At Vertex Pharmaceuticals, we recognize Rare Disease Week and Rare Disease Day® at the end of February every year, but our commitment to patients is on our minds and hearts every day of the year. This isn’t an exaggeration. It’s part of our mission, and it’s what drives Vertexians to work as hard as we can — every day.
While we don’t work only on rare diseases, many of the diseases in our pipeline are considered “rare.” These include alpha-1 antitrypsin deficiency, APOL1-mediated kidney diseases, beta thalassemia, cystic fibrosis (CF), Duchenne muscular dystrophy (DMD) and sickle cell disease (SCD). While they are classified as rare diseases because of the total number of people diagnosed with them, they may not sound “rare” to you if you know someone in your family or community who is impacted by one of them.
Every year though, we do take this opportunity to engage with the rare disease community, reinforce our commitment to each patient, and learn from the patients themselves about what their experiences with the diseases are like. While many of us are still working remotely, we were pleased to host two inspiring virtual events that Vertex employees across the globe attended.
Our first event focused on DMD. We welcomed Tracy Seckler, Co-founder and Chief Visionary Officer at Charley’s Fund for a fireside chat with Brian Tseng, Vice President of Clinical Development for DMD at Vertex. Named after Tracy’s son Charley (who lives with DMD), Charley’s Fund is a nonprofit organization that aims to accelerate the development of life-saving treatments for the disease. It was so great to hear their family's story and learn more about what’s important to the community.
Our second event was a panel discussion: “Healthcare Disparities and Rare Diseases.” We were honored to be joined by Linda Blount, President and CEO of the Black Women’s Health Imperative and steering committee member of the Rare Disease Diversity Coalition (RDDC); Terry Wright, President and Founder of the National Organization of African Americans with Cystic Fibrosis (NOAACF) and a 58-year-old African American man living with CF who was not diagnosed until the age of 54; and Terry’s wife Dr. Michele Wright, an award-winning author, speaker and success expert. This event, which was co-sponsored by our VIBE (Vertex Includes Boundless Ethnicities) employee resource network, was a fitting way to amplify Black voices during Rare Disease Week and Black History Month. We’re proud to be a founding sponsor of the RDDC, whose aim is to identify and advocate for evidence-based solutions to alleviate the disproportionate burden of rare diseases on communities of color.
I always appreciate the opportunity to hear from and speak directly with patients outside of Vertex. We also have a wonderful community of dedicated Vertexians who all have their own reasons for coming to work every day and who are passionate about spreading awareness for the rare diseases we work on. One such scientist is Crew Smith, a Senior Research Scientist on our Cell and Molecular Biology team, who has been working on our SCD program for four years.
Crew knew she wanted to help people with SCD from a young age, and she even wrote about it in her college admissions essay. While she initially thought about pursuing a career as a genetic counselor, instead she found research, or as she likes to put it, research found her.
She joined Vertex after earning her Ph.D. in cell biology from Yale University and a postdoc in Dr. Stuart Orkin’s lab at the Dana-Farber Cancer Institute and Boston Children’s Hospital. She was recognized as one of Stat’s 2017 Wunderkinds, and recently, she’s taken on the ambitious role of biology lead for our small molecule approach to potentially treat SCD, which is both a personal achievement and continued confirmation of Vertex’s commitment to a portfolio approach to tackling a disease. I had a chance to ask Crew a few questions about her work and her hope for the future of SCD.
Q: What is one surprise or learning you’d like to share about your experience working on the SCD program?
Crew: I didn’t realize how rare it was until I became a researcher in the field. When I was growing up, I knew more people who had SCD than I did who had cancer. Although the number of patients may be relatively small, the impact that a disease has on an individual, a family and a community is just as relevant and devastating as diseases that may affect larger patient populations.
Q: What motivates you to work on and recognize SCD?
Crew: Since middle school I wanted to help people with SCD because I was convinced that it could be solved if enough people were invested and committed to it. While I was a little naïve in that thinking, SCD research has been given new life in the last 20 years. I saw the potential in the basic scientific discoveries that I was part of six years ago in my prior roles, and it means a lot to me now to be able to contribute to exciting science and help move SCD research forward. Success is a huge motivator and I hope to be part of many more opportunities to affect this type of change in someone’s life.
Q: Looking to the future, what are your hopes for those living with SCD?
Crew: It’s funny, I was actually at a doctor’s appointment for my youngest child recently, and I was talking with the pediatrician about SCD. He hadn’t treated a sickle cell patient since 1989, and he was concerned he wouldn’t even know where to begin. My hope is that a positive result for SCD on a newborn screening test does not result in panic, that it is something that can be managed or maybe someday cured.
For Vertex, celebrating Rare Disease Week and Rare Disease Day is just one way we can demonstrate our ongoing commitment to the rare disease community, especially in the areas where we focus our research. As the Chief Patient Officer, I also use this time to reflect on what more we can do to live up to our core value of an uncompromising commitment to patients.
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