What if the biggest breakthroughs in rare disease aren’t just new treatments… but better data, stronger collaboration, and listening to patients?

In this powerful episode, we sit down with Dr. Beth Potter, a leading researcher at the University of Ottawa, to uncover the hidden engine driving rare disease progress: registries, research, and real-world evidence.

From the early days of newborn screening to today’s rapidly evolving treatment landscape, Dr. Potter takes us inside the fight to better understand conditions like PKU (Phenylketonuria)—and why we’re still far from “solving” them.

In this episode, we explore:

Why rare disease registries could change everything

The truth about living with PKU beyond childhood

How patient voices are reshaping research priorities

The barriers no one talks about (data, privacy, fragmented systems)

Why collaboration—not competition—is the future of rare disease innovation

The takeaway?

Breakthroughs don’t happen in silos. They happen when researchers, patients, and communities come together—globally.

This episode is part of our ongoing series with CanPKU+ and the INFORM RARE Research Network, spotlighting the people pushing rare disease research forward.

🎧 Whether you're in healthcare, research, policy—or part of the rare disease community—this conversation will change how you think about progress.

👉 Listen now. Share widely. Be part of the movement.

For more on CanPKU+, visit - https://canpku.org/

For more on INFORM RARE, please visit - https://www.informrare.ca/

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