Sickle cell disease is the most common genetic disease worldwide and is caused by a point mutation in the gene coding for the adult hemoglobin β-chain. So far, the only curative treatment is represented by transplantation of normal hematopoietic stem cells from compatible donors that, however, are available only to a fraction of the patients. Gene therapy approaches aimed at correcting patient hematopoietic stem cells represent a valuable alternative therapeutic strategy.
Patients with linked mutations that trigger elevated g-globin expression, which are normally expressed only during fetal life, experience a more benign clinical course of the disease. The aim of this project is to develop novel lentiviral- and genome editing-based approaches aimed to: (i) deliver into patient cells an optimized therapeutic g-globin-like gene; (ii) reactivate endogenous g-globin expression. Evaluation of the efficacy and safety of these approaches will be performed to select the best therapeutic strategy for sickle cell disease.
Institut Imagine, DIM