In the 1970s, Dr. Stuart Orkin began researching how blood cells form with the aim of developing a 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 distant possibility. 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 future genetic-based therapies.
Fast forward nearly five decades and Orkin’s research has led to a major breakthrough in sickle cell treatment using CRISPR gene-editing technology. In December 2023, 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 there are still challenges that need to be addressed in making this life-changing therapy accessible to a larger population. 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 make genetic-based therapies more accessible and affordable for all those who need them.