The Manton Center for Orphan Disease Research
David Williams, MD
Gene-therapy for Sickle Cells Anemia and Thalassemia: A Translational Study
Disorders caused by abnormal hemoglobin, the protein responsible for oxygen transport in the body, represent a major health challenge. In fact, humans with disorders like sickle cell anemia suffer from considerable reduction in their quality of life and global life expectancy. Currently, no cure exists for patients with these disorders outside of bone marrow transplantation, which can cause severe side-effects and is responsible for a high mortality risk. With our study, we will investigate whether we can increase the presence of fetal hemoglobin (called gamma-globin), which usually is present in prenatal life, and decrease the abnormal hemoglobin concentration by acting on a protein called BCL11A. This protein has been involved in the switching from the prenatal (gamma-) globin to adult-life (beta-) globin. We will influence BCL11A levels by using gene therapy. We seek to determine whether this intervention causes the desired globin switch without significant toxicity to cells. Gene-therapy could be an innovative way to cure children and adults with abnormal hemoglobins, and constitute a model for other rare and orphan diseases.