Rare Disease, Real Progress: Season 2 of PNRI’s Podcast Is Here

Listen now to PNRI Science: Rare Disease, Real Progress – our latest podcast series featuring conversations from our 2025 Rare Disease Day Symposium with scientists, advocates, and industry leaders accelerating rare disease research.

Advancing Genetic Research, Together: Our FY24 Annual Report

PNRI’s FY24 Annual Report is here! See how we’re advancing genetic research, expanding programs, and shaping the future of human health.

Rare Disease Day 2025: Accelerating Discovery Together

PNRI’s inaugural Rare Disease Day symposium ignited bold collaborations to accelerate rare disease research. See how scientists, clinicians, and advocates are driving breakthroughs!

Seattle Times Op-Ed: Federal Research Funding Cuts Interrupt Vital, Lifesaving Work

Federal funding cuts disrupt research critical to medical advancements, impacting those needing diagnoses, treatments, and cures. Read PNRI’s op-ed in The Seattle Times to learn more.

When Science Gets Caught in the Crossfire: The Lasting Impact of Federal Funding Disruptions

Federal funding disruptions have stalled research, delaying critical discoveries. PNRI’s leaders share why stable support matters and how we can protect scientific progress. Read our special message.

PNRI 2024 Year in Review: A Year of Innovation, Collaboration, and Discovery 

From uncovering genetic mysteries to inspiring the next generation, PNRI’s 2024 was a year of breakthroughs, collaboration, and discovery. Read the highlights!

Solving the Unsolved Cases of Rare Diseases

Dr. Cláudia Carvalho and her team at PNRI are on a mission to diagnose rare diseases that have long baffled the medical community. With a focus on genetic structural variants, often undetected in standard tests, their work is pushing the boundaries of what’s possible in genetics.

The Next Generation of Brilliant Scientists: Summer Undergraduate Research Interns at PNRI

The Summer Undergraduate Research Internship (SURI) is integral in PNRI, where scientists value mentoring the next generation. This summer we proudly hosted ten exceptional interns with diverse interests and career goals as they got hands-on training in our laboratories.

Introducing “PNRI Science: Mystery and Discovery” – A New PNRI Podcast

PNRI Science: Mystery & Discovery goes beyond the jargon to explore the passion and people at the forefront of genetic research. Our host, Jack Faris, PNRI CEO, interviews PNRI’s brilliant scientists to share what excites them about genetic research, what inspired them to become scientists, and those myths about science they would love to bust.…

DNA

Pacific Northwest Research Institute Uncovers Hidden DNA Mechanisms of Rare Genetic Diseases

Researchers in PNRI’s Carvalho Lab, in collaboration with other institutions, have uncovered how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. This discovery opens new avenues for understanding and treating rare genetic disorders.