Gene therapy is a promising therapeutic option for a large number of otherwise untreatable human genetic diseases. The San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET) was created in 1995 in Milan as a joint-venture between the San Raffaele Scientific Institute and the Telethon Foundation for the implementation of basic, pre-clinical and clinical research for genetic diseases.
The mission of the Institute is to perform cutting edge science in the field of gene therapy and to promote the translation of basic discoveries into therapeutic advances. Since its beginning the Institute approach to gene therapy research has been disease-oriented. The genetic diseases, which are presently under investigation (from those in advanced clinical experimentation to those in early pre-clinical development) include primary immunodeficiencies, lysosomal storage disorders, type I diabetes, hemophilias, thalassemias, muscular dystrophies. In addition, a number of projects have the primary goal to improve gene transfer through:
a) design and validation of new improved vectors;
b) establishment of novel protocols to increase gene transfer efficiency;
c) in vivo characterization of transduced cells; and
d) modulation of immune responses to genetically modified cells and gene therapy products.
Gene transfer research is particularly focused on advancing the scope and exploring the potential applications of lentiviral vectors, a new gene transfer technology.
Furthermore, we have established a Pediatric Clinical Research Unit for the translation of basic research into the treatment of genetic diseases. The activity of this Unit focuses on the diagnosis, treatment and follow up of patients with primary immunodeficiencies and metabolic disorders, including those enrolled in the gene therapy trial for ADA-SCID. The clinical trial for this immunodeficiency has progressed from the initial studies of safety and feasibility to the recent demonstration that ADA gene transfer into human hematopoietic stem cells results in correction of the disease, with proven clinical benefit.