Genetics, genomics and proteomics
Scott Canna, MD
Children's Hospital of Philadelphia
Philadelphia, PA, United States
Disclosure(s): No financial relationships to disclose
Identification of mechanisms of immune dysregulation in rheumatic disease may enhance targeted treatment approaches and improve clinical outcomes. There is a spectrum of approaches to this type of high-dimensional evaluation of human immune disease. On one hand, study of patients with extreme phenotypes can identify novel inborn errors of immunity caused by very rare genetic variants with high effect size. These discoveries can inform mechanisms and treatment approaches for more common disorders. Conversely, much can be learned from defining common pathogenic variants of low effect size, typically implicated through genome-wide association studies of conditions such as inflammatory arthritis and systemic lupus erythematosus. In this session, the speakers will show how gene discovery in rare innate immune diseases and in more common autoimmune conditions expands our capacity to identify targetable therapeutic pathways in immune dysfunction.
Speaker: Dusan Bogunovic, PhD – Mt. Sinai School of Medicine
Speaker: Peter Nigrovic, MD – Boston Children's Hospital