CIS/LRA/FOCIS Symposium:
Deciphering the Genetic Etiologies of Lupus - One Gene at a Time
Tuesday June 24, 2025 @ 8:00 am - 11:30 am EST
Systemic Lupus Erythematosus (SLE) is an immune-mediated disorder with heterogeneous clinical presentation, currently managed through organ-specific therapeutic algorithms. To achieve the goal of pathway and patient-specific targeted therapy (i.e., precision medicine) in SLE, it may be necessary to consider novel approaches to disease stratification to guide treatment. Genetic etiologies are a critical factor in the mechanistic understanding, development, and manifestations of patient- and organ- clinical heterogeneity. While most identified genetic risk factors in SLE are the result of low effect size and higher frequency variants, ultra-rare monogenic causative variants underscore important immune pathways that lead to SLE when dysregulated. This symposium will highlight several inborn errors of immunity across diverse immune pathways that can lead to a clinical presentation of SLE, and end with a discussion of SLE genetic risk variants. Investigations of the manifestations and treatment responses of individuals with genetic causes of SLE may provide opportunities for unique patient sub-classifications and novel therapeutic approaches.
8:00-8:20 Susan Canny MD PhD
Assistant Professor of Pediatrics, Division of Rheumatology
University of Washington; Seattle Children’s Hospital
scanny@benaroyaresearch.org
The NRAS/KRAS Disease Spectrum includes Systemic Lupus Erythematosus (SLE)
8:20-8:40 Tiphanie Vogel MD PhD
Assistant Professor of Pediatrics, Division of Rheumatology; and Internal Medicine, Division of Immunology, Allergy, and Rheumatology; and Center for Human Immunobiology
Baylor College of Medicine; Texas Children’s Hospital
tiphanie.vogel@bcm.edu
Coatomer associated protein subunit alpha (COPA) Syndrome: The Next Great Imitator
8:40-9:00 Elena Hsieh MD
Associate Professor of Pediatrics, Section of Allergy and Immunology; and Immunology and Microbiology
Director, Jeffrey Modell Foundation Primary Immunodeficiency Center
Director, FOCIS Center of Excellence
University of Colorado School of Medicine; Children’s Hospital Colorado
elena.hsieh@cuanschutz.edu
Activated PI3K-Delta Syndrome (APDS) Therapy Illustrates Precision Medicine in Pediatric Autoimmunity
9:00-9:20 Lindsay Burrage MD PhD
Associate Professor of Molecular and Human Genetics
Baylor College of Medicine; Texas Children’s Hospital
burrage@bcm.edu
Lysinuric Protein Intolerance (LPI): Complex Immune Dysregulation in an Inborn Error of Metabolism
9:20-9:30 Q&A for 1st session
9:30-10:00 Coffee Break
10:00-10:20 Shaun Jackson MD PhD
Associate Professor of Pediatrics, Division of Rheumatology and Nephrology
University of Washington; Seattle Children’s Hospital
shaun.jackson@seattlechildrens.org
B cell-intrinsic Regulation of Lupus Pathogenesis by NADPH Oxidase
10:20-10:40 Alice Lepelley PhD
Researcher
Imagine Institute of Genetic Diseases/Inserm, Paris, France
alice.lepelley@institutimagine.org
New Insights on Toll Like Receptor (TLR)-mediated Genetic Inflammatory Disease
10:40-11:20 Leah Kottyan PhD
Professor of Pediatrics, Division of Eosinophilic Disorders
Chair, Basic Science Research Committee, Cincinnati Children’s Research Foundation
Director, Center for Autoimmune Genomics and Etiology (CAGE)
Cincinnati Children’s Hospital Medical Center
leah.kottyan@cchmc.org
Making Sense of Lupus Risk Variants
11:20-11:30 Q&A for 2nd session