Ikaros (IKZF1) and Aiolos (IKZF3) transcription factors and, thereby altering…
Abstract Number: 0063 • ACR Convergence 2023
Investigating Macrophage Repopulation in the Synovium
Jessica Maciuch¹, Yidan Wang², Slim Fourati¹, Harris Perlman¹ and Deborah Winter³, ¹Northwestern University, Chicago, IL, ²Northwestern University, Hanover Park, IL, ³Northwestern University, Skokie, IL
Background/Purpose: Rheumatoid Arthritis (RA) is an autoimmune disease characterized by chronic inflammation of the joints. Macrophages are a key mediator of pro-inflammatory signaling, contributing to…
Abstract Number: 1712 • ACR Convergence 2023
Identification and Functional Characterization of Eight CANDLE/PRAAS Causing Proteasome Variants in Five Unrelated Patients
Adriana Almeida de Jesus¹, Jonas J. Papendorf², Frederic Ebstein³, Sara Alehashemi⁴, Daniela Pioto⁵, Anna Kozlova⁶, Maria Teresa TErreri⁷, Anna Shcherbina⁶, Andre Rastegar⁸, Marta Rodrigues⁹, Renan Pereira¹⁰, Sophia Park¹¹, Bin Lin¹², Kat Uss¹¹, Ana Flavia da Silva Pina⁵, FLAVIO SZTAJNBOK¹³, Sofia Torreggiani¹⁴, Jennifer Stoddard¹⁵, Julie Niemela¹⁵, Sergio Rosenzweig¹⁵, Adriana Fonseca¹⁶, Marietta De Guzman¹⁷, Nicole Micheloni⁵, Melissa Fraga⁵, Sandro Perazzio¹⁸, Raphaela Goldbach-Mansky¹⁹ and Elke Krueger², ¹NIAID, NIH, Bethesda, MD, ²Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany, ³Nantes Université, Nantes, France, ⁴NIH/NIAID/TADS, Clarksville, MD, ⁵Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil, ⁶Center for Pediatric Hematology, Oncology, Immunology, Moscow, Russia, ⁷UNIFESP, São Paulo, Brazil, ⁸NIH, Bethesda, MD, ⁹Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil, ¹⁰Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil, ¹¹Translational Autoinflammatory Diseases Section, LCIM, NIAID, NIH, Bethesda, MD, ¹²Translational Autoinflammatory Diseases Section l LCIM, NIAID, NIH, Bethesda, MD, ¹³UFRJ/UERJ, São Paulo, Brazil, ¹⁴University of Maryland Baltimore, Baltimore, MD, ¹⁵Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, MD, ¹⁶Instituto de Puericultura e Pediatria Martagao Gesteira / Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁷Baylor College of Medicine, Houston, TX, ¹⁸Universidade de Sao Paulo (Unifesp); Universidade de São Paulo (USP); Fleury Laboratories, São Paulo, Brazil, ¹⁹NIH/NIAID, Potomac, MD
Background/Purpose: Mutations in genes coding for 20S proteasome subunits or proteasome assembly helpers cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures (CANDLE) or…
Abstract Number: 0278 • ACR Convergence 2023
NOD2 Genotyping Landscape in Yao Syndrome
Hafsa Nomani¹, Ashmia Saif², Frank Hwang¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Stony Brook University Hospital, Syosset, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. This study…
Abstract Number: 1722 • ACR Convergence 2023
Fate-mapping of Synovial Monocytes and Macrophages
Yidan Wang¹, Carla Cuda¹, Deborah Winter² and Harris Perlman¹, ¹Northwestern University, Chicago, IL, ²Northwestern University, Skokie, IL
Background/Purpose: Synovial monocytes and macrophages are heterogenous populations. These populations play diverse roles in the development of arthritis in humans and mice. In recent years,…
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: 0518 • ACR Convergence 2022
Changes in Skin Fibroblast Polarization Gene Expression Herald Clinical Improvement in Early, Diffuse Cutaneous Systemic Sclerosis
Kimberly Showalter Lakin¹, Deanna Jannat-Khah, DrPH, MSPH¹, Yajas Shah², Olivier Elemento², Aliza Bloostein¹, Jessica Gordon¹, Michael Whitfield³, Barbara White⁴, Dana Orange⁵ and Robert Spiera¹, ¹Hospital for Special Surgery, New York, NY, ²Weill Cornell Medicine, New York, NY, ³Dartmouth Geisel School of Medicine, Department of Biomedical Data Science, Lebanon, NH, ⁴Corbus Pharmaceuticals, Pleasanton, CA, ⁵The Rockefeller University, New York, NY
Background/Purpose: We previously identified a group of genes associated with high alpha-smooth muscle actin (aSMA) and low CD34 fibroblast staining in lesional systemic sclerosis (SSc)…
Abstract Number: 1539 • ACR Convergence 2022
Gene Expression Meta-Analysis Reveals Aging and Cellular Senescence Signatures in Scleroderma-associated Interstitial Lung Disease
Monica Yang¹, Seoyeon Lee², Jessica Neely³, Marina Sirota² and Paul Wolters², ¹UCSF, SF, CA, ²UCSF, SF, ³UCSF Benioff Children's Hospital, San Francisco, CA
Background/Purpose: Systemic Sclerosis (SSc) is an autoimmune disease characterized by diffuse fibrosis and vasculopathy that has potential to affect nearly every organ system. Interstitial lung…
Abstract Number: 0562 • ACR Convergence 2022
Large-Scale Targeted Sequencing Study Links Systemic Juvenile Idiopathic Arthritis with Rare Variants of MEFV, LYST, STXBP2, UNC13D
Mariana Correia Marques¹, Danielle Rubin², Emily Shuldiner², Elizabeth Schmitz², Elizabeth Baskin², Andrew Patt³, Alexei Grom⁴, Dirk Foell⁵, Marco Gattorno⁶, John Bohnsack⁷, Rae Yeung⁸, Sampath Prahalad⁹, Elizabeth Mellins¹⁰, Jordi Antón¹¹, Claudio Len¹², Sheila Oliveira¹³, Patricia Woo¹⁴, Seza Ozen¹⁵, INCHARGE Consortium¹⁶ and Michael Ombrello¹⁷, ¹National Institute of Arthritis and Musculoskeletal and Skin Diseases / Children`s National Hospital, Bethesda, MD, ²National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ³National Center for Advancing Translational Sciences, Bethesda, MD, ⁴Divisions of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, ⁵University Hospital Münster, Münster, Germany, ⁶Pediatric Clinic and Rheumatology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, ⁷University of Utah, Salt Lake City, UT, ⁸The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada, ⁹Emory + Children's Pediatric Institute, Atlanta, GA, ¹⁰Stanford University, Stanford, CA, ¹¹Pediatric Rheumatology Department. Hospital Sant Joan de Déu. Universitat de Barcelona, Esplugues de Llobregat, Spain, ¹²Universidade Federal de São Paulo, São Paulo, Brazil, ¹³Universidade Federal do Rio de Janeiro, Rio De Janeiro, Brazil, ¹⁴University College London, London, United Kingdom, ¹⁵Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁶International Childhood Arthritis Genetics Consortium, Bethesda, MD, ¹⁷National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a genetically complex inflammatory condition. It can be marked by severe systemic inflammation that resembles the hereditary periodic…

« Previous Page
1
…
4
5
6
7
8
…
15
Next Page »

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 ET on November 14, 2024. 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].

ACR Abstract Embargo Policy

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.

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying financial and other sponsors about this policy. If you have questions about the abstract embargo policy, please contact the public relations department at [email protected].

Copyright Policy

View ACR Policies.