DR. T. V. PADMA
Despite advances in treatment, sickle cell disease still causes incalculable suffering and premature death.
In low-income nations, sickle cell disease is still a deadly killer, and few patients survive childhood. The ultimate goal of research into sickle cell disease is a cure. Scores of researchers are currently working on developing methods to achieve this goal. Scientists are also working to promote awareness, early detection and better treatment. Currently, patients usually receive treatment for their symptoms, not a cure for their disease. The race for a cure focuses on these areas: the development of anti-sickling agents, bone marrow transplantation, gene therapy and turning on genes that increase the production of foetal haemoglobin.
The goal of gene therapy is to insert a gene for normal haemoglobin into the cells of people with the abnormal gene. Work on a genetic cure began in 1979. Many thought that sickle cell disease would be the first genetic disease to be cured by gene therapy, but there are substantial challenges. Twenty years after the work began, scientists finally began to get some positive results. Michael Sadelain of the Memorial Sloan Kettering Cancer Institute was one of them. He used gene therapy to correct a genetic haemoglobin disorder in mice. In 2001, Philippe Leboulch at the Massachusetts Institute of Technology, successfully corrected sickle cell disease in mice, using an anti-sickling gene.