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.
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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
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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.…
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Rare Disease Day 2024 and the Frontier of Genetic Research
Groundbreaking research projects at PNRI are leveraging the latest discoveries in genetics and innovative DNA sequencing technology to uncover the roots of rare diseases and revolutionize how they are diagnosed.
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NUCDF Highlights Dudley Lab Breakthrough in Urea Cycle Disorder Research
The National Urea Cycle Disorder Foundation (NUCDF) showcased PNRI’s Dudley Lab for its groundbreaking genetic screening tool.
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Your Support Powers PNRI’s Life-Saving Research Advances
This holiday season, we invite you donate to PNRI and be a part of ensuring that our most promising discoveries and technologies reach patients when they need them most.
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Bold Breakthroughs: PNRI’s Night of Celebration, Science, and Hope
In late October, PNRI celebrated recent achievements and ongoing innovation in the field of genetic research with our event: Bold Breakthroughs, an enthusiastic return to in-person events for the institute after a four-year hiatus from our classic annual fundraiser, Evening of Wine. Bold Breakthroughs represented a fresh and energizing adaptation of that classic and was…
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Novel Genetic Screening Tool Offers Hope for Babies Born With Life-Threatening Metabolic Disorder
Every expectant parent hopes to welcome a healthy baby into the world. Unfortunately, infants with some genetic diseases appear healthy at birth, but then rapidly deteriorate—they become lethargic, stop eating, develop seizures, and may progress to coma—symptoms common to a variety of metabolic disorders
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Building a Brighter Future for High-Risk Newborns
Dr. Aimée Dudley’s lab at PNRI has developed a powerful set of scientific tools that addresses a critical, unmet need in the diagnosis of patients with urea cycle disorders.