"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 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.

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.

“One thing that is surprising to people is that there's a lot of creativity in science. There are a million different ways to answer a question.” - Dr. Aimée Dudley

In this episode of PNRI Science: Mystery and Discovery, PNRI CEO Jack Faris interviews PNRI’s Senior Investigator and Interim Chief Scientific Officer, Dr. Aimée Dudley, about how her lab harnesses the awesome power of yeast to pinpoint which genetic variants cause disease. Her lab’s research is used by physicians across the nation to diagnose critically ill newborns with urea cycle disorders. She works closely with physicians and patient families to accelerate the research needed for accurate diagnoses.

Aimée Dudley, PhD, is a PNRI Senior Investigator and Interim Chief Scientific Officer and an affiliate faculty member in the University of Washington’s Department of Genome Sciences and faculty member in the Molecular Engineering Graduate Program and the Molecular and Cellular Biology Graduate Program. She also serves as an Editor-in-Chief at PLoS Genetics. She earned a PhD in genetics from Harvard Medical School, and was an Alexander Hollaender Distinguished Postdoctoral Fellow in Dr. George Church’s laboratory at Harvard Medical School.

What you'll hear in this episode:

• [2:44] Meet Aimée Dudley
• [8:15] A day in the life of a scientist
• [12:10] Myths and misunderstandings about rare diseases
• [20:12] Distrust of scientist is a critical problem
• [24:25} The future––sequence a newborn’s DNA?
• [36:47] Aimée’s journey into science
• [41:56] The team: scientists, clinicians, and parents

In this episode, Aimée delves into the mindset of a scientist and the creativity in the process. She explains how yeast can reveal genetic discoveries about human health, and takes us into the world of rare disease research that brings together scientists with physicians and patients to quickly build the strength of the research to transform healthcare.

The Dudley Lab embodies PNRI’s spirit of intellectual freedom to drive medical breakthroughs. We provide the freedom for scientists to follow where the science leads, and that culture creates incredible discoveries.

To learn more about Aimée check out her lab webpage: pnri.org/dudley-lab. Join us for our Rare Disease Day scientific symposium on 2/28/25!

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 | X (Twitter).