Tomorrow is World Duchenne Awareness Day, which aims to raise awareness for people living with Duchenne muscular dystrophy. In advance, we’re sharing some of the work being done by America’s biopharmaceutical researchers in an effort to develop new treatments for this disease.
Daily Discoveries. Growing up with a father who taught biology, Dr. Jane Owens developed a fascination with the human body early on. “My dad’s interest rubbed off on me,” she says about her decision to pursue research. Additionally, Dr. Owens spent several years of her childhood in Africa. Seeing the huge unmet needs of malaria and HIV victims instilled a desire to develop medicines for “people that have no option to treat their disease.”
After obtaining an undergraduate degree in biological sciences, Dr. Owens studied osteoporosis as part of her Ph.D. work at the University of London. Eventually, this led to a role at Pfizer researching treatments for Duchenne muscular dystrophy, a rare genetic disease for which there currently are limited treatment options. Today, Dr. Owens is a senior director who manages rare muscle disease research projects in Pfizer’s Rare Disease Research Unit.
Research Snapshot. Duchenne muscular dystrophy (DMD) is a genetic condition that results in an inability to produce the protein dystrophin, which is essential for skeletal and heart muscle function. Without dystrophin, the muscles cannot contract properly, and eventually the muscle cells begin to die. Over time, this results in patients losing the ability to walk, and ultimately, the heart and muscles required for breathing stop functioning. The average life expectancy of a DMD patient is 26 years.
“We’ve seen an immense body of research move forward into clinical trials in the last 10 years,” Dr. Owens says. “These trials are testing compounds which may treat the symptoms of DMD and also target the actual genetic mutation in DMD.”
The Driving Force. Since helping to start Pfizer’s Rare Disease Research Unit in 2010, Dr. Owens and her team’s primary focus has been to develop more effective therapies for DMD, including gene therapy. In this case, the gene therapy attempts to replace the missing dystrophin protein in patients’ muscles to prevent muscle degeneration and the associated loss of muscle function.
Challenges, Chance and Looking Forward. The drug development process is fraught with the risk of failure, and a biopharmaceutical researcher like Dr. Owens must be able to withstand the highs and lows that are part of this process. When she and her team encounter an obstacle or setback, she reminds herself that these challenges are all part of a process that has resulted in many advances in the last decade.
"If you had told me 10 years ago what would be possible today, I wouldn’t have believed you," says Dr. Owens. "It's essential to take the setbacks in stride and keep a focus on good science."
Even more so, it’s the patients who keep her going.
“Through Pfizer’s patient advocacy efforts, we have had the privilege of meeting patients face to face, and it’s been incredibly motivating to me and my team of scientists,” she says. “What gets me up in the morning is the idea that there are boys with DMD out there that are waiting, and every minute counts.”