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Urea Cycle Disorders

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  • Introducing “PNRI Science: Mystery and Discovery” – A New PNRI Podcast

    July 2024

    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

    Rare Disease Day 2024 and the Frontier of Genetic Research

    February 2024

    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

    January 2024

    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

    December 2023

    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

    November 2023

    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

    May 2023

    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 

    March 2023

    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.

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