Lupus is an autoimmune disease in which the immune system attacks a person’s own body tissues. Up to 20% of people are diagnosed as children or teens. Symptoms vary widely from person to person and can also vary over time, with different people having different disease courses.
Lupus is a result of both inherited genetic and environmental factors. One powerful way to understand the impact of genetic differences is to study gene expression. Gene expression refers to processes within a cell, where RNA transcripts are “read” as instructions to create proteins or execute tasks in the body. In many autoimmune diseases, including lupus, differences in RNA transcript levels reflect differences in disease risk and symptoms between people. However, few studies have collected RNA samples before patients start medication, or from the same person over time, in ethnically diverse groups of children with lupus.
In our Lupus Clinic (established in 1985) we have cared for nearly a thousand children and teens with lupus, making it one of the largest clinics of its kind in the world. Each year we see 50 new patients in the Lupus Clinic. Over the past decades our team has collected samples for genetic and gene expression studies in the majority of patients followed in our Lupus Clinic. This is a unique resource to study the relationship between genetic differences, RNA transcripts, and disease symptoms and activity over time.
We will profile RNA-transcripts from valuable blood samples from over 100 children with lupus at diagnosis before starting medication and in follow-up. We will also collect new samples for single cell analyses. With this information our team will use bioinformatics and statistics to study how RNA transcript levels, gene and cell population differences, correlate and predict changes in symptoms, disease activity and damage. These new insights into the biologic differences underlying the clinical differences in lupus, can improve care and the lives of people with lupus. |