Chack-Yung Yu, DPhil, Columbus Children’s Research Institute

"Gene Copy Number Variations as Disease Risk and Severity Factors of Human SLE"

2007 Novel Pilot Projects Program

Lupus is a disease caused by numerous factors. About half of those factors are heritable. We have discovered a new genetic mechanism that causes subtle differences among different human individuals. For some immune defense genes, we have different copy-numbers of those genes among us. This phenomenon has escaped the attention of scientists until recently. We propose to identify and characterize genes with copy-number variations, and to figure out their roles in causing the lupus disease, particularly those with kidney problems. This pilot project is likely to offer new breakthrough information important for diagnosis and treatment of lupus.