Rare Disease Report

PBS Documentary Gene Doctors Explores Rare Diseases

OCTOBER 02, 2017
James Radke
Today, PBS’s 1-hour documentary The Gene Doctors is being released.

The film explores scientific breakthroughs that are transforming the lives of people with rare genetic conditions. The drugs being developed are not treating the symptoms of a disease, but are changing the course of the disease. As of today, the film is available to stream on PBS.org/genedoctors. It will be broadcasted and syndicated on local PBS stations. The trailer for the film is shown at the bottom of this article.

One of the segments covered in the documentary is focused on Duchenne muscular dystrophy (DMD) and the recent approval of Exondys 51 (eteplirsen), an exon-skipping therapy that helps a portion of patients with the disorder.  Among the people interviewed in the segment were Janet Woodcock, M.D., director of the Center for Drug Evaluation and Research (CDER) at the Food and Drug Administration (FDA); Edward McKay, former chief executive officer of Sarepta Therapeutics; Austin and Max, 2 teen brothers with DMD, and their mother, Jen McNary. All 5 people were instrumental in getting the drug approved.

The PBS film crew followed the McNary family during the process to better show how a patient’s input can help the FDA understand how orphan drugs designed to change the physiology of people with a genetic disease actually are changing their lives.

On the eve of the documentary’s release, Rare Disease Report  spoke with Jen McNary about her involvement in The Gene Doctors as the PBS crew followed her family during the drug review process, including their participation in the public forum during the Advisory Committee meeting at the FDA.

Rare Disease Report: Can you briefly describe your family’s history with DMD?
McNary: Austin and Max, my oldest of 4 kids, have Duchenne muscular dystrophy.  They were diagnosed when Austin was 3 years old and Max was 3 months old. They both have a deletion on exon 52. When Max was 9½, 6 years ago, he was enrolled in Sarepta’s trial for eteplirsen and to make a long story short, we noticed the drug was working and developed a campaign to basically petition for expanded access or accelerated approval. And 2 years ago, Austin was also allowed in a safety trial for non-ambulatory kids.

We were also part of the Advisory Committee meeting last year and it was approved last September. Now, my boys are both still on drugs.  Max, the 15½ year old is still walking and Austin, the 18½ year old is still doing his normal activities of daily living and is in college.

RDR: What do you hope the documentary will provide?
McNary: We've been in several documentaries and the difference between those and this 1 is that this time they're focusing on the science and they're focusing on what a breakthrough this type of science is. I hope that it's useful and helpful to see this kind of thing in the mainstream media so that insurance companies and the general public understand this isn't just some expensive marginally useful drug. This is the drug that changes the course of the disease.

RDR: Are DMD families still have difficulty obtaining Exondys 51?
McNary: I was just in Oregon fighting with Oregon Medicaid because they have patients that want to use the drug  —  3 of them in Oregon — and they keep creating a policy or their work is creating a policy against the drug. It is an expensive drug and there are definitely quite a few companies that don't want to cover it but there are also quite a few companies that are covering it.  So it’s sort of an educational process. Hopefully, the documentary will help in that education.


In addition to DMD, rare diseases examined in the documentary include leber congenital amaurosis, cystic fibrosis, and fatal familial insomnia.
A two-minute trailer of the Gene Doctors can be seen below:

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