Abstracts tagged "genomics"

Abstract Number: 2331 • ACR Convergence 2023
Molecular Predictors of Treatment Response in Two Trials of Abatacept in Systemic Lupus Erythematosus
Kevin Thomas¹, Miles Smith¹, Carla Guthridge¹, Nicolas Dominguez¹, Susan Macwana¹, Wade DeJager¹, Catriona Wagner¹, Peter Schafer², Stan Kamp¹, Betty Diamond³, David Wofsy⁴, Aikaterini Thanou⁵, Cristina Arriens⁶, Cynthia Aranow³, Joan Merrill¹, Judith James¹ and Joel Guthridge¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²Bristol Myers Squibb, Belle Mead, NJ, ³Feinstein Institutes for Medical Research, Manhasset, NY, ⁴University of California San Francisco, San Francisco, CA, ⁵University of Oklahoma Health, Edmond, OK, ⁶Oklahoma Medical Research Foundation and University of Oklahoma Health Sciences Center, Department of Arthritis & Clinical Immunology, Oklahoma City, OK
Background/Purpose: Abatacept (ABA) is a fusion protein that disrupts T cell co-stimulation by inhibiting interactions between CD28 and CD80/86. ABA is effective in RA, but…
Abstract Number: 0022 • ACR Convergence 2023
Validation of a Transcriptomic-Based Machine Learning Model to Establish the Endotype of SLE Patients
Erika Hubbard¹, Prathyusha Bachali², Kathryn Kingsmore Allison¹, Amrie Grammer¹ and Peter Lipsky¹, ¹AMPEL BioSolutions, Charlottesville, VA, ²AMPEL BioSolutions, Redmond, WA
Background/Purpose: We previously developed a novel machine learning (ML) pipeline leveraging analysis of gene expression data to identify subsets of SLE patients with common molecular…
Abstract Number: 0918 • ACR Convergence 2023
Network Analysis of Genome Sequences Identifies Important Pathways in the Pathogenesis of Childhood-onset Systemic Lupus Erythematosus
Katie Heitzman¹, Sneha Dass¹, Linda Hiraki², Earl Silverman³, Christiaan Scott⁴, Ana Barrera-Vargas⁵, Zuoming Deng⁶, Mariana Kaplan⁷, Luis Franco⁸ and Laura Lewandowski⁹, ¹Lupus Genetics and Global Health Disparities Unit, Systemic Autoimmunity Branch, NIAMS, Bethesda, MD, ²The Hospital for Sick Children, Toronto, ON, Canada, ³Silverman, Toronto, ON, Canada, ⁴Paediatric Rheumatology, Red Cross War Memorial Children’s Hospital and University of Cape Town, Cape Town, South Africa, ⁵Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ⁷Lupus Clinical Trials Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH); Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (NIH), Bethesda, MD, ⁸Functional Immunogenomics Section, Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD, ⁹Lupus Genetics and Global Health Disparities Unit, Systemic Autoimmunity Branch, NIAMS, NIH, Bethesda, MD
Background/Purpose: Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disorder. The pathogenesis of SLE is not fully understood, but high twin/sibling concordance rates suggest…
Abstract Number: 2345 • ACR Convergence 2023
Paired Kidney Biopsies from the AURORA 2 Study of Voclosporin in Active Lupus Nephritis
Samir Parikh¹, Salem Almaani², Arnon Arazi³, Huijuan Song¹, Pearlly Yan¹, Estela Puchulu-Campanella¹, Clint Abner⁴, Ernie Yap⁴, Krista Piper⁴, Robert B. Huizinga⁵ and Henry Leher⁴, ¹Ohio State University, Columbus, OH, ²Ohio State University Medical Center, Columbus, OH, ³Broad Institute of MIT and Harvard, Melrose, MA, ⁴Aurinia Pharmaceuticals Inc., Edmonton, AB, Canada, ⁵Reformation Consulting Services, North Saanich, BC, Canada
Background/Purpose: Voclosporin is approved for the treatment of adults with active lupus nephritis. Addition of voclosporin to mycophenolate mofetil (MMF) and low-dose glucocorticoids in the…
Abstract Number: 0026 • ACR Convergence 2023
Mapping Cellular Landscape of Esophageal Epithelium in Systemic Sclerosis Using Single-cell Transcriptomics
Matthew Dapas¹, Hadijat Makinde², Tyler Therron², Margarette Clevenger², Cenfu Wei², Mary Karns³, Kathleen Aren³, Dustin Carlson², Alexandra Soriano¹, Lutfiyya Muhammad⁴, John Pandolfino⁵, Harris Perlman², Deborah Winter⁶ and Marie-Pier Tetreault², ¹Northwestern University FSM Division of Rheumatology, Chicago, IL, ²Northwestern University, Chicago, IL, ³Northwestern University Division of Rheumatology, Chicago, IL, ⁴Northwestern University Feinberg School of Medicine, Chicago, IL, ⁵Northwestern University, Feinberg School of Medicine, Wilmette, IL, ⁶Northwestern University, Skokie, IL
Background/Purpose: Esophageal involvement is one of the strongest predictors of early mortality in individuals with systemic sclerosis (SSc). Individuals with SSc and esophageal involvement typically…
Abstract Number: 0948 • ACR Convergence 2023
Nintedanib Alters Fibroblast and Macrophage Diversity in a 3D Skin Model of Systemic Sclerosis (SSc)
Noelle Kosarek¹, Tamar Abel², Sasha Shenk³, Tammara Wood², Jonathan Garlick⁴, Patricia Pioli⁵ and Michael Whitfield⁵, ¹Dartmouth Geisel School of Medicine, Lebanon, NH, ²Dartmouth College, Hanover, NH, ³Tufts University, Boston, MA, ⁴Tufts University School of Dental Medicine, Boston, MA, ⁵Geisel School of Medicine at Dartmouth, Hanover, NH
Background/Purpose: Systemic Sclerosis (SSc) is a rare autoimmune disease characterized by fibrosis of the skin and internal organs. While the tyrosine kinase inhibitor Nintedanib is…
Abstract Number: 2431 • ACR Convergence 2023
Integrated Single Cell Multi-omics Analysis in At-Risk for Future Rheumatoid Arthritis (RA) and Early RA Reveals Shared Transcription Factor Profiles in Multiple Cell Lineages
Cong Liu¹, David Boyle¹, Adam Savage², Marie Feser³, Kristen Demoruelle³, kristine Kuhn⁴, Michael Holer³, kevin Deane³, Palak Genge², Morgan Weiss², Veronica Hernandez², Julian Reading², Jane Buckner⁵, Tom Bumol², Mark Gillespie², Peter Skene², Wei Wang⁶ and Gary Firestein¹, ¹University of California San Diego, San Diego, CA, ²Allen Institute for Immunology, Seattle, WA, ³University of Colorado Anschutz Medical Campus, Aurora, CO, ⁴University of Colorado School of Medicine, Aurora, CO, ⁵Benaroya Research Institute at Virginia Mason, Seattle, WA, ⁶University of California San Diego, La Jolla, CA
Background/Purpose: Identifying molecular signatures associated with anti-citrullinated protein antibody (ACPA) positive individuals who are 'at-risk' for future RA (At-Risk) and early RA (ERA) requires comprehensive…
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: 1110 • ACR Convergence 2022
Solving Sarcoidosis: A Transcriptome-based Meta-analysis of Clinical Sarcoidosis Studies Illustrates Shared Pathophysiology, Identifies Candidate Biomarkers and Suggests a Therapeutic Mechanism of JAK Inhibition
Ingrid Lindquist¹, James T. Rosenbaum² and Marcia Friedman³, ¹Oregon Health and Science University, Portland, OR, ²Legacy Devers Eye Institute, Portland, OR, ³Oregon Health and Science University, Division of Arthritis and Rheumatic Diseases, Portland, OR
Background/Purpose: Sarcoidosis is a systemic, non-caseating granulomatous disease driven by a dysregulated immune response to environmental antigens. A wide range of clinical manifestations coupled with…
Abstract Number: 1731 • ACR Convergence 2022
Systemic Sclerosis-Associated Class II HLA Alleles Restrict the Diversity of the CDR3 and the T Cell Receptor Repertoire in African American Patients
Urvashi Kaundal¹, Chloe Borden¹, Cihan Oguz², Jinghua Lu², Emilee Stenson¹, Ami Shah³, Maureen Mayes⁴, Ayo Doumatey⁵, Amy Bentley⁵, Daniel Shriner⁵, Robyn Domsic⁶, Thomas Medsger⁷, Paula Ramos⁸, Richard Silver⁸, Virginia Steen⁹, John Varga¹⁰, Vivien Hsu¹¹, Lesley Ann Saketkoo¹², Elena Schiopu¹³, Dinesh Khanna¹⁴, Jessica Gordon¹⁵, Lindsey Criswell¹⁶, Heather Gladue¹⁷, Chris Derk¹⁸, Elana Bernstein¹⁹, S. Louis Bridges, Jr.¹⁵, Victoria Shanmugam²⁰, Lorinda Chung²¹, Suzanne Kafaja²², Reem Jan²³, Marcin Trojanowski²⁴, Avram Goldberg²⁵, Benjamin Korman²⁶, Settara Chandrasekharappa⁵, Faiza Naz²⁷, Stefania Dell'Orso¹, Adebowale Adeyemo⁵, Charles Rotimi⁵, Elaine Remmers⁵, Francesco Boin²⁸, Fredrick Wigley²⁹, Peter Sun², Daniel Kastner⁵ and Pravitt Gourh³⁰, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ³Johns Hopkins Rheumatology, Baltimore, MD, ⁴Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, ⁵National Human Genome Research Institute, Bethesda, MD, ⁶University of Pittsburgh, Pittsburgh, PA, ⁷University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁸Medical University of South Carolina, Charleston, SC, ⁹Georgetown University School of Medicine, Washington, DC, ¹⁰University of Michigan, Ann Arbor, MI, ¹¹Rutgers-RWJ Medical School, South Plainfield, NJ, ¹²University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, ¹³Michigan Medicine, Ann Arbor, MI, ¹⁴Division of Rheumatology, Department of Internal Medicine, Scleroderma Program, University of Michigan, Ann Arbor, MI, ¹⁵Hospital for Special Surgery, New York, NY, ¹⁶National Human Genome Research Institute, NIH, Bethesda, MD, ¹⁷Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ¹⁸University of Pennsylvania, Philadelphia, PA, ¹⁹Columbia University, New York, NY, ²⁰George Washington University, Great Falls, VA, ²¹Stanford University, Stanford, CA, ²²UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, ²³University of Chicago, Chicago, IL, ²⁴Boston University School of Medicine, Boston, MA, ²⁵NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, ²⁶University of Rochester, Rochester, NY, ²⁷National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ²⁸Cedars-Sinai Medical Center, Los Angeles, CA, ²⁹Johns Hopkins University, Baltimore, MD, ³⁰National Institutes of Health, Bethesda, MD
Background/Purpose: Systemic sclerosis (SSc) is an autoimmune, fibrotic disorder that disproportionately affects African Americans (AA). Previous work from our lab and others has suggested a…
Abstract Number: 1118 • ACR Convergence 2022
Monocyte Transcriptomic Analysis Uncovers Heterogeneous Gene Expression Profiles in Systemic Lupus Erythematous (SLE) with and Without Subclinical Atherosclerosis
Laurel Woodridge¹, Elvira Chocano Navarro², George Robinson¹, Paul Ashford¹, Kirsty Waddington³, Anisur Rahman⁴, Christine Orengo⁵, Ines Pineda-Torra⁶ and Elizabeth Jury¹, ¹University College London, London, United Kingdom, ²VIHR, Barcelona, Spain, ³University College London (alumni), London, United Kingdom, ⁴Centre for Rheumatology, Department of Medicine, University College London, London, United Kingdom, ⁵ISMB / UCL, London, United Kingdom, ⁶Cabimer, Sevilla, Spain
Background/Purpose: A leading cause of mortality in SLE is cardiovascular disease (CVD) through accelerated atherosclerosis: the build-up of cells and lipids in the vascular wall.…
Abstract Number: 1734 • ACR Convergence 2022
Identification of Sjögren’s Disease-Associated T Cell Receptors Through Deep Sequencing and Single-Cell Transcriptomics
Ananth Aditya Jupudi¹, Michelle Joachims¹, Christina Lawrence¹, Charmaine Lopez-Davis¹, Bhuwan Khatri¹, Astrid Rasmussen¹, Lida Radfar², Kiely Grundahl¹, R. Hal Scofield², Judith James¹, Joel Guthridge¹, Christopher Lessard¹, Linda F. Thompson¹ and A. Darise Farris¹, ¹Oklahoma Medical Research Foundation, Oklahoma City, OK, ²University of Oklahoma Health Sciences Center, Oklahoma City, OK
Background/Purpose: Sjögren's disease (SjD) is a chronic rheumatic autoimmune disorder that primarily targets the lacrimal and salivary glands (SG) resulting in dry eyes and dry…
Abstract Number: 1119 • ACR Convergence 2022
Investigating Macrophage Heterogeneity in the Esophagus and Lungs of SSc Patients
Hadijat Makinde¹, Carla Cuda¹, Miranda Gurra¹, Mary Carns², Kathleen Aren², Gaurav Gadhvi¹, Salina Dominguez¹, Jane Dematte³, Darren Brenner⁴, John Pandolfino⁵, G. R. Scott Budinger⁴, Deborah Winter⁶ and Harris Perlman¹, ¹Northwestern University, Chicago, IL, ²Northwestern University Division of Rheumatology, Chicago, IL, ³Northwestern University, Elmhurst, IL, ⁴Northwestern University Feinberg School of Medicine, Chicago, IL, ⁵Northwestern University, Feinberg School of Medicine, Wilmette, IL, ⁶Northwestern University, Skokie, IL
Background/Purpose: Our group has made important contributions to an emerging understanding of monocytes and macrophages as central to SSc pathogenesis. There are numerous studies that…
Abstract Number: 1851 • ACR Convergence 2022
Phenotype and Genotype of Adult-onset Adenosine Deaminase 2 Deficiency Patients
Beibei Zu¹, rongrong wang², Xiaorou Wang³, Bingqing Zhang⁴, Na Xu⁴, Chengjin Huang⁴, Min Shen⁵ and Xuejun Zeng⁴, ¹Department of Rheumatology, Xuzhou Central Hospital, XuZhou, China, ²Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China, ³Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, Beijing, China, ⁴Department of General Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China, ⁵Department of Rheumatology, Peking Union Medical College Hospital, Beijing, China
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease, characterized by early‑onset vasculopathy, fever, strokes, livedoid rash, hepatosplenomegaly, and hematologic dysfunction,…
Abstract Number: 1126 • ACR Convergence 2022
Functional NOTCH4 Variants Increase Notch Signaling and Susceptibility for Systemic Sclerosis
Urvashi Kaundal¹, Emilee Stenson¹, Mousumi Sahu¹, Krishan Kumar Thakur¹, Janet Wang¹, Ami Shah², Maureen Mayes³, Ayo Doumatey⁴, Amy Bentley⁴, Daniel Shriner⁴, Robyn Domsic⁵, Thomas Medsger⁶, Paula Ramos⁷, Richard Silver⁷, Virginia Steen⁸, John Varga⁹, Vivien Hsu¹⁰, Lesley Ann Saketkoo¹¹, Elena Schiopu¹², Dinesh Khanna¹³, Jessica Gordon¹⁴, Lindsey Criswell¹⁵, Heather Gladue¹⁶, Chris Derk¹⁷, Elana Bernstein¹⁸, S. Louis Bridges, Jr.¹⁴, Victoria Shanmugam¹⁹, Lorinda Chung²⁰, Suzanne Kafaja²¹, Reem Jan²², Marcin Trojanowski²³, Avram Goldberg²⁴, Benjamin Korman²⁵, Jim Mullikin⁴, Stefania Dell'Orso¹, Adebowale Adeyemo⁴, Charles Rotimi⁴, Elaine Remmers⁴, Daniel Kastner⁴, Fredrick Wigley²⁶, Francesco Boin²⁷ and Pravitt Gourh²⁸, ¹National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ²Johns Hopkins Rheumatology, Baltimore, MD, ³Division of Rheumatology and Clinical Immunogenetics, University of Texas McGovern Medical School, Houston, TX, ⁴National Human Genome Research Institute, Bethesda, MD, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶University of Pittsburgh School of Medicine, Pittsburgh, PA, ⁷Medical University of South Carolina, Charleston, SC, ⁸Georgetown University School of Medicine, Washington, DC, ⁹University of Michigan, Ann Arbor, MI, ¹⁰Rutgers-RWJ Medical School, South Plainfield, NJ, ¹¹University Medical Center - Comprehensive Pulmonary Hypertension Center and ILD Clinic Programs // New Orleans Scleroderma and Sarcoidosis Patient Care & Research Centeris, New Orleans, LA, ¹²Michigan Medicine, Ann Arbor, MI, ¹³Division of Rheumatology, Department of Internal Medicine, Scleroderma Program, University of Michigan, Ann Arbor, MI, ¹⁴Hospital for Special Surgery, New York, NY, ¹⁵National Human Genome Research Institute, NIH, Bethesda, MD, ¹⁶Arthritis & Osteoporosis Consultants of the Carolinas, Charlotte, NC, ¹⁷University of Pennsylvania, Philadelphia, PA, ¹⁸Columbia University, New York, NY, ¹⁹George Washington University, Great Falls, VA, ²⁰Stanford University, Stanford, CA, ²¹UCLA Department of Medicine, Division of Rheumatology, Los Angeles, CA, ²²University of Chicago, Chicago, IL, ²³Boston University School of Medicine, Boston, MA, ²⁴NYU Langone Medical Center - NYU Hospital for Joint Diseases, Lake Success, NY, ²⁵University of Rochester, Rochester, NY, ²⁶Johns Hopkins University, Baltimore, MD, ²⁷Cedars-Sinai Medical Center, Los Angeles, CA, ²⁸National Institutes of Health, Bethesda, MD
Background/Purpose: Genome wide association studies (GWAS) in systemic sclerosis (SSc) have identified several genetic loci, but the search for the causal variant and gene continues.…

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