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

SEATTLE, Oct. 1, 2025 /PRNewswire/ -- Despite a year marked by funding freezes, delays, and growing uncertainty about federal support for biomedical research, scientists at Pacific Northwest Research Institute (PNRI) advanced discoveries that could transform diagnosis and treatment for rare and genetic diseases.

In the past year, PNRI researchers published 21 high-impact studies spanning rare inherited disorders, cancer biology, and the structure of the human genome.

"Even in times of funding instability, our scientists remain dedicated to delivering insights that change lives," said Mark Rieder, PhD, Chief Operating Officer at PNRI. "These findings highlight the vital role independent research institutes play in driving innovation outside the spotlight of major medical centers."

Highlights of PNRI's recent research include:

• Rare disease diagnosis: Dr. Aimée Dudley and her team used yeast-based model systems to investigate urea cycle disorders. Their work clarified the impact of genetic variants, distinguishing severe from milder forms — critical knowledge for genetic counseling and treatment.
• Genomic rearrangements: Dr. Cláudia Carvalho's lab mapped repeated DNA sequences and chromosomal inversions that can trigger structural changes in the human genome. Their work revealed how hidden rearrangements disrupt disease genes and emphasized the importance of detecting inversions as overlooked drivers of disease.
• Genomic resources for diagnosis: Dr. Rick McLaughlin and his team contributed to an international effort generating a comprehensive long-read sequencing dataset. This work provides a resource to help clinicians interpret genetic test results and uncover hidden causes of disease.
• Cancer in marine life: Dr. Michael Metzger's lab identified multiple transmissible cancer lineages in basket cockles in Puget Sound. In soft-shell clams, the team showed how contagious cancer cells survive in seawater and spread through populations. They also showed why some infections progress differently, offering insights into cancer evolution with lessons for human oncology.

These discoveries lay the groundwork for earlier diagnoses and better treatments. Yet this progress could be slowed or halted by proposed federal budget changes that threaten to cut biomedical research funding by up to 40 percent, making continued investment essential to sustain discovery.

About PNRI
Pacific Northwest Research Institute (PNRI), founded in 1956, is an independent, nonprofit biomedical research institute dedicated to solving pressing questions in genetics and health. PNRI scientists collaborate with partners worldwide to better understand and treat rare and common diseases. Learn more at pnri.org.

SOURCE Pacific Northwest Research Institute