“In the rare disease space, zebras really do exist. They need care just like everybody else.” — Fran Akoh, Ultragenyx Pharmaceutical

In the final episode of our Rare Disease Day 2025 podcast series, we hear from two industry leaders who are helping connect scientific discovery to real-world impact.

Fran Akoh, Medical Science Liaison at Ultragenyx Pharmaceutical, shares how her team is working to develop the first approved therapy for osteogenesis imperfecta (brittle bone disease). She reflects on the emotional power of hearing from patient families, the importance of rare disease advocacy, and why community support is essential to moving progress forward.

Jonathan Christie of Bruker Spatial Biology describes how spatial biology allows researchers to see exactly where disease-related genes are active within tissue—preserving cellular context and revealing patterns that traditional methods can miss. This added dimension is especially valuable in rare disease research, where samples are limited and genetic clues are hard to find. For Christie, events like this one help connect lab discoveries to real patient impact.

In this episode:

• [0:47] Welcome to the Rare Disease Day Symposium
• [1:16] Why partnerships between research and industry matter
• [1:56] Fran Akoh on brittle bone disease and advocacy
• [6:30] Jonathan Christie on spatial biology in rare disease research
• [9:30] Closing thoughts and sponsor acknowledgements

About the Symposium: In honor of Rare Disease Day, on February 28, 2025, Pacific Northwest Research Institute proudly hosted a scientific symposium in partnership with Seattle Children’s Research Institute and with participation from the University of Washington. Together they celebrated the strength of Seattle’s rare disease research community–including scientists, clinicians, and patient advocates.

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This podcast is hosted by PNRI CEO Jack Faris and his daughter Anna Faris.

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