Rare Disease Day 2025: Accelerating Discovery Together

On February 28, 2025, a powerful force gathered in Seattle: scientists, clinicians, patient advocates, rare disease families, students, and supporters—all united by a common goal: accelerating discovery together for rare diseases.

Rare Genetic Disease Research in Seattle and Beyond, the inaugural Rare Disease Day event in Seattle, co-hosted by PNRI and Seattle Children’s Research Institute, was more than just a meeting—it was a milestone. From the moment the doors opened, the energy was undeniable. Ideas were exchanged, collaborations took shape, and throughout the day, one message rang loud and clear: rare disease research is advancing faster than ever, fueled by science, advocacy and collaboration.

“Seattle has a thriving rare disease research ecosystem, with incredible resources developed by researchers, clinicians, and family foundations,” said Cláudia Carvalho, PhD, PNRI Assistant Investigator and event co-organizer. “This symposium was designed to bring these groups together to share their work, build bridges, and move research forward in a way that benefits the entire community.”

The event was organized by Dr. Carvalho and Aimée Dudley, PhD, PNRI’s Interim Chief Scientific Officer, along with  James T. Bennett, MD, PhD, Attending Physician at Seattle Children’s and Associate Professor at the University of Washington School of Medicine, and Jessica X. Chong, PhD, Associate Professor at the University of Washington. With breakthrough science, powerful advocacy, and meaningful connections at the heart of the day, one thing was certain: rare disease research is gaining momentum like never before.

A Day of Innovation and Discovery

The room buzzed with energy as experts and advocates from across the country came together to push the boundaries of rare disease research. Twenty-eight leading scientists, clinicians, and patient advocates shared their latest discoveries, with representation from PNRI, Seattle Children’s, University of Washington, the Fred Hutchinson Cancer Center, St. Jude Children’s Research Hospital, Baylor College of Medicine, NW Rare Disease Coalition, HNRNP Family Foundation, Born a Hero, and the Foundation for Angelman Syndrome Therapeutics.

Throughout the day, presentations showcased the latest cutting-edge advancements in rare disease research:

• Bridging Science and Lived Experience – A panel of parents, clinicians, and researchers—each personally connected to rare diseases—made one thing clear: patient and family experiences are not just valuable in research—they are essential. Their insights drive the development of better diagnostic tools, shape more effective clinical trials, and ensure that research is not only scientifically rigorous but also practical, accessible, and truly patient-centered. By integrating lived experience into every stage of the research process, we can accelerate breakthroughs in rare disease diagnosis, treatment, and care.
• Advancing Precision Medicine & Gene Therapy – Experts shared groundbreaking targeted therapies for genetic conditions, including innovative gene therapy strategies that are redefining treatment possibilities.
• Leveraging Big Data & Omics Technologies – New research demonstrated how large-scale genomic studies, multi-omic approaches, and long-read sequencing are revealing new disease mechanisms and therapeutic targets.
• Pushing the Boundaries of Disease Modeling – Researchers showcased their work using yeast-based functional assays, zebrafish models, and 3D-engineered muscle tissues to better understand rare genetic conditions and test potential treatments.

The impact of these discussions was immediate. “Collaborations between institutes were formed, and NIH-funded initiatives like GREGoR, SMaHT, and the Undiagnosed Diseases Network will be leveraged to support new projects,” said Dr. Carvalho. “Seeing these connections take shape in real time is exactly what we hoped for—turning shared knowledge into actionable research.”

Click here to see the full lineup of Rare Disease Day 2025 panelists and presenters.

The Power of a Connected Rare Disease Community

One of the most dynamic elements of the symposium was the poster sessions–a time where trainees and researchers gathered over lunch and an evening reception to share their latest findings. Scientists, students, and advocates exchanged ideas, forging connections that will drive research forward long after the event.

Aimée Dudley, PhD, PNRI’s Interim Chief Scientific Officer and event co-organizer, reflected on the power of this exchange: “The rare disease research community is at its strongest when we work together. This event demonstrated the power of collaboration—when scientists and patient advocates are in the same room, incredible things happen. I believe that the discoveries shared here, the new partnerships formed, and the knowledge exchanged will ripple outward, shaping future research and ultimately improving in the lives of people affected by rare diseases.”

Click here to see the full lineup of posters presented at Rare Disease Day 2025.

The Driving Force of Rare Disease Families

But science doesn’t operate in a vacuum–patients, their families, and rare disease  foundations and advocacy groups play an essential role in driving research forward.

This year, more than 30 rare disease family foundations were represented at Rare Disease Day 2025, reinforcing their critical role as advocates, fundraisers, and research accelerators. Many of these organizations began as grassroots efforts—founded by family members determined to find answers for mysterious, life-threatening diseases that affect their loves ones.

With federal funding for research facing increasing uncertainty, the work of rare disease family foundations is more vital than ever. These families don’t just fund research—they drive it forward, connecting scientists, shaping policy, providing samples, and building support networks for others navigating the challenges of a rare disease diagnosis. Their presence at Rare Disease Day 2025 was a powerful reminder that progress in rare disease research isn’t just driven by scientists—it’s powered by families who are hungry for answers for how to help their children.

Click here to meet the rare disease family foundations represented at Rare Disease Day 2025.

Fueling Discovery: Thanks to Our Sponsors

In contrast to the NIH and FDA Rare Disease Day events that were abruptly canceled, PNRI was able to continue with our privately funded event. Rare Genetic Disease Research in Seattle and Beyond was made possible because of the generous support of our 22 event sponsors!  

PNRI’s CEO, Jack Faris, PhD, emphasized the significance of this support:  “At a time when federal support for biomedical research is uncertain, the outstanding success of this symposium speaks volumes. Entirely supported by private sponsors and donors, the event truly embodied the theme of Accelerating Discovery Together.”

We extend our deepest gratitude to the organizations and individuals whose generosity helped make this event a reality: *Trysk Print Solutions *Acadia Pharmaceuticals *K&L Gates *Ultragenyx * Perkins Coie * Jack, Karen, and Anna Faris * Pharming Healthcare Inc. * Bruker * Knobbe Martens * SpringWorks Therapeutics *Novo Nordisk *  Ipsen * Sanofi * Biogen * Nabsys * Orphalan * MedLife Discoveries *  Dorsey Whitney LLP * The Tall Chef * Science in Seattle * Audiotocracy Podcast Production.

Looking Ahead: Building on This Momentum

The conversations sparked at Rare Disease Day 2025 weren’t just inspiring–they were catalysts for scientific breakthroughs.

Dr. Faris reflected on the long-term impact of the day: “The global rare disease research community pushes the frontier of science forward every day, and this symposium showcased that effort. We learned about the vast scope of rare diseases, ongoing improvements in diagnosis, and the promising future of gene therapies and even prevention. While much work remains, we can be confident that Rare Disease Day 2026 will be an occasion to celebrate new advances—some of which we can predict today, and others beyond our current imagination.”

Mark your calendars! Our Rare Disease Day 2026 event will take place on February 27, 2026–join us for another year of breakthrough science, bold advocacy, and unstoppable progress.

Check out the video and photos below for a glimpse of the energy and momentum that made this event so impactful!