OTC Gene Variants Explained: From Testing to Care 

PNRI researchers help clarify how OTC gene variants influence health—turning genetic findings into guidance for care, prevention, and early intervention.

Rally for Research, Families, and Hope at “Hope on the Court”  

Join PNRI at Hope on the Court—a Seattle pickleball tournament benefiting families affected by Arginase 1 Deficiency. Rally for research, families, and hope! 💙 hopeonthecourt.com

recessive diseases

Pacific Northwest Research Institute Publishes Key Advances in Rare and Genetic Disease Research Amid National Funding Uncertainty 

Despite a challenging year for research funding, PNRI scientists moved discovery forward with 21 studies in the past year, shedding light on genetic disorders, cancer biology, and hidden patterns in the human genome – breakthroughs that demonstrate the impact of continued investment in biomedical research.

A Summer of Discovery: PNRI’s 2025 SURI Interns Take the Stage 

From cancer in clams to rare disease genomics, PNRI’s 2025 SURI interns spent the summer tackling big questions through hands-on research.

Carvalho Lab Shares New Insights Into Rare Diseases, Inversions, and Complex Genomic Rearrangements 

New research from PNRI’s Carvalho Lab reveals how complex genomic rearrangements like inversions may help solve rare disease cases that defy standard diagnosis.

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.