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.


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

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

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.

PNRI lists its 45,000-sq-ft headquarters at 720 Broadway in Seattle for sale to position the institute for future research sustainability and growth.

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

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

Last Saturday PNRI hosted free lab tours, a thrilling opportunity to bring the public behind the scenes of their cutting-edge genetics research.

A team of researchers from Baylor College of Medicine, including PNRI’s own Dr. Cláudia Carvalho, conducted a decade-long exploration into Turkish genetics, uncovering a vital piece of the puzzle behind why some rare diseases emerge.

PNRI scientists are at the forefront of groundbreaking rare disease research. This spring, they are taking their breakthroughs global, sharing their labs’ latest findings with experts and advocates worldwide.

Learn more about PNRI’s special Science Matters seminar honoring Rare Disease Day, featuring Jill Hawkins and Jennifer Posey, MD, PhD, two of our partners in the rare disease research community.