Personal Experiences Push Us Forward in Beta Thalassemia

Jun 14, 2021

Personal Experiences Push Us Forward in Beta Thalassemia

As Vertex advances our cell and genetic therapy programs, we are continually inspired and motivated by the patients and communities we aim to serve. Beta thalassemia is a fairly common genetic blood disorder — it’s estimated that thousands of infants are born with it every year, and millions of people around the world are carriers. It’s most commonly seen in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia and Southeast Asia, and that’s why our beta thalassemia program in particular hits close to home for me.

Literally.

I grew up in Sardinia, which is one of the areas of the world with one of the highest rate of beta thalassemia. It is part of life there; there is not a single family that is not touched by this to some extent, including mine.

Frequent blood transfusions are the only option right now for people with this devastating disease, and the need for blood is continual in a small community with high rates of beta thalassemia. When I was a kid, we were constantly reminded about the importance of donating blood, starting as early as elementary school. There were blood drives every week in the school yard. And since the age of 18, I’ve always donated blood.

It’s said that personal experiences can shape our passions, and that is definitely true in my case. I always wanted to do something about this huge problem in my community and even tried multiple times to start a hemoglobinopathies program earlier in my career.

Another Vertexian’s personal experience is at the root of how Vertex got its start in sickle cell disease and beta thalassemia, aka our hemoglobinopathies program. It’s both an incredible story of drawing from a team member’s personal tragedy to ignite the spark for progress and innovation and a fantastic example of how ideas can flourish at Vertex.

In 2015, Vertexian Setu Roday, a Senior Scientist at the time, pitched the idea of pursuing hemoglobinopathies as part of Vertex’s inaugural innovation challenge, VOICE (Vertex Opportunities for Intrapreneurship & Corporate Evolution). Similar to my community in Sardinia, thalassemia was ever-present in his family in India where he grew up. His younger brother passed away from beta thalassemia at the age of six and everyone in his family is a carrier of the faulty gene. Later in life, when he was starting a family, he discovered that his wife was also a carrier. Together they had a 25% chance of passing along two healthy genes (no disease) and a 25% chance of passing along two faulty genes, which would cause the same disease that robbed his brother of his childhood and his life.

VOICE is an internal global innovation tournament that empowers all employees to develop ideas inspired by game-changing science or business challenges. It’s been held every year since 2015 and is one of the ways Vertex fosters its culture of innovation, new ideas and diverse perspectives.

VOICE gave Setu the platform to collaborate, innovate and crowdsource to help create the first ever winning idea, “A novel approach to the treatment of beta thalassemia.” We were not yet pursuing research in hemoglobinopathies.

While the initial idea was focused on a small molecule approach, our research strategy is modality-agnostic — we investigate diseases from every angle. Our initial partnership with CRISPR Therapeutics, to use CRISPR/Cas9 gene-editing technology to discover and develop potential treatments for genetic diseases, followed later in 2015. It’s remarkable to see how this combination of personal loss and a commitment to innovation across all of Vertex came together and sowed the opportunity to pursue a potential treatment for beta thalassemia.

Fast forward to today. We are progressing in our research for a potential treatment for beta thalassemia. And Setu? He’s had the opportunity to grow in his role (now a Director in Formulation), gain new expertise and collaborate, both with Vertex colleagues and externally with experts on BCL11A (the gene we’re targeting). The ability to follow his kernel of an idea through to where we are today — it’s impossible not to be excited.