Paper of the field n°1
Click to read the latest paper on therapeutic reactivation of fetal hemoglobin expression by base-editing!
Abstract for General public
Sickle cell disease and β-thalassemia are two inherited blood disorders that affect the production of adult hemoglobin, resulting in significant health challenges for individuals affected by these conditions. However, recent breakthroughs in gene editing techniques offer promising solutions for treating these diseases. Scientists have discovered that certain mutations in the DNA, can increase the production of fetal hemoglobin, which helps alleviate the symptoms of these blood disorders. Building on this knowledge, researchers have used a technique called base editing to introduce targeted DNA mutations, effectively reactivating the production of fetal hemoglobin. Base editing was successfully applied to patient stem cells, demonstrating that this approach is both safe and effective. By precisely modifying the genetic information, they were able to enhance fetal hemoglobin production and rescue the abnormal blood cell characteristics associated with these disorders. Compared to previous gene editing methods, base editing offers advantages by avoiding unwanted genetic changes and resulting in higher levels of fetal hemoglobin. These findings represent a significant step forward in the development of a universal therapeutic strategy for both sickle cell disease and β-thalassemia. With further advancements, these techniques could provide hope and improved quality of life for individuals living with these challenging conditions.
Abstract written by Panagiotis Antoniou from Astrazeneca (Sweden)
Antoniou, Panagiotis, et al. « Base-Editing-Mediated Dissection of a γ-Globin Cis-Regulatory Element for the Therapeutic Reactivation of Fetal Hemoglobin Expression ».
Nature Communications, vol. 13, no 1, novembre 2022, p. 6618. https://doi.org/10.1038/s41467-022-34493-1