Gene Replacement Therapy

one-time "Forever Fix"

What is a Gene?

Most of us have heard the word "gene". We are made of genes and collectively they make us what we are. Half of your genes come from your mother, and the other half come from your father. These genes give us characteristics, like curly hair, green eyes or big feet. Other genes make us have certain diseases, like breast cancer, high cholesterol or blindness.

Diseases often occur due to a faulty or missing gene. One way to cure these diseases is to go after that gene, particularly trying to replace or alter it.

What is Gene Replacement Therapy?

Diseases can be present from birth when someone is born with a defective or missing gene. Alternatively, someone can develop diseases during adult life due to a gene mutation or change, which can disrupt correct protein production. Gene therapy is an innovative process that involves the introduction of a gene into cells to compensate for a missing or defective form of a gene. It can also be used to knock-out a gene that isn't functioning correctly. This gene is inserted into a patient's cells through a vector, which is genetically engineered to be able to carry and deliver the gene into cells. If the gene injection is successful, the new gene can replace a disease-causing gene, help the body fight a disease, or turn off a gene causing problems. Therefore, this method can be used as an alternative to drugs and/or surgery, in order to treat, cure, or even prevent different diseases and medical conditions.

The gene called AGA is not working in a body of a child who has AGU. This means that their body is not producing an important cellular enzyme. Gene replacement therapy (GT) can be used to deliver the enzyme to the human body. It is a long and expensive process to develop a successful treatment. While working on GT, we funded the development of a Chaperone therapy. This keeps the children with AGU healthy and stops the progression of disease deterioration.