Evaluation of genome-editing approaches for sickle cell disease

Sickle cell disease (SCD) is a result of a single amino acid substitution in the beta-globin chain of adult hemoglobin. The severity of SCD is alleviated by the co-inheritance of mutations driving the expression of fetal gamma-globin in adults. Transplantation of autologous, genetically modified hematopoietic stem/progenitor cells (HSPC) represents a therapeutic option for SCD. The EU-funded EDITSCD project aims to understand the molecular and cellular mechanisms underlying SCD HSPC dysfunctions and evaluate the impact of genome editing approaches on SCD HSPC. The objective of this study is to improve the SCD gene therapy strategy and evaluate the best tools and protocols for HSPC-based genome editing therapies.