Stem Cell Laboratory is particularly dedicated to research for an innovative therapeutical approach for Duchenne muscular dystrophy, by using a combination of stem cell and gene therapy.
Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy due to mutations in the dystrophin gene that causes severe muscle damage. A reasonable strategy to treat DMD, that still has no cure at present, is to induce muscle regeneration by stem cell transplantation, exploiting their regenerative potential. Stem cells to be transplanted can be isolated either from a healthy donor or from the same patient: whereas in the first case they have to be injected under an immunosuppression regimen, with consequent eventual adverse effects, the autologous transplantation allows to isolate the same patients’s cells and to inject them after genetic correction. The exon skipping technique is a valid option for stem cell engineering finalized to the rescue of dystrophin expression.
Within commitment towards DMD, our group has focused on a specific stem cell population expressing CD133 antigen, a typical marker expressed in hematopoietic stem cells. Myogenic potential of these cells has been validated by both in vitro and vivo experiments, through the use of dystrophic animal models (scid/mdx mice and GRMD dogs).
We managed a clinical study for the safety evaluation of transplanted CD133 stem cells in dystrophic tissues and the positive outcomes have led to a confirmation of their employment for muscle regeneration. We have also conducted preclinical tests on canine models of DMD, the most reliable animal model of dystrophy, for the evaluation of a combined approach mixing cell and gene therapy, which have shown promising results for future clinical applications in humans.
An experimental research section of our Laboratory is strictly linked to the unit of Neurosurgery of the Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico: within this collaboration, we are involved in research oriented to cancer stem cells characterization and therapeutical solutions for glioblastoma, as well as in the study of epithelial stem cells as a potential treatment for spinal cord and nerve injuries.
Among Lab activities, we are involved in different bioengineering projects aimed at the combination of stem cells and bioscaffolds for reaching excellent proliferation and differentiation conditions after in vivo applications for the treatment of neuromuscular and neurodegenerative disorders.