Abstracts tagged "genomics"

Abstract Number: 0889 • ACR Convergence 2024
Unraveling the Progression of Sjögren’s Disease at the Cellular and Histological Level Using Single-cell and Spatial Transcriptomics
Tomás Gomes¹, Matilde Bandeira², Rui do Amaral Vieira¹, Bianca Correia¹, Sofia Barreira³, Pedro Gaspar⁴, Rita Cruz-Machado⁵, Beatriz Filipe¹, Pedro Ávila-Ribeiro¹, Filipa Ribeiro¹, Bruno Vidal¹, Beatriz Val¹, Filipa Costa⁶, Ana Teodósio Chícharo⁷, Augusto Silva¹, Manuel Silvério-Antonio¹, João Forjaz Lacerda¹, João Eurico Fonseca¹, Dolores López Presa⁸, Nikita Khmelinskii¹, Saumya Kumar⁹, Luis Graca¹ and Vasco C. Romão¹⁰, ¹Instituto de Medicina Molecular (iMM Lisboa), Lisboa, Portugal, ²Centro Hospitalar Universitario Lisboa Norte, Lisboa, Portugal, ³Unidade Local de Saúde Santa Maria, Serviço de Reumatologia e Doenças Ósseas Metabólicas, Lisboa, Portugal, Lisbon, Portugal, ⁴Internal Medicine Department, Hospital Santa Maria, Unidade Local de Saúde Santa Maria, Lisbon, Portugal, Povoa de Santa Iria, Portugal, ⁵Unidade Local de Saúde Santa Maria, Serviço de Reumatologia e Doenças Ósseas Metabólicas, Lisboa, Portugal, Lisboa, Portugal, ⁶Rheumatology Department, Unidade Local de Saúde de Santa Maria. Rheumatology Research Unit, Instituto de Medicina Molecular João Lobo Antunes, Lisbon, Portugal, ⁷Unidade Local de Saúde do Algarve, Hospital de Faro, Faro, Portugal, Faro, Portugal, ⁸Pathology Department, Unidade Local de Saúde de Santa Maria, Lisbon Academic Medical Centre, Lisboa, Portugal, ⁹TWINCORE, a joint venture between the Helmholtz-Centre for Infection Research (HZI) and the Hannover Medical School (MHH), Hannover, Germany, Hannover, Germany, ¹⁰Rheumatology Department, ULS Santa Maria & Rheumatology Research Unit, Instituto Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
Background/Purpose: Sjögren’s Disease (SjD) is a systemic autoimmune disease that primarily targets salivary and lacrimal glands, causing tissue deterioration and loss of function. Disease progression…
Abstract Number: 1773 • ACR Convergence 2024
Divergent Genetic Architecture in Boys and Girls with NEMO-deleted Exon 5 Autoinflammatory Syndrome (NEMO-NDAS) Implies Role for Wildtype Effector Cells
Adriana Almeida de Jesus¹, Kip Friend², Bin Lin³, Eric Karlins⁴, Colton McNinch⁴, Sara Alehashemi⁵, Keith Kauffman⁶, FARZANA BHUYAN³, Taylor Newbolt⁶, Andrea Bohrer⁷, Andre Rastegar³, Sophia Park³, Dana Kahle³, Jacob Mitchell³, Amanda Chen³, Sofia Torreggiani⁸, Kader Cetin Gedik⁹, Katsiaryna Uss², Amer Khojah¹⁰, Eveline Wu¹¹, Christiaan Scott¹², Timothy Ronan Leahy¹³, Emma MacDermott¹⁴, Orla Killeen¹⁵, Thaschawee Arkachaisri¹⁶, Brian Nolan¹⁷, Zoran Gucev¹⁸, Kathryn Cook¹⁹, Vafa Mammadova²⁰, Gulnara Nasrullayeva²⁰, Mariana Correia Marques²¹, Abigail Bosk²², Seza Ozen²³, Scott Canna²⁴, Maude Tusseau²⁵, Emilie Chopin²⁶, Guilaine Boursier²⁷, Veronique Hentgen²⁸, Ines Elhani²⁹, Mario Sestan³⁰, Marija Jelusic³¹, Danielle Fink³², Douglas Kuhns³², Clifton Dalgard³³, Alexandre Belot³⁴, Timothy Moran¹¹, Katherine Meyer-Barber⁷, Andrew Oler⁴, Daniel Barber⁶ and Raphaela Goldbach-Mansky³⁵, ¹NIAID, NIH, Silver Spring, MD, ²Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Bethesda, MD, ³TADS, NIAID, NIH, Bethesda, MD, ⁴BCBB, NIAID, NIH, Bethesda, MD, ⁵NIH/NIAID/TADS, Potomac, MD, ⁶T Lymphocyte Biology Section, LPD, NIAID, NIH, Bethesda, MD, ⁷Inflammation and Innate Immunity Unit, LCIM, NIAID, NIH, Bethesda, MD, ⁸University Of Maryland Baltimore, Baltimore, MD, ⁹Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Pittsburgh, PA, ¹⁰Umm Al-Qura University, Makkah, Saudi Arabia, ¹¹University of North Carolina School of Medicine, Chapel Hill, NC, ¹²University of Cape Town, Cape Town, South Africa, ¹³Children’s Health Ireland (CHI) at Crumlin, Dublin, Ireland, ¹⁴CHI Crumlin, Dublin, Dublin, Ireland, ¹⁵Children's Health Ireland, Dublin, Ireland, ¹⁶KK Women's and Children's Hospital, SingHealth, Singapore, Singapore, ¹⁷Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL, ¹⁸University Children's Hospital, Skopje, Macedonia, ¹⁹Akron Children's Hospital, Akron, OH, ²⁰Azerbaijan Medical University, Baku, Azerbaijan, ²¹National Institutes of Health, Bethesda, MD, ²²Children's National Hospital, Bethesda, DC, ²³Department of Pediatrics, Hacettepe University, Ankara, Turkey, ²⁴Children's Hospital of Philadelphia, Philadelphia, PA, ²⁵RAISE, Hospices Civils de Lyon, Lyon, France, ²⁶Hospices Civils de Lyon, Lyon, France, ²⁷University of Montpellier, Montpellier, ²⁸Laboratoire de Génétique des Maladies Rares et Autoinflammatoires, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CEREMAIA, CHU de Montpellier, Univ Montpellier, Montpellier, France, Le Chesnay, France, ²⁹Department of Internal Medicine, Caen University Hospital, Caen, France, Caen, France, ³⁰University of Zagreb School of Medicine University Hospital Centre Zagreb, Zagreb, Croatia, ³¹University of Zagreb School of Medicine, University Hospital Centre Zagreb, Zagreb, Zagreb, Croatia, ³²Collaborative Clinical Research Branch, NIAID, NIH, Bethesda, MD, Bethesda, MD, ³³The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, ³⁴Hospices Civils de Lyon, Collonges au mont d'or, France, ³⁵Translational Autoinflammatory Diseases section (TADS), LCIM, NIAID, NIH, Potomac, MD
Background/Purpose: Splice-site variants in X-linked IKBKG cause NEMO-deleted exon5 autoinflammatory syndrome (NEMO-NDAS); a pseudogene (IKBKGP1) complicates genetic diagnosis. NEMO-NDAS is four times more common in…
Abstract Number: 2641 • ACR Convergence 2024
Identification of Systemic Sclerosis Intrinsic Subtypes in the ASSET Clinical Trial Using PBC Gene Expression
Zhiyun Gong¹, Timothy Sullivan², Tammara Wood³, David Fox⁴, Dinesh Khanna⁵ and Michael Whitfield⁶, ¹Dartmouth College, Lebanon, NH, ²Geisel School of Medicine at Dartmouth, Lebanon, NH, ³Dartmouth, Hanover, NH, ⁴University of Michigan, Dexter, MI, ⁵University of Michigan, Ann Arbor, MI, ⁶Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Systemic sclerosis (SSc) is molecularly heterogeneous and distinct subtypes of patients have been identified based on gene expression in skin. Although treatments have improved,…
Abstract Number: 0891 • ACR Convergence 2024
Shared and Disease-Specific Mechanisms of Autoimmunity Using Single Cell Sequencing of Peripheral Immune Cells
Jacquelyn Nestor¹, Rachelly Normand¹, Wamia Said¹, Sergio Aguilar², Nandini Samanta¹, Sidney Martin¹, Roya Best¹, Hoang Anh Tran¹, Adrien Antoinette¹, Eilish Dillon³, Devin King³, April Jorge⁴, Maureen Leonard⁴, Pritha Sen³, Kerry Reynolds⁴, John Stone⁵, Michelle Rengarajan¹, Tanuja Chitnis⁶, Kevin Wei⁷, Deepak Rao³, Andrew Luster⁸, Gary Reynolds¹ and Alexandra-Chloe Villani¹, ¹Massachusetts General Hospital, Harvard Medical School, Broad Institute of MIT and Harvard, Boston, MA, ²National Center for Genomic Analysis, Barcelona, Spain, ³Brigham and Women's Hospital, Harvard Medical School, Boston, MA, ⁴Massachusetts General Hospital, Harvard Medical School, Boston, MA, ⁵Massachusetts General Hospital , Harvard Medical School, Concord, MA, ⁶Brigham and Women's Hospital, Massachusetts General Hospital, Harvard Medical School, Boston, MA, ⁷Brigham and Women's Hospital at Harvard Medical School, Boston, MA, ⁸Massachusetts General Hospital, Charlestown, MA
Background/Purpose: Rheumatologic diseases are characterized by distinct clinical presentations and patterns of organ involvement, yet share many genetic risk factors and treatment responses. This suggests…
Abstract Number: 1780 • ACR Convergence 2024
Next Generation Sequencing Analysis Reveals Complex Genetic Architecture of Childhood-onset Systemic Lupus Erythematosus
Laura Lewandowski¹, Linda Hiraki², Christiaan Scott³, Ana Barrera-Vargas⁴, Diana Gómez-Martin⁵, Michael Ombrello⁶, Ivona Aksentijevich⁷, Zuoming deng⁸, Anthony Musolf⁹, Subrata Paul¹⁰, Dan Hupalo¹¹, Clifton Dalgard¹¹, Sarfaraz Hasni¹², Earl Silverman¹³ and Mariana Kaplan¹⁴, ¹NIAMS, NIH, Bethesda, MD, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Pediatric Rheumatology, Children’s Hospital of Eastern Ontario and University of Ottawa, Ottawa, ON, Canada, ⁴Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Ciudad de México, Federal District, Mexico, ⁵INCMNSZ, Mexico, Distrito Federal, Mexico, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), North Bethesda, MD, ⁷National Human Genome Research Institute, NIH, Bethesda, MD, ⁸National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, Bethesda, MD, ⁹Computational and Statistical Genomics Branch, NHGRI, NIH, Baltimore, MD, ¹⁰Collaborative Bioinformatics Resource, NIAID, NIH, Bethesda, MD, ¹¹The American Genome Center, Department of Anatomy, Physiology & Genetics, Uniformed Services University, Bethesda, MD, ¹²National Institutes of Health, Bethesda, MD, ¹³Silverman, Toronto, ON, Canada, ¹⁴NIAMS/NIH, Bethesda, MD
Background/Purpose: Systemic Lupus Erythematosus (SLE) is a potentially life-threatening autoimmune disease. Childhood-onset SLE (cSLE) patients have younger disease onset and more severe disease than adults,…
Abstract Number: 2691 • ACR Convergence 2024
Transcriptomic Changes in CD4+ T Lymphocytes in Eosinophilic Granulomatosis with Polyangiitis
Roberto Ríos-Garcés¹, Núria Farran¹, Salvador Naranjo-Suarez², Roser Alba-Rovira¹, Sergio Prieto-González³, Itziar Tavera-Bahillo¹, Roser Solans-Laqué⁴, Ebymar Arismendi⁵, Marc Corbera-Bellalta¹, Javi Marco-Hernández¹, Farah Kamberovic¹, Nina Visocnik¹, Maria Cid⁶ and Georgina Espígol-Frigolé¹, ¹Vasculitis Research Group, Autoimmune Diseases Department, IDIBAPS, Hospital Clinic, University of Barcelona, Barcelona, Spain, ²Angiogenesis in Liver Disease Research Group, IDIBAPS, Hospital Clinic, University of Barcelona, Barcelona, Spain, ³Vasculitis Research Group, Autoimmune Diseases Department, IDIBAPS, Hospital Clinic, University of Barcelona, bar, Spain, ⁴Internal Medicine Service, Vall d'Hebron Hospital University and Campus, Barcelona, Spain, ⁵Pneumology Department, Hospital Clinic, IDIBAPS, University of Barcelona, CIBERES, Barcelona, Spain, ⁶Hospital Clinic Barcelona. University of Barcelona, Barcelona, Spain
Background/Purpose: Eosinophilic Granulomatosis with polyangiitis (EGPA) is a rare systemic autoimmune disorder, included within the ANCA-associated vasculitis. It is characterized by a diverse clinical profile,…
Abstract Number: 0901 • ACR Convergence 2024
Intergenic Alu Elements Are Uniquely Expressed in Dermatomyositis and Correlate with Interferon Stimulated Genes
Rayan Najjar¹, Andrew Mammen² and Tomas Mustelin¹, ¹University of Washington, Seattle, WA, ²NIH, Bethesda, MD
Background/Purpose: As genes constitute < 2% of our genomes, there is a need to explore potential roles of other genomic elements in autoimmune disease. We…
Abstract Number: 1804 • ACR Convergence 2024
Investigating Adaptive Immune Receptor Repertoires by Deep Immune Cell Phenotyping in Preclinical Autoimmunity Development
Aleksandra Bylinska¹, Miles Smith¹, Rufei Lu¹, Benjamin Jones², Carla Guthridge¹, Matthew Caleb Marlin¹, Christian Wright³, Susan Macwana³, Wade DeJager³, Marci Beel³, Christopher Lessard¹, Cristina Arriens¹, Joan Merrill⁴, Judith James¹ and Joel Guthridge¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oklahoma State University, Oklahoma City, OK, ³Oklahoma Medical Research Foundation, Oklahoma City, ⁴Oklahoma Medical Research Foundation, Oklahoma City 73104, OK
Background/Purpose: A loss of systemic self-tolerance to anti-nuclear autoantibodies (ANAs) is one of the main hallmarks of SLE. However, most healthy females with ANAs will…
Abstract Number: 0904 • ACR Convergence 2024
Defining the Function of Disease Variants with CRISPR Editing and Multimodal Single Cell Sequencing
Yuriy Baglaenko¹, MIchelle Curtis², Majd Al Suqri³, Ryan Agnew³, Aparna Nathan⁴, Hafsa Mire⁴, Annelise Yoo Mah-Som³, David Liu⁵, Gregory Newby⁶ and Soumya Raychaudhuri³, ¹Cincinnati Children's Hospital, Cincinnati, OH, ²Broad Institute, Boston, MA, ³Brigham and Women's Hospital, Boston, MA, ⁴Harvard Medical School, Boston, MA, ⁵Broad Institute, Cambridge, MA, ⁶Johns Hopkins, Baltimore, MD
Background/Purpose: Genetic studies have identified thousands of individual disease-associated non-coding alleles, but identification of the causal alleles and their functions remain critical bottlenecks. Even though…
Abstract Number: 1810 • ACR Convergence 2024
Modulation of Type I Interferon Signaling by Anifrolumab Alters the Spatial Immune Landscape in Cutaneous Lupus Erythematosus
Ksenia Anufrieva¹, Rochelle Castillo², Ce Gao², Jessica Liu², Neda Shahriari², Kimberly Hashemi², Dustin Taylor³, Rachael Rowley², Elizabeth Rainone², Avery LaChance², Rachel Gate⁴, ilya Korsunsky², Ruth Ann Vleugels⁵ and Kevin Wei⁶, ¹BWH, Cambridge, MA, ²Brigham and Women's Hospital, Boston, MA, ³Vanderbilt University Medical Center, Nashville, TN, ⁴10x Genomics, Pleasanton, CA, ⁵Brigham and Women's Hospital, Brookline, MA, ⁶Brigham and Women's Hospital at Harvard Medical School, Boston, MA
Background/Purpose: Reliable and effective treatments for refractory cutaneous lupus erythematosus (CLE) remained elusive until the arrival of anifrolumab, a monoclonal antibody targeting the type I…
Abstract Number: 0022 • ACR Convergence 2024
Transcriptomic Characterization of Knee Capsule Fibroblasts and Mesenchymal Stromal Cells Reveals an Association Between Flexion Contracture and Alterations in Immune Pathways in People with End-stage OA
Odette Laneuville¹, Daniel Stratis¹, Robert Feibel², Guy Trudel³ and T Mark Campbell⁴, ¹University of Ottawa, Ottawa, ON, Canada, ²The Ottawa Hospital, Ottawa, ON, Canada, ³Ottawa Hospital Research Institute, Ottawa, ON, Canada, ⁴Bruyère Research Institute, Ottawa, ON, Canada
Background/Purpose: Over 10% of adults have symptomatic knee OA but no disease-modifying interventions exist. A flexion contracture (loss of extension; FC) presents in 1/3 of…
Abstract Number: 0907 • ACR Convergence 2024
Association of Rare and Common Genetic Variants in MOCOS with Inadequate Response to Allopurinol
Niamh Fanning¹, Murray Cadzow², Ruth Topless³, Chris Frampton⁴, Nicola Dalbeth⁵, Tony Merriman⁶ and Lisa Stamp⁴, ¹University of Otago, Christchurch, New Zealand, ²University of Otago, Dunedin 9054, New Zealand, ³University of Otago, Dunedin, New Zealand, ⁴University of Otago, Christchurch, Christchurch, New Zealand, ⁵University of Auckland, Auckland, New Zealand, ⁶University of Alabama at Birmingham, Homewood, AL
Background/Purpose: The minor allele of the common rs2231142 (Q141K) ABCG2 variant predicts inadequate response to allopurinol urate lowering therapy (ULT). We hypothesize that additional variants in genes…
Abstract Number: 1819 • ACR Convergence 2024
Insulin-like Growth Factor Binding Protein-7 (IGFBP7) Plays a Pathogenic Role in Dermal Fibrosis and Is Increased in Systemic Sclerosis
Ye Jin Jeong¹, Gayathri Guru Murthy¹, Gaochan Wang¹, Tahia Rahman¹ and Benjamin Korman², ¹University of Rochester School of Medicine and Dentistry, Rochester, NY, ²University of Rochester, Rochester, NY
Background/Purpose: Systemic sclerosis (SSc, scleroderma) is an autoimmune connective tissue disease that causes autoimmunity, vascular dysfunction, and fibrosis of the skin, lungs, and other organs.…
Abstract Number: 0028 • ACR Convergence 2024
Human Meniscus Histopathological and Transcriptomic Changes at Early and Advanced Stages of Knee Osteoarthritis
Takuya Sakamoto¹, Hannah Swahn¹, Merissa Olmer¹, Rachel Miller², Anne-Marie Malfait³ and Martin Lotz¹, ¹Scripps Research Institute, La Jolla, CA, ²Rush University Medical Center, Chicago, IL, ³Rush University Medical Center, Division of Rheumatology, Chicago, IL
Background/Purpose: The knee menisci are essential elements in joint biomechanics and meniscus damage is a driver of cartilage destruction and knee osteoarthritis. Meniscus damage and…
Abstract Number: 0909 • ACR Convergence 2024
Identifying Predictive Serum Soluble Mediators Signatures Specific to ANA+ at Risk of SLE Individuals with Next Generation Proteomics
Aleksandra Bylinska¹, Miles Smith¹, Rufei Lu¹, Benjamin Jones², Carla Guthridge¹, Matthew Caleb Marlin¹, Christian Wright³, Susan Macwana³, Wade DeJager³, Marci Beel³, Christopher Lessard¹, Cristina Arriens¹, Joan Merrill⁴, Judith James¹ and Joel Guthridge¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Oklahoma State University, Oklahoma City, OK, ³Oklahoma Medical Research Foundation, Oklahoma City, ⁴Oklahoma Medical Research Foundation, Oklahoma City 73104, OK
Background/Purpose: Multiple factors can predispose individuals to development of SLE, including the presence of African American ancestry, lupus-associated autoantibodies (ANAs), or some clinical manifestations of…

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