Pacific Northwest Research Institute

Bold Breakthroughs

PNRI is an independent biomedical research institute dedicated to unraveling the mysteries of the human genome and making lifesaving discoveries for those living with a rare disease. 

Each of our 5 laboratories has its own area of expertise, and collaborates with fellow scientists, researchers, and clinicians across the globe to share insights and make use of the most cutting-edge technology to bring us closer to our next amazing breakthrough.

Rare Disease Research

PNRI's Dudley Lab has made remarkable strides in diagnosing rare urea cycle disorders. The lab developed a groundbreaking genetic screening tool for OTC deficiency—the most common urea cycle disorder—which allows clinicians to rapidly diagnose and assess the severity of the disease. The lab also made important discoveries about Argininosuccinate lyase deficiency (ASL deficiency), showing how specific genetic changes disrupt the function of a key enzyme and how certain combinations of these changes can unexpectedly restore its activity. These advancements are improving the accuracy and speed of diagnosis and bringing new hope to patients and families affected by these life-threatening disorders.

The Carvalho Lab at PNRI has also made extraordinary progress in uncovering the genetic causes of rare diseases, focusing on complex genomic rearrangements–particularly those involving developmental delays, neurological disorders, and bone malformations–often missed by standard testing methods. By developing advanced techniques to analyze these intricate DNA changes, the lab provided answers to families with previously undiagnosed conditions, paving the way for improved diagnostics and treatments. 

Cancer Research

Dr. Michael Metzger and his lab’s groundbreaking research into contagious cancer in clams continues to make waves, offering incredible insights into cancer biology. They uncovered how these cancers spread through the transfer of living cancer cells between clams, a process previously thought impossible in animals. Dr. Metzger’s work was also featured at the WA Tech Alliance’s Discovery Series, where he discussed its broader implications for science, health, and the potential development of innovative therapies.

Diabetes Research

2024 marked the 20th anniversary of the TEDDY Study (The Environmental Determinants of Diabetes in the Young), an international effort with PNRI serving as the only TEDDY research center on the West Coast. Over the past two decades, TEDDY has followed thousands of children at high genetic risk for type 1 diabetes, collecting extensive data on diet, infections, stress, and other environmental factors. These efforts have provided groundbreaking insights into how genetics and environment interact to trigger type 1 diabetes, paving the way for prevention strategies and a deeper understanding of autoimmune diseases. 

Genetic and Genomic Research

Dr. Rick McLaughlin and his lab at PNRI are delving deep into the enigmatic “dark side” of the genome—the 98% of human DNA previously labeled as “junk.” Focusing on viral genes embedded within our DNA, the McLaughlin Lab uncovered how these elements influence key biological processes and may contribute to diseases like lupus and cancer. By investigating the role of these ancient viral remnants in pregnancy outcomes and fetal development, Dr. McLaughlin’s work is reshaping our understanding of how the hidden portions of our genome impact health and disease, paving the way for innovative approaches to diagnosis and treatment.

Mission

PNRI’s mission is to explore the human body’s innate ability to remain healthy in the face of our individual genetic risks in relationship to the environmental hazards we all encounter. Our scientists unravel the powerful mysteries of the human genome through the lens of “what keeps us healthy” to drive future medical breakthroughs.