Tissue Preservation and Biobanking

The discovery of methods to convert somatic cells into induced pluripotent stem cells (iPSC) is probably one of the most revolutionizing breakthroughs in Regenerative Medicine within the last decade. iPSC are functionally equivalent to Embryonic Stem Cells (ESC) and have the ability, defined as Pluripotency, to generate any cell type of the adult body. Unlike ESC though, iPSC can be derived from the tissues of any individual, raising the possibility of producing custom-tailored cells for the study and treatment of virtually any disease. Furthermore, they are amenable to genetic manipulations, including

homologous recombination (HR), which allows the in situ correction of the disease-causing mutation and avoids several safety risks associated with conventional vector-based gene therapy involving random integration such as non physiological gene expression and cancer formation. Although these prospects are exciting, several hurdles are associated with iPSC technology.

Questions arise about the safety of the reprogramming and gene targeting methodologies, which involve extended culture periods, differentiation efficiency, and quality of iPSC-derived cells. These questions need to be answered before translation of iPSC-based technologies to the clinic. Research in the Sebastiano lab focuses on all aspects of this technology, spanning

from nuclear reprogramming, to genome editing and in vitro differentiation. The ultimate goal of the lab is to develop clinical therapeutics using patients-specific iPSCs, by both modeling genetic and developmental disorders in vitro and by developing stem cell therapies that will be soon utilized in the clinic. Proof of principle studies and data on Epidermolysis Bullosa and DiGeorge Syndrome will be presented and discussed.