Earlier this month, PBS released the “The Gene Doctors.” The hour-long documentary follows the recent emergence of gene therapy as a novel method of treating rare diseases.
The film discusses how, in the recent past, there was less hope surrounding rare diseases. Each year, millions of people were born with a tiny mutation somewhere in the endless expanse of their DNA that carried devastating effects. In many cases, doctors could offer little more than a diagnosis. However, in recent years, the way scientists approach these genetic mutations have changed. They have found ways to use viruses to alter DNA. They can cure dogs of genetic forms of blindness, and are currently paving the way to cure humans of serious conditions.
The film focuses on Luxterna, a gene therapy by Spark Therapeutics, which treats a genetic form of blindness caused by a mutation on the RP E65 gene. It also covers emerging therapies for Duchenne muscular dystrophy (DMD), cystic fibrosis, and fatal familial insomnia. To learn more about RPE65-associated Leber Congenital Amaurosis (LCA), the condition Luxterna treats, click here. To read about DMD and cystic fibrosis, click here and here.
The timing of this documentary is hardly coincidental. Gene therapy is a hot topic in our culture today. It’s sparked a fiery debate. Opponents argue that it is unethical to modify the human genome, and that the permanent effects pose too large a risk. Proponents feel that it’s unethical to deny access to a treatment that could cure patients of their illness.
Gene therapy is also moving quickly through the FDA. Recently, an FDA advisory panel gave Luxterna an overwhelming vote of approval. Many expect the treatment to win full approval within the upcoming months. The FDA approved a gene therapy treatment for patients diagnosed with B-cell lymphoma last week, which follows another cancer gene therapy recently approved for pediatric leukemia.
Luxterna would be a landmark for gene therapy. While the other treatments alter genes in immune cells so that they can kill the cancer, Luxterna fixes mutated genes that were inherited at birth. The film demonstrates that the results have been promising so far.
While gene therapy has been an idea for a while, research was halted around 1999. After a devastating trial led to the death of Jesse Gelsinger, a young man with a liver disease, the practice became unpopular. Researchers were at the cusp of beginning to study the form of blindness in dogs that led to Luxterna.
The field has matured in the last 18 years, and has returned stronger. Over a thousand gene therapies are in development at the moment, and the way these next few years play out will affect what becomes of them.
