CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

Autoimmune diseases affect 7–10% of individuals living in Europe and North America and represent a significant cause of disability and morbidity. In several high profile studies, our group showed that genetic risk factors for autoimmune diseases are shared across a range of diseases, including thyroiditis, ankylosing spondylitis, celiac disease, systemic lupus erythematosus, common variable immunodeficiency, ulcerative colitis, type 1 diabetes, juvenile idiopathic arthritis, and Crohn's disease. For these diseases, we have identified novel and significant genetic regions associated with autoimmune disease risk. Many of these genes encodeproteins that are established therapeutic targets and have diverse biological effects. We are currently being exploring these for clinical uses, actively pursuing drug-repurposing where gene networks and pathways could be targeted efficiently.

Dovetailing with this approach, we continue to lead an internationally prominent asthma genetics. As far back as 2010, our group published a genome-wide association study (GWAS) identifying a region on chromosome 17 as strongly correlated with susceptibility to asthma. The region in chromosome 1 was especially associated with asthma in the children of African ancestry, and contains a gene, DENND1B, that is expressed by natural killer cells – a critical component of the immune system. We now have a mature transnational program targeting the DENND1B gene as a promising avenue for treating asthma.