Gene Therapy is the introduction of genetic material into host cells with the goal of treating or curing disease. Many diseases are caused by “damaged” genes that result in a deficiency in an essential protein. Introducing the correct gene to the patient allows the patient’s own body to produce the missing protein and treat the disease. AGTC’s research efforts focus on the use of Adeno-Associated Virus (AAV) as the vehicle to deliver genes to human cells.

AAV is a small, stable virus that has never been shown to cause disease in humans even though the majority of the population has been exposed. The wild-type virus has only two genes and cannot replicate itself without helper functions provided by another virus. To produce a vector to treat a specific disease, the viral genes are removed and replaced with a specific therapeutic gene. In some cases a regulator, which can turn the protein expression on or off, and/or a promoter to enhance expression of the protein in a specific tissue type, are also inserted into the virus.

AAV is an ideal virus to use as the vehicle for gene transfer because:

• AAV is a simple, easily manipulated virus
• AAV can deliver genes to both dividing and non-dividing cells
• AAV can deliver genes to a wide variety of tissue types from muscle to brain
• AAV has never been shown to cause disease
• AAV elicits only weak immunologic responses
• AAV allows expression of proteins in the host cells for
  long periods of time without integration into the host cell DNA.