Advancing genomic medicine in rare diseases

Genomics, the science of how genes function and interact, is helping shape how rare diseases are understood and treated. With approximately 80% of rare diseases believed to have a genetic cause, genomic medicine for rare diseases may support more precise approaches that aim to address disease at its genetic source. This includes innovation across gene therapy, with the aim of expanding options for patients with rare diseases.

Nick France’s journey into rare disease began as a paediatrician working in a critical care unit, which led him to his current role in clinical development for genomic medicine at Alexion, AstraZeneca Rare Disease. He shares why the convergence of technologies may help advance new treatment approaches for patients.

What is your role in research and development (R&D)?

I oversee our teams of physicians and scientists across multiple disease areas who work every day to move programs through all phases of clinical development to approval.

What led you to rare disease research?

During my time as a paediatrician, I was astounded by the disparity between children who were admitted with chronic diseases, for which there were approved therapies, and children with rare diseases, for which there were no treatments.

I wanted to help solve this problem and realised the biopharmaceutical ecosystem would present an opportunity to make an impact on a global level. I’m excited to be at Alexion where I continue to be part of this exciting global ecosystem where I believe we can have a big impact on patients' lives.

What is genomic medicine and why is it important for rare disease?

Genomic medicines have the potential to address the underlying genetic drivers of many rare diseases, which is important given that an estimated 80% of rare diseases are thought to have a genetic basis. Unlike some traditional approaches that primarily manage symptoms, genomic medicine may help target disease more precisely at the molecular level.

Genomic insights are also transforming how we understand rare disease biology, revealing patterns and variability that were previously difficult to detect. This is particularly valuable in rare disease research and development, where significant unmet need still exists, because it can help uncover new drug targets, guide clinical development, better understand patient treatment responses and identify the right patients earlier to potentially speed access to treatment.

How is Alexion advancing genomic medicine for rare diseases?

At Alexion, AstraZeneca Rare Disease, we are uniquely positioned to apply genomic insights that deepen our understanding of rare diseases to advance genomic medicines that diversify our pipeline and our expanding therapeutic modalities — including gene therapy. Together, these innovations have the potential to open new possibilities for patients with diseases that previously had limited or no treatment options.

Why are you proud to work at Alexion?

What really motivates me every day is looking back on where I started as a physician and the rare disease patients that I cared for in the clinic who had no treatment options at the time. I look at where we are now, how much progress has been made for some of those patients, and how much more work is left. It is incredibly motivating to come to work every day with the most innovative technologies, incredible scientists and wonderful collaborators and coworkers. We come together on these projects with the patient in mind.

It has been inspiring to play a role in Alexion's patient-centric approach to drug development. We have a very robust framework in place to ensure that patient insights and touch points are incorporated at multiple points along the journey of developing a new medicine: from entering into the early science to understand the unmet need, to understanding the impact of being in a clinical trial. This approach is essential as we aim to deliver impactful medicines that are meaningful to patients.

What I'm even more proud of is our vision and ambition for the future. There are 10,000 known rare diseases, and over 90% of them don't have approved treatments. We are focused on leading the next wave of innovative medicines and bringing new transformative options to rare disease patients.