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PNRI Science: Rare Disease, Real ProgressAuthor: PNRI
We're back with Season 2 of our podcast PNRI Sciencethis time recorded live at PNRI's 2025 Rare Disease Day symposium. It was a day full of energy, insight, and shared purpose, as scientists, clinicians, advocates, and industry leaders came together to accelerate rare disease research and treatment. Hosted by Jack Faris, CEO of the Pacific Northwest Research Institute, and his daughter, actor and producer Anna Faris, this season captures personal stories and fresh perspectives from across the rare disease landscape. You'll hear from rare disease families, early-career scientists, seasoned clinicians, and corporate partners, all reflecting on what drives their workand what's possible when people from different sectors come together. Because in rare disease, a diagnosis isn't the end of the story. It's the start of something powerful. To learn more about PNRI's scientists and groundbreaking research, visit pnri.org. Follow @pnrigenetics on Instagram X (Twitter) LinkedIn YouTube Facebook. Language: en-us Genres: Business, Natural Sciences, Non-Profit, Science Contact email: Get it Feed URL: Get it iTunes ID: Get it Trailer: |
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Episode 4: Industry Partner Perspectives
Episode 4
Tuesday, 27 May, 2025
"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. Connect with PNRI, ask our scientists questions, or come on a lab tour! pnri.org/about/connect This podcast is hosted by PNRI CEO Jack Faris and his daughter Anna Faris. www.instagram.com/annafaris Follow @PNRIgenetics on Instagram, LinkedIn, YouTube, Facebook, Twitter, and Bluesky
