“The DMD community is so incredibly strong and resilient, but they are still waiting for treatment options and waiting isn’t kind to progressive diseases,” -D’anna Nelson, Gene Editing Research Scientist at Vertex Pharmaceuticals.
Duchenne muscular dystrophy (DMD), a disease that primarily affects boys, is caused by a mutation in the DMD gene on the X chromosome. It affects skeletal, respiratory and heart muscles and ultimately leads to progressive muscle weakness, breathing issues and abnormal heart function. There is currently no cure for DMD, and available treatments focus on improving function and quality of life.
Each September, Vertex recognizes World Duchenne Awareness Day (Sept. 7) and Duchenne Action Month in order to raise awareness around this devastating disease and for the patients and their families who are living with it every single day. That’s why it’s exciting to join the World Duchenne Organization (WDO) in their 2022 recognition, themed around “Women and Duchenne.” While the genetics of the disease means it primarily affects boys, this year, WDO is shining a light on the mothers, female family members, caregivers, female carriers of the DMD mutation and female scientists pursuing treatments for DMD.
Here at Vertex, the women in Duchenne are the scientists and researchers who spend each and every day working toward a potential treatment for the underlying cause of DMD. These women are inspired by patients' stories, each other and a desire to change lives.
These women not only want to work toward a potential treatment for DMD, but also emphasize the need for more awareness around the disease itself. Awareness will bring more resources and education not only to those living with this disease but also to parents and caregivers who are fighting it right alongside them. “Rare diseases like DMD can be very isolating. Speaking up and educating on disease awareness can better inform and guide health care decision-making with meaningful patient impact,” said Adriana Boateng-Kuffour, Associate Director on the Health Economics and Outcomes Research team. Jinpu Yang, a Senior Manager working in Analytical Development, agreed with this sentiment, stating that “raising awareness for DMD is important for people with DMD and their caregivers to find support for disease education, diagnosis, management, and most importantly, therapeutic development.”
As they shared their inspirations with us, they also hope to inspire the next generation of women in science. “It’s always important to remember that you can do it! There will be people who make you think that you can’t. It’s essential to believe in yourself and find the mentors and people around you who build you up and help you on this journey,” said Lauren Kett, Associate Medical Director in Clinical Development.
Read more from these inspiring women and hear their thoughts around DMD and what working in the program means to them.
D’anna Nelson, Ph.D.
“I love the drive and momentum my colleagues have to find a potential treatment for DMD. Every goal and decision connects back to hopefully finding a solution for patients.”
D’anna joined her first DMD lab while pursuing her Ph.D., because she saw it as an intriguing area where therapeutic developments were gaining momentum. As she began learning about DMD, she was struck by conversations with patients and families asking her to “please keep working on the science.” This message stayed top of mind and led her to Vertex to join the DMD research team. In her role as a Gene Editing Research Scientist, she works to create new gene-editing technologies that may be applied to potential treatments for DMD and examines already existing methods to identify opportunities for improvement or potential hurdles ahead.
LiNa Loo, Ph.D.
“There is no guidebook to steer us through this process and everything is possible. The sky is the limit, and we have to be creative in utilizing our past experiences and applying them to this disease.”
LiNa is a Director of Bioanalytical Development focused on Vertex's DMD program. In this role, she helps analyze research data to inform key findings for the team, which helps them make decisions on how to steer their research forward. She loves being one of the first people who gets to learn and understand the data captured in the lab. No matter the outcome, each data point represents another step toward the development of a potential treatment.
Jinpu Yang, Ph.D.
“It is a once-in-a-lifetime opportunity for a scientist to be part of this journey bringing decades of research and innovation to the clinic and hopefully change patient’s life.”
Jinpu works in Analytical Development for the DMD program as a Senior Manager. Here, she and her team work to develop molecular assays (investigative procedures or experiments) to test the different components that make up Vertex’s potential treatment approach. Jinpu loves that the fast-paced nature of her job keeps her on her toes and is excited by her work despite the complexities that come with drug development. She cites her work as a once-in-a-lifetime opportunity and is constantly inspired by the science she sees each day.
Lauren Kett, M.D.
“DMD doesn’t only affect the patients but has a ripple effect through their entire community. Since it’s mainly a pediatric population, it’s important to understand the effect the diagnosis has on parents and caregivers as well.”
Lauren, the Associate Medical Director in Clinical Development, joined Vertex in May 2022 after working in academia as a full-time physician. She was drawn to Vertex’s DMD program given her training in neuromuscular medicine and her long-term interest and background knowledge in muscular dystrophies. Currently, she is working behind-the scenes to design a future clinical trial. Lauren is inspired by the collaborative nature of her job and cites her and her team’s desire to change lives as the reason she is excited to get up and come to work each day.
Adriana Boateng-Kuffour, MS, MPH
“I am a mother of two boys, and I can’t imagine either of them being diagnosed with a rare illness such as DMD or the associated burden that caregivers endure due to the illness. Working on this program means that I can hopefully help bring smiles to patients and parents across the globe.”
Adriana works in Health Economics and Outcomes Research (HEOR) as an Associate Director. In HEOR, the value of new therapies is assessed to inform health care decision-making. Adriana was initially drawn to Vertex due to her desire to be a part of research that could potentially change patients' lives, as inspired by a family history of sickle cell disease and diabetes. In her one and a half years at Vertex, Adriana has stayed motivated, constantly driven by the thought that one day, DMD could potentially be a more manageable illness.
Thank you to the women above for helping us highlight the need to raise awareness for DMD and to all women in the DMD program here at Vertex for working day in and day out in hopes of potential change. This September, join us in recognizing Duchenne Action Month by taking the time to research and learn more about this disease, the people and the advocacy efforts.