Gene Transfer Strategy Used to Treat Tay - Sachs Disease (2005), by Sabata Martino’s Research Group
In the early 2000s, Sabata Martino and a team of researchers in Italy and Germany showed that they could reduce the symptoms of Tay-Sachs in afflicted mice by injecting them with a virus that infected their cells with a gene they lacked. Tay-Sachs disease is a fatal degenerative disorder that occurs in infants and causes rapid motor and mental impairment, leading to death at the ages of three to five. In gene therapy, researchers insert normal genes into cells that have missing or defective genes in order to correct genetic disorders. The team created a virus that coded for a specific gene missing in mice with Tay-Sachs. That missing gene is called hexosaminidase subunit alpha (HEXA). Martino and the team injected the virus into the brains of mice with Tay-Sachs in attempt to restore Hexa enzymatic function in the brain and spinal cord (central nervous system).