The team is mainly focused on the development of efficient and safe gene editing techniques to treat rare genetic diseases in vivo and ex vivo.
The team’s researchers
Mario Amendola, PhD
Expertise: gene therapy, gene editing, viral vectors, expression of hematopoietic stem cells
The team’s projects
Current projects are focused on several themes:
- Develop new strategies to safely and efficiently integrate vectors and donor DNA using CRISPR-Cas9
- Correct diseases such as sickle cell anemia and beta-thalassemia by exploiting new CRISPR-Cas9 strategies to repair the causes of mutations
- Develop alternative ways to harness hematopoietic stem cells as a vehicle for gene therapy, thanks to the ability of their lineages to grow in many tissues, including the central nervous system
- Develop new gene therapy approaches for the treatment of coagulation problems, in particular hemophilia, and lysosomal metabolic diseases
- Develop new gene therapy approaches for the treatment of Duchenne muscular dystrophy
Among the team’s recent publications, a demonstration of the therapeutic potential of ex vivo gene editing in human hematopoietic cells for therapeutic protein expression.
- Pavani G., Fabiano A., Laurent M., Amor F., Cantelli E., Chalumeau A., Concordet J.P., Mavilio F., Ferrari G., Miccio A., Amendola M., Correction of β-thalassemia by CRISPR/Cas9 editing of the α-globin locus in human hematopoietic stem cells, Blood Advances, 2021 Mar 9;5(5):1137-1153
- Pavani G., Amendola M., Targeted gene delivery: where to land, Front. Genome Ed., 2021 Jan
- Pavani G., Laurent M., Fabiano A., Cantelli E., Sakkal A., Corre G., Lenting P.J., Concordet J.P., Toueille M., Miccio A., Amendola M., Ex vivo editing of human hematopoietic stem cells for erythroid expression of therapeutic proteins, Nat Commun., 2020 Aug 13;11(1):4146
- Lattanzi A., Meneghini V., Pavani G., Amor F., Antoniani C., Felix T., Lee C., Porteus M.H., Bao G., Amendola M., Mavilio F., Miccio A., Optimization of CRISPR/Cas9 Delivery to Human Hematopoietic Stem and Progenitor Cells for Therapeutic Genomic Rearrangements., Mol Ther., 2019 Jan 2;27(1):137-150
- Antoniani C., Meneghini V., Lattanzi A., Pavani G., Felix T., Amor F., Romano O., Magrin E., Weber L., Cradick T.J., Lundberg A.S., Porteus M, AmendolaM., Cavazzana M., Mavilio F., Miccio A., Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated disruption of the β-globin locus architecture, Blood. 2018 Apr 26;131(17):1960-1973.