“It did seem incrediable that this one-letter change could be so dangerous,” says Sonia Vallabh, a young Massachusetts woman.
The letter is one of billions that make up her DNA, and the change is a typo that she inherited. In her mother, this mutation caused a brain disease that took her life. Sonia is likely to die in her 50s of the same hereditary illness unless a cure is discovered.
Every year, over a million babies are born worldwide with one of many diseases caused by a single error in one of our many genes. Most of these illnesses are serious, and many are fatal.
For most of the history of medicine, all that doctors could do was treat symptoms. Then researchers began to take aim at the root causes of genetic diseases, but the quest has been long, difficult, and punctuated by tragedy. Now, an elite cadre of pioneers—call them gene doctors—is starting to win battles.
Through intimate stories of families whose lives are being transformed, The Gene Doctors takes viewers to the frontlines of a medical revolution.
When Molly Troxel was a toddler, her parents noticed her fascination with bright objects. It was a sign of a rare genetic eye disease. By age five, Molly was legally blind.
After a long wait to join a clinical trial, she received a correct copy of her faulty gene. The therapy worked, arresting Molly’s disease and even improving her vision. This treatment could soon become the first approved gene therapy in the U.S.
Jenn McNary noticed that her young son Austin was unusually clumsy. Tests revealed that he had muscular dystrophy. Worse news followed: Jenn’s other son, Max, had the same genetic error. Few such patients live beyond their 20s.
McNary was able to enroll her sons in clinical trials of an entirely new type of drug that guides patients’ cells to skip over the disease-causing genetic typo. McNary is convinced that her boys are seeing a benefit. The FDA provisionally approved the drug in 2016.
Growing up, Kimberly Ramirez spent almost every Christmas in the hosptial. She has cystic fibrosis, the most common fatal genetic disease in the U.S. As her doctors considered a lung transplant, she started taking a new first-in-class drug designed to repair not her faulty gene, but a faulty molecule produced by that gene.
“Right away things started to change,” Kimberly says. “It felt amazing that just this small pill would change everything.” She is now looking forward to a healthy, normal life.
Today’s treatments are just the first wave. A revolutionary new technology called CRISPR promises the power to edit faulty genes letter by letter.
For Sonia Vallabh, no treatment is near. Casting aside her career and Harvard Law degree, she is finishing a PhD in biology, with the hope of joining the ranks of gene doctors and contributing to her own cure. It’s an ambitious goal, but one that may be coming within reach in this new age of genetic medicine.