Nearly half a century ago, Dr. Stuart Orkin began researching how blood cells form with the goal of developing a groundbreaking treatment for sickle cell disease. At the time, genetic cloning was a new technology that sparked discussions about potentially fixing genetic diseases, although the concept seemed like a far-off fantasy. Orkin decided to focus on the hemoglobin gene, which is mutated in individuals with sickle cell anemia and beta thalassemia, as understanding these diseases could pave the way for genetic-based therapies in the future.
Fast forward to December 2023, and Orkin’s research has led to a major breakthrough in sickle cell treatment using CRISPR gene-editing technology. The FDA approved the first gene therapy for sickle cell, which involves reactivating the production of healthy fetal hemoglobin in patients. This innovative procedure can potentially cure individuals of sickle cell disease, alleviating painful episodes and reducing the need for regular blood transfusions.
Despite this milestone achievement, Orkin recognizes that the current gene therapy is expensive, invasive, and inaccessible to many sickle cell patients worldwide. He is now focused on developing a more accessible treatment option by finding a way to trigger fetal hemoglobin production with a pill. Although this goal is ambitious, Orkin remains determined to continue his research and address the challenges that still exist in making this life-changing therapy available to a larger population.