At 16, she's a pioneer in the fight to cure sickle cell disease

With a teenage girl at the center of their research, scientists are pinning their hopes for curing sickle cell disease on the relatively new field of stem cell medicine. The genetic condition, which disproportionately affects people of color, is characterized by debilitating pain, organ damage, and early death.

With a teenage girl at the center of their research, scientists are pinning their hopes for curing sickle cell disease on the relatively new field of stem cell medicine. The genetic condition, which disproportionately affects people of color, is characterized by debilitating pain, organ damage, and early death. While the search for a cure—or at least better disease management—has been underway for decades, efforts are underfunded and progress is slow. However, Stuart Orkin, MD, and colleagues at Boston Children's Hospital believe they may be on track for a major breakthrough. Sickle cell is caused by misshapen red blood cells that get stuck in veins and arteries, where they block the flow of blood and oxygen, but doctors believe they can trick the body into producing healthy blood cells using a patient's own genetically modified bone marrow. A 16-year-old girl is the youngest ever to undergo the procedure, with favorable results so far. Her hemoglobin level has reached a near-normal level, and she shows no signs of her disease. It will take years, however, to determine whether the strategy truly works. If it does, Orkin's plan is to develop an affordable oral medication that duplicate the effects of the gene therapy.