Abstracts tagged "genomics"

Abstract Number: 1823 • ACR Convergence 2024
Identification and Prediction of Systemic Sclerosis Intrinsic Subtypes Using Semi-Supervised and Supervised Learning on Gene Expression Data of Multiple Cohorts
Zhiyun Gong¹, Rezvan Parvizi², Helen Jarnagin¹, Haobin Chen³, Madeline Morrisson⁴, Tammara Wood⁵, Monique Hinchcliff⁶ and Michael Whitfield², ¹Dartmouth College, Lebanon, NH, ²Geisel School of Medicine at Dartmouth, Hanover, NH, ³Dartmouth, Lebanon, NH, ⁴Geisel School of Medicine at Dartmouth College, Hanover, NH, ⁵Dartmouth, Hanover, NH, ⁶Yale School of Medicine, Westport, CT
Background/Purpose: Systemic Sclerosis (SSc) is a molecularly heterogeneous disease. Distinct subtypes of patients have been identified based on gene expression in skin. In this study,…
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: 0449 • ACR Convergence 2023
Parsing Pathophysiology of Rheumatoid Arthritis-associated Lymphoproliferative Disorders via Whole RNA Transcriptome Analysis: Multi-center Study in Japan
ATSUKO TSUJII¹, KAZUKO SAKAI², SHIRO OHSHIMA¹, YUKIHIKO SAEKI¹, MASATO YAGITA³, TOMOYA MIYAMURA⁴, Masao Katayama⁵, YASUSHI HIRAMATSU⁶, SHINJI HIGA⁷, FUMINORI HIRANO⁸, KENJI ICHIKAWA⁹, NORIYUKI CHIBA¹⁰, TAKAO SUGIYAMA¹¹, ATSUSHI IHATA¹², HIROSHI TSUTANI¹³, KOICHIRO TAKAHI¹⁴, KIYOSHI MIGITA¹⁵, SHUNSUKE MORI¹⁶, NORIE YOSHIKAWA¹⁷, ATSUHISA UEDA¹⁸, SHOUHEI NAGAOKA¹⁹, KEIGO SETOGUCHI²⁰, SHOJI SUGII²¹, ASAMI ABE²², TOSHIAKI SUGAYA²³, HIROYUKI SUGAHARA²⁴, SHINICHIRO TSUNODA²⁴, NORISHIGE IIZUKA²⁵, RYOSUKE YOSHIHARA²⁶, HIROKI YABE²⁷, TOMOAKI FUJISAKI²⁸, EIICHI MORII²⁹, KAZUYOSHI SAITO³⁰, Kiyoshi Matsui³¹, YASUHIKO TOMITA³², HIROSHI FURUKAWA³³, Shigeto Tohma³⁴, KAZUTO NISHIO² and YOSHIHIKO HOSHIDA³⁵, ¹National Hospital Organization (NHO), Osaka Minami Medical Center, Kawachinagano, Japan, ²Kindai University School of Medicine Department of Genome Biology, Sayama, Japan, ³Medical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Osaka, Japan, ⁴NHO Kyushu Medical Center, Fukuoka, Japan, ⁵National Hospital Organization, Nagoya Medical Center, Nagoya, JP, Nagoya, Japan, ⁶Japanese Red Cross Society Himeji Hospital, Himeji, Japan, ⁷Daini Osaka Police Hospital, Osaka, Japan, ⁸NHO Asahikawa Medical Center, Asahikawa, Japan, ⁹Nissei hospital, Sapporo, Japan, ¹⁰NHO Morioka Medical Center, Morioka, Japan, ¹¹NHO Shimoshizu Hospital, Yotsukaido, Japan, ¹²NHO Yokohama Medical Center, Yokohama, Japan, ¹³NHO Awara Hospital, Awara, Japan, ¹⁴NHO Osaka Toneyama Medical Center, Toyonaka, Japan, ¹⁵Department of Rheumatology Fukushima Medical University School of Medicine, Fukushima, Japan, ¹⁶NHO Kumamoto Saishun Medical Center, Koshi, Japan, ¹⁷NHO Miyakonojo Medical Center, Miyakonojo, Japan, ¹⁸Yokohama City University Medical Center, Yokohama, Japan, ¹⁹Yokohama Minami Kyosai Hospital, Yokohama, Japan, ²⁰Tokyo Metropolitan Cancer and Infectious diseases Center Komagome Hospital / Tokyo Metropolitan Komagome Hospital, Tokyo, Japan, ²¹Tokyo Metropolitan Matsuzawa Hospital, Tokyo, Japan, ²²Niigata Rheumatic Center, Shibata, Japan, ²³Fuchu Hospital, Izumi, Japan, ²⁴Sumitomo Hospital, Osaka, Japan, ²⁵Kishiwada City Hospital, Kishiwada, Japan, ²⁶Hyogo Prefectural Kakogawa Hospital, Kakogawa, Japan, ²⁷Ako Central Hospital, Ako, Japan, ²⁸Matsuyama Red Cross Hospital, Matsuyama, Japan, ²⁹Osaka University, Suita, Japan, ³⁰University of Occupational and Environmental Health, Kitakyushu, Japan, ³¹Hyogo Medical University, Nishinomiya, Japan, ³²International University of Health and Welfare, Otawara City, Japan, ³³NHO Tokyo National Hospital, Kiyose, Japan, ³⁴NHO Tokyo National Hospital, Dallas, TX, ³⁵National Hospital Organization Osaka Minami Medical Center, Kawachinagano, Japan
Background/Purpose: Lymphoproliferative disorders (LPD) in rheumatoid arthritis (RA) (RA-LPD) have unique pathophysiological features. More than half of the cases of RA-LPD undergo spontaneous regression after…
Abstract Number: 1759 • ACR Convergence 2023
Runx1 Is a Key Transcription Factor That Drives Synovial Fibroblast Pathogenicity in Rheumatoid Arthritis
Christopher Mahony¹, Samuel Kemble², Paulynn Chin¹, Cesar Prada³, Annie Hackland¹, Patricia Reis-Nisa¹, Lucy-Jayne Marsh¹, Peter Keane¹, Constanze Bonifer¹, Christopher Buckley⁴, Stevephen Sansom⁵, Mark Coles⁴ and Adam Croft¹, ¹University of Birmingham, Birmingham, United Kingdom, ²University Birmingham, Rugeley, United Kingdom, ³The Kennedy Institute, Oxford, United Kingdom, ⁴University of Oxford, Oxford, United Kingdom, ⁵Kennedy Institute of Rheumatology, Oxford, United Kingdom
Background/Purpose: Fibroblasts are key effector cells in rheumatoid arthritis (RA) underpinning joint inflammation and damage. Synovial tissue fibroblasts are heterogenous and acquire pathogenic cell states…
Abstract Number: 0014 • ACR Convergence 2023
The 330 Genetic Risk Loci of Systemic Lupus Erythematosus (SLE) Now Known Are Consonant with Multiple Causal Mechanisms Involving Epstein-Barr Virus (EBV)-Encoded Transcription Co-factors (TFs) in EBV-Infected B Cells
Viktoryia Laurynenka¹, Xiaoting Chen², sreeja Parameswaran², Leah Kottyan², Matthew Weirauch², Iouri Chepelev³, Kenneth Kaufman³ and John Harley³, ¹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³US Department of Veterans Affairs Medical Center, Cincinnati, OH
Background/Purpose: Association of EBV infection with SLE, data suggesting an anti-EBNA1 molecular mimicry fostering SLE autoimmunity, and mechanisms in EBV infected B cells support a…
Abstract Number: 0600 • ACR Convergence 2023
Identification of Subsets of SLE Patients Responsive to Baricitinib by Transcriptomic Analysis at Baseline
Prathyusha Bachali¹, Amrie Grammer² and Peter Lipsky², ¹AMPEL BioSolutions, Redmond, WA, ²AMPEL BioSolutions, Charlottesville, VA
Background/Purpose: Baricitinib is an inhibitor of Jak1 approved for treatment of rheumatoid arthritis, atopic dermatitis, alopecia areata and Covid-19. A phase 2 trial showed success…
Abstract Number: 1783 • ACR Convergence 2023
Integrative Functional Genomics Points to Natural Killer Cells as Key Drivers in the Pathogenesis of Ankylosing Spondylitis
Marcos Chiñas¹, Daniela Fernandez-Salinas¹, Vitor Aguiar¹, Victor Caballero-Nieto², Micah Lefton³, Joerg Ermann⁴ and Maria Gutierrez-Arcelus¹, ¹Boston Children's Hospital, Boston, MA, ²Boston Children's Hospital, Montpellier, France, ³Brigham and Women's Hospital, Boston, MA, ⁴Division of Rheumatology, Inflammation and Immunity, Brigham and Women's Hospital and Harvard Medical School, Boston, MA
Background/Purpose: Multiple lines of evidence indicate that ankylosing spondylitis (AS) is a lymphocyte-driven disease. However, which lymphocyte populations are critical in AS pathogenesis is not…
Abstract Number: 0016 • ACR Convergence 2023
Role of TP53 in Inflammatory Reprogramming of Rheumatoid Arthritis Synovial Fibroblasts
Anil Singh and Salahuddin Ahmed, Washington State university, Spokane, WA
Background/Purpose: TP53, a tumor-suppressor protein known as the guardian of the genome, plays a critical role in regulating genomic stability and cellular function. When TP53…

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