Functional Annotation of Genetic Variants Contributing to Immune Mediated Diseases

Funded Through:

Lorem ipsum dolor sit amet, consectetur adipiscing elit. Curabitur blandit laoreet fring Vestibulum luctus dignissim eros vitae suscipit. Nullam feug iat luctus ligula nec dignis sim. Curabitur eget faucibus metus.

Immune-mediated diseases (IMDs) are characterized by misregulation of the immune system resulting in tissue and organ damage. IMDs such as rheumatoid arthritis, ankylosing spondylitis, and lupus are chronic and significantly impact the quality of life for affected individuals. Genome-wide association studies have identified common changes in regions of DNA in individuals with IMDs. Many of these changes have been found in regulatory regions of DNA called enhancers which regulate the expression of specific genes. Because enhancers often regulate the expression of genes that are very far from them, it has been challenging to predict the functional impact of DNA variants within these regions. Using high-throughput genetic technologies developed in her lab, Dr. Barr will determine the functional impact of DNA variants in enhancers by assessing how variants affect enhancer activity, and ultimately gene expression. This work will provide insight into which genes are affected, which is crucial to understanding the genetic basis of IMDs, identifying risk factors, and forming the basis for new treatments.