Our new non-executive board member Birgitte Volck MD, PhD has decades of experience at companies developing new therapies to treat patients with rare diseases. On rare disease day, we tap into her experience and insights and her hopes for rare disease patients.

Birgitte’s knowledge and experience will be invaluable as we gear up to start our first clinical trial with our insurmountable MC2 antagonist for diseases of ACTH-excess, such as congenital adrenal hyperplasia and ACTH-dependent Cushing’s. Two rare endocrinology indications with high levels of unmet need.

1. What does working in rare diseases area mean to you?

For me, it has been a transformative journey spanning more than 20 years. I had the privilege of working with Genzyme in the early 2000s, a time when most pharmaceutical companies were focused on large disease areas and blockbuster drugs. However, Genzyme—under the visionary leadership of Henry Termeer—pioneered a different path. It was among the first to develop therapies for small patient populations suffering from rare, often overlooked diseases, laying the foundation for how biotech companies engage with and support rare disease communities.

This approach ultimately shaped what we now recognise as patient-centric drug development. Genzyme not only addressed the immense unmet medical needs of patients and caregivers but also proved that rare disease treatments could be both scientifically groundbreaking and commercially viable. That legacy remains my true north, guiding my work in drug development and commercialisation for rare diseases—and beyond.

Importantly, rare disease drug development has also served as a catalyst for precision medicine. The same core principles—leveraging genomic insights, targeting specific genetic variants, tailoring treatments for small populations, and utilising biomarkers and advanced imaging—are now being applied across multiple therapeutic areas, including immunology, oncology, and neurology. What began as a commitment to helping rare disease patients has evolved into a broader revolution in medicine, redefining how we develop and deliver treatments for patients worldwide.

2. What are the main challenges faced by companies developing medicines for rare diseases today?

While most rare diseases still lack approved treatments, nearly half of recent FDA approvals target rare disease indications, making drug development in this space common rather than niche. With multiple programs often competing for the same rare disease indications, you may not be first-in-class but rather second or third. This makes it essential to design an evidence package that clearly differentiates your therapy for regulatory approval and robustly demonstrates its added value for reimbursement.

Another persistent challenge is ensuring the timely delivery of medicines to those in need. The orphan drug designation provides incentives and regulatory support, but it doesn’t always accelerate development. Studies show that orphan-designated drugs often face longer clinical timelines due to limited patient populations, incomplete disease understanding, insufficient natural history studies, unvalidated clinical endpoints, and complex regulatory pathways. Therefore, a well-structured strategic plan and diligent execution are essential—balancing scientific innovation, regulatory pathways, and patient access planning from the outset. With the rapid advancement of AI, companies are increasingly leveraging machine learning and data-driven insights to optimise drug discovery and development, ultimately helping deliver medicines faster and more efficiently.

Ultimately, I am confident and optimistic that these challenges can be successfully overcome. By fostering early collaboration with rare disease communities, incorporating patient perspectives and addressing their unique needs, meaningful advancements in the development of innovative therapies will be realised.