World Duchenne Awareness Day is dedicated to raising awareness of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy around the globe. It is celebrated every year on the seventh of September as a nod to the 79 exons of the DMD gene, in which mutations are known to cause DMD. This September 7, we’re launching a virtual red balloon at Vertex in solidarity with the DMD community and beyond.
As the lead executive for the DMD program, I’m part of the team working to develop genetic therapies aimed at treating the underlying cause of DMD. I’m hopeful that the results of our ongoing research may one day help patients with this devastating, relentlessly progressive disease. The possibility of potentially helping patients and their families is what drives the team to be passionate about our research and to bring our "A" game each and every day.
Did You Know?
DMD is the most common muscular dystrophy in children, primarily boys, and most people are wheelchair-bound by ages 12-15 and have a significantly decreased life expectancy due to heart and lung issues. There is currently no cure for DMD.
I’ve worked on rare neuromuscular diseases for many years, and when I had the opportunity to join Exonics (acquired by Vertex last year), I was eager to help advance the research of its founder, Dr. Eric Olson, and his laboratory at the University of Texas Southwestern Medical Center. The prospect of being part of a team working on the front line of genetic medicine was extremely exciting. Earlier this year, the entire Vertex team had the opportunity to hear from Eric at a virtual presentation. We learned that he describes his team’s work as exploring the “wonders of the biology of muscle” and that over the past 40 years, his group has been dedicated to discovering the genes that orchestrate the formation of each of the major muscle cell types (cardiac, skeletal, smooth). I also had a chance to discuss with him about his continued passion for research in DMD.
Q: When did you first become interested in science?
A: I was always interested in science. Even in grade school, I would go to the library after class and gravitate toward the science books and read about space exploration and nature. So, I never doubted that I would pursue a career in science, but I didn’t know what form that would take.
Q: What inspired your research?
A: The students and trainees in my lab who bet their careers on joining my team in Dallas are the greatest source of inspiration and the ideas that have driven everything forward. They made it happen. I was just the conductor of the orchestra.
Q: How has your research in DMD been shaped by your interactions with the patient community?
A: DMD is the one of the most severe diseases of muscles. Having spent my entire career working on muscle, it was inevitable that I would ultimately be drawn into research on DMD. When we conceived of a relatively straightforward strategy to correct diverse mutations that cause DMD using CRISPR gene editing, it was incumbent on us to test it and push it forward.
At the same time, I was inspired by a young man in my neighborhood named Ben who has DMD. Ben visited my lab many times and really galvanized our commitment to attacking this disease.
Q: What do you see in the future for those living with DMD?
A: I hope we will someday be able to provide a transformational therapy for these patients by addressing the genetic cause of the disease.
Interested in learning more about DMD or using your voice to raise awareness for World Duchenne Awareness Day? Here are a few ways you can get involved:
1. Post a photo with a red balloon to join the global digital balloon launch.
2. Together, we are stronger — watch and share the video.
3. Join the conversation using #WDAD2020.