What If? A Core Question Driving Sanofi’s Rare Disease Researchers

Published on: August 11, 2021

For most biopharmaceutical scientists, a new drug approval is the finish line, the result of years of work by hundreds of people to take an idea from the research lab through the clinic and finally getting the treatment to patients. But for Sanofi rare disease scientists, it’s often the trigger to keep pushing boundaries and set our sights on the next potential treatment.

“The thrill of getting a therapy to patients – we’re all worn out, and there is a feeling of great accomplishment after so many people have put in so much work for so many years,” explains Dr. Kelly George, Senior Scientist in the Rare and Neurological Disease Therapeutic Area at Sanofi. “But in my team, we also think ‘what’s next?’ We are looking not only to bring the first treatments to patients but to build upon this success and deliver future treatments to address additional unmet medical needs for our patients.”

Kelly received her PhD in Molecular Biology from Cornell University and conducted research early in her career at Memorial Sloan-Kettering in New York and Brigham and Women’s Hospital in Boston.

For the past five years, Kelly has been working in Sanofi’s rare disease research team, leading the efforts to identify and develop novel biomarkers in rare diseases. She is a molecular biologist with years of bench experience at leading institutions analyzing the effects of genetic variants on the structure and function of cells and tissues. Her role at Sanofi helps bridge the gap between clinical development programs and early stage research projects by bringing learnings from physicians and the patient community back to fuel research on future treatments.

“Industry, academia and healthcare providers all recognize that existing enzyme replacement therapies have revolutionized the field of a subset of rare diseases – lysosomal storage disorders. They have brought hope to families who once had none. Enzyme replacement therapy has given some infants the chance at surviving longer and some adults the opportunity to thrive,” says Kelly. “Enzyme replacement therapy has also set the stage for research in gene therapy and potential solutions that harness our understanding of the body’s DNA.”

Studying how enzyme replacement therapy works for people living with a certain rare disease allows for better understanding of opportunities for improvement, including better targeting to provide more of the missing or deficient enzyme.

“We are always looking for additional ways to optimize existing molecules to improve binding affinity, which may potentially get the treatment to where it needs to go in the body,” explains Kelly.

For Kelly, who is also a mom, her work is particularly important because she knows that some of the patients she is working for are infants and young children.

“As a mother, it is both heartening to hear the stories of some children who are surviving longer because of therapy for a rare disease, but also heartbreaking to hear how far we still have to go. I always think ‘what if there was something better?’ My personal mission is to work on projects that have potential to address unmet medical needs – such as investigating to see if an approach can work better, be better tolerated or be more convenient for patients and their caregivers,” states Kelly.

Kelly recently showed her daughter around one of Sanofi’s research and development labs.

Shepherds of innovation

Dr. Kristina An Haack always knew that she wanted to work with children, so when she began pursuing her career in medicine, pediatrics was a natural choice. But it was during her internship where she met inspiring physicians specializing in genetic metabolic diseases that her dream of working with children and her scientific curiosity came together. Today, she is living that dream with a career developing treatments for people living with rare diseases.

“Like any physician, I am driven by the patients’ best interests. Drug development is not easy, and I love that I work for a company that has the courage to continue to invest in treatments with incremental improvements. Because when a treatment demonstrated clinical differences, even when perceived as small, those differences can potentially make a big difference for patients and their families.”

In her current role, Kristina works directly with healthcare providers to understand how to make a big difference. She also works with scientists, like Kelly, who are experts in lysosomal storage disorders and has access to more than two decades of bench research findings spanning hundreds of potential therapeutic approaches. With these resources, Kristina and her team narrow down the approaches to lead candidates – aiming not to abandon any with potential – and to serve as shepherds for early-stage research and partnering with healthcare providers and patient volunteers to gather clinical evidence.

At the bench inside with the Pompe team at one of Sanofi’s research and development labs.

“The best part of my job is that I am constantly learning from the community of patients, researchers and physicians. It gives me a strong sense of belonging to the broader rare disease community,” says Kristina. “I see the progress and also the opportunity for us to do more. Knowing our limitations is what drives us forward.”

Sanofi has studied the cellular mechanisms and system-wide impacts of rare diseases for decades. Researching a rare disease isn’t just about developing therapy, but also to better understand the specific mechanisms of the disease. In its most simplistic form, Sanofi’s innovation can be compared to how receiving our mail has evolved over the past century.

Looking back to how the Pony Express started delivering letters and packages, it’s easy to identify time and mail size constraints. The advent of better global transportation, the creation of zip codes and digital mail has allowed people to get far more mail to its final destination in a timely and effective manner. Applied to rare disease innovation, that approach is what can also bring us into the next era of therapies – perhaps future advances that could be the “drone deliveries” which are being explored in package delivery.

For Kelly and Kristina, a regulatory approval for a therapy is not the end. It is often the beginning of future research and development. Both are excited to go back to their teams of experts, healthcare providers and most importantly, the rare disease community, to again ask “what if…?”