“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 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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