PNRI podcast explores research into rare diseases like AADC deficiency
Show offers glimpse at how 'cross-disciplinary collaboration' boosts research
A podcast from the Pacific Northwest Research Institute (PNRI) called PNRI Science: Rare Disease, Real Progress returns for its second season with four episodes that explore how research into rare diseases like aromatic L-amino acid decarboxylase (AADC) deficiency is driving steps forward in healthcare.
“Rare disease research is often where the most innovative science happens,” Jack Faris, PhD, CEO of PNRI, said in a press release from the nonprofit PNRI. Faris hosts the podcast with his daughter, Anna Faris, known for her work as an actor and producer.
Many rare diseases like AADC deficiency — a rare genetic disorder that impairs communication between nerve cells, causing developmental delays, muscle weakness, and stiffness — lack effective treatments.
The podcast, recorded live at PNRI’s 2025 Rare Disease Day symposium, offers a behind-the-scenes look at how cross-disciplinary collaboration is accelerating research and how these advances are opening up new possibilities for treating not only rare diseases, but a wide range of other conditions.
“When we investigate what’s rare, we uncover fundamental insights that can lead to treatments for far more common conditions,” Jack Faris said.
A view into work being done on rare diseases
As in the podcast’s first season, each of the four new episodes will feature patients and their families, researchers and doctors, and corporate allies who offer unique perspectives on the progress being made in research into rare diseases.
- Episode 1 — “Two Institutions, One Powerful Event” — provides a backstage pass to PNRI’s 2025 Rare Disease Day symposium, with organizers Jack Faris and Vittorio Gallo, PhD, senior vice president and chief scientific officer at Seattle Children’s Research Institute, discussing the power of collaboration to accelerate rare disease research and identify new therapeutic breakthroughs.
- Episode 2 — “Driven by Diagnosis” — is a conversation between three rare disease advocates who share how their personal experiences inspire their work to improve research and policy. They show how patient voices help advance treatments and shape laws, while also connecting researchers with the communities they serve.
- Episode 3 — “Voices From the Bench and the Bedside” — puts the spotlight on researchers and healthcare professionals working on rare diseases, who share honest thoughts and show how listening to patients can help drive steps forward in research.
- The final episode — “Industry Partner Perspectives” — features insights from Fran Akoh of Ultragenyx Pharmaceutical and Jonathan Christie of Bruker Spatial Biology, who are focused on bridging the gap between research and real-world treatments, guided by both the science and the communities behind them.
PNRI Science: Rare Disease, Real Progress is streaming on Apple Podcasts, Spotify, YouTube, and at pnri.org/podcasts.
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