PNRI Science: Rare Disease, Real Progress

Episode 4: Industry Partner Perspectives

"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 [https://www.seattlechildrens.org/research/] and with participation from the University of Washington [https://www.washington.edu/]. 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 [https://pnri.org/about/connect] This podcast is hosted by PNRI CEO Jack Faris and his daughter Anna Faris. www.instagram.com/annafaris [https://www.instagram.com/annafaris/] Follow @PNRIgenetics on Instagram [https://www.instagram.com/pnrigenetics], LinkedIn [https://www.linkedin.com/company/pnrigenetics/], YouTube [https://www.youtube.com/@PNRIGenetics], Facebook [https://www.facebook.com/PNRIGenetics/], Twitter [http://x.com/pnrigenetics], and Bluesky [https://bsky.app/profile/pnrigenetics.bsky.social]

Episode 3: Voices From the Bench and the Bedside

"To really understand these diseases, you need to work together—clinicians, researchers, families. That's how we make progress." — Jessica Ayers What drives scientists and clinicians to dedicate their careers to rare disease research? In this episode of PNRI Science: Rare Disease, Real Progress, we hear from individuals at every stage of their careers—from undergraduates to seasoned researchers and medical professionals—who share what fuels their passion, what challenges they face, and how collaboration helps move the science forward. These conversations, recorded live at PNRI's 2025 Rare Disease Day Symposium, highlight the power of working across disciplines and institutions. From modeling rare skin disorders in 3D cultures to uncovering somatic mutations hiding in hard-to-reach tissues, this episode offers a behind-the-scenes look at how discovery happens—and why listening to patients and families is key to making it matter. In this episode: * [0:47] Welcome to the Rare Disease Day Symposium * [1:49] Meet the Clinician-Scientist: James Bennett * [7:34] Meet the Researchers: Kate Helle & Rituparna Sinha Roy * [13:17] Meet the Researcher: Larissa Robinson-Cooper * [16:16] Meet the Researchers: Karina Schmidt & Jessica Ayers * [20:57] Closing remarks and 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 [https://www.seattlechildrens.org/research/] and with participation from the University of Washington [https://www.washington.edu/]. [https://www.washington.edu/] 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 [https://pnri.org/about/connect] This podcast is hosted by PNRI CEO Jack Faris and his daughter Anna Faris. www.instagram.com/annafaris [https://www.instagram.com/annafaris/] Follow @PNRIgenetics on Instagram [https://www.instagram.com/pnrigenetics], LinkedIn [https://www.linkedin.com/company/pnrigenetics/], YouTube [https://www.youtube.com/@PNRIGenetics], Facebook [https://www.facebook.com/PNRIGenetics/], Twitter [http://x.com/pnrigenetics], and Bluesky [https://bsky.app/profile/pnrigenetics.bsky.social]

Episode 2: Driven by Diagnosis

"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 [https://www.seattlechildrens.org/research/] and with participation from the University of Washington. [https://www.washington.edu/] 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 [https://pnri.org/about/connect] This podcast is hosted by PNRI CEO Jack Faris and his daughter Anna Faris. www.instagram.com/annafaris [https://www.instagram.com/annafaris/] Follow @PNRIgenetics on Instagram [https://www.instagram.com/pnrigenetics], LinkedIn [https://www.linkedin.com/company/pnrigenetics/], YouTube [https://www.youtube.com/@PNRIGenetics], Facebook [https://www.facebook.com/PNRIGenetics/], Twitter [https://x.com/pnrigenetics], and Bluesky [https://bsky.app/profile/pnrigenetics.bsky.social].

Episode 1: Two Institutions, One Powerful Event

"Rare disease research is shaping the way almost all biomedical research will be carried forward in the future." — Dr. Jack Faris What does it take to make real progress in the fight against rare diseases? In this episode of PNRI: Rare Disease, Real Progress, PNRI CEO Jack Faris and his daughter and co-host, Anna Faris, reflect on the energy and discoveries presented at the 2025 Rare Disease Day Symposium. Joined by special guest Dr. Vittorio Gallo, Chief Scientific Officer at Seattle Children's Research Institute, they share pivotal moments, new therapeutic advances, and the collaborative spirit that defined the event. You'll hear how recent innovations are changing lives—and why continued advocacy, collaboration, and investment are essential to sustaining this momentum. In this episode: * [0:47] Welcome to the Rare Disease Day Symposium * [1:37] Why collaboration drives rare disease research * [4:06] A look at the future; faster, more connected discovery * [6:33] Dr. Vittorio Gallo on progress and partnerships * [9:20] Success stories in rare disease treatment * [11:48] Final thoughts and gratitude 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 [https://www.seattlechildrens.org/research/] and with participation from the University of Washington [https://www.washington.edu/]. 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 [https://pnri.org/about/connect] This podcast is hosted by PNRI CEO Jack Faris and his daughter Anna Faris. www.instagram.com/annafaris [https://www.instagram.com/annafaris/] Follow @PNRIgenetics on Instagram [https://www.instagram.com/pnrigenetics], LinkedIn [https://www.linkedin.com/company/pnrigenetics/], YouTube [https://www.youtube.com/@PNRIGenetics], Facebook [https://www.facebook.com/PNRIGenetics/], Twitter [https://x.com/pnrigenetics], and Bluesky [https://bsky.app/profile/pnrigenetics.bsky.social].

Introducing Season 2: Voices From Rare Disease Day 2025

In Season 2, we're bringing you something special—conversations 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 work—and 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.