The SC CTSI funded research to identify ethnic variations in genetic mutations of factor VIII, a protein involved in blood clotting, which functions improperly in people with hemophilia A. Therapy for hemophilia involves infusing patients with replacement factor VIII protein, the structure of which varies across ethnicities. Past research has shown that use of factor VIII in non-white hemophiliacs can lead to immune reactions that block the effectiveness of the treatments. Studying Native American hemophilia patients, researchers in this project found a genetic locus that may modulate the immune response to factor VIII replacement therapy for hemophilia A. This finding may help predict who will get immune reactions with standard therapy and, thus, who will required a modified treatment approach. The research, which was recently featured in the Science-Business eXchange, was led by co-investigators Tom E. Howard, MD, PhD, of Veterans Affairs Greater Los Angeles Healthcare System and faculty volunteer at Keck School of Medicine of USC, and Howard A. Liebman, MD, professor of medicine, Keck School of Medicine of USC. It has also led to several publications in high-impact scientific journals, as well as Small Business Innovation Research grants from the NIH.

NIH Funding Acknowledgment: Important - All publications resulting from the utilization of SC CTSI resources are required to credit the SC CTSI grant by including the NIH funding acknowledgment and must comply with the NIH Public Access Policy.