"What is stopping Owen from having a treatment is funding—not science."  —Lindsay Topping Scheutz

How do personal stories fuel scientific progress in the world of rare diseases? 

In this episode of PNRI Science: Rare Disease, Real Progress, we hear from three powerful advocates who have turned personal experience into lasting impact.

Daniel Barvin shares how learning he carried a genetic mutation linked to ALS and FTD led him to launch End the Legacy and help bring a promising new therapy to clinical trial. Lindsay Topping-Scheutz reflects on her journey as a rare disease parent and her work with the Northwest Rare Disease Coalition to push for policies that shorten the diagnostic odyssey. And Maddie Gillentine, a rare disease geneticist and advocate, explains how the HNRNP Family Foundation is uniting researchers and families to advance discovery across a group of ultra-rare neurodevelopmental disorders.

Together, their voices reveal the heart of rare disease advocacy—resilience, collaboration, and a relentless drive to change the system for the better.

In this episode:

• [0:47 ] Welcome to the Rare Disease Day Symposium
• [1:45 ] Daniel Barvin: advocacy in action
• [7:05 ] Lindsay Topping-Scheutz: a mother’s advocacy
• [12:56 ] Maddie Gillentine: bridging research and advocacy
• [16:04 ] Closing thoughts and call to action

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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