$3 million prize goes to duo whose research led to first sickle cell CRISPR therapy

Key Points:

• Dr. Swee Lay Thein and Dr. Stuart H. Orkin won the $3 million Breakthrough Prize in Life Sciences for their research leading to Casgevy, the first approved gene therapy using CRISPR to treat sickle cell disease and beta-thalassemia.
• Casgevy works by disabling the BCL11A gene repressor, which normally turns off fetal hemoglobin production, allowing patients to produce fetal hemoglobin and effectively cure the blood disorders.
• The treatment involves extracting, editing, and reinfusing a patient’s bone marrow cells, but it is costly, physically demanding, and not widely accessible, especially in regions where these diseases are most prevalent.
• Researchers are exploring in vivo gene-editing methods to simplify treatment by injecting gene-editing tools directly into patients, aiming to make therapy more accessible and less invasive.
• Additional therapies, such as the drug Mitavipat, are being studied to improve red blood cell health and provide more affordable and manageable treatment options for sickle cell disease patients.