Genome editing approaches for beta-hemoglobinopathies
Beta-hemoglobinopathies are caused by mutations affecting adult hemoglobin β-chain production. The only curative treatment is allogenic hematopoietic stem/progenitor cells (HSPCs) transplantation, an approach limited by compatible donor availability and immunological complications. Therefore, transplantation of autologous, genetically modified HSPCs is an attractive therapeutic option. However, current gene therapy strategies based on the use of lentiviral vectors or CRISPR/Cas9 nuclease are not equally effective in all the patients and/or raise safety concerns. Base editing is a CRISPR/Cas9-based genome editing technology that allows the introduction of point mutations in the DNA without generating dangerous double strand breaks. Dr. Miccio will discuss base editing strategies aiming either to correct the genetic defect or target disease modifiers in patient cells and provide a safe and effective treatment for β-hemoglobinopathies.