Grant: Project Grant

One cell out of four in the human body is a red blood cell (RBC), also known as erythrocyte. These RBCs play a critical role by carrying oxygen from the lungs to the organs, and carbon dioxide from the organs back to the lungs. Given their importance, it is not surprising that that defects in the production or function of RBCs can lead to severe, often life-threatening, diseases. In this project, we propose to study the genes that control RBC volume, an important determinant of many human blood disorders. By combining human genetic approaches (e.g. genome-wide association studies, next-generation DNA sequencing) and functional characterization methods (e.g. genome editing), we will identify the genes and biological pathways that control RBC volume. Our results could impact the prediction, prevention, and treatment of diseases like sickle cell disease and malaria, which affect millions of patients worldwide.