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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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Now Accepting: Applications for PNRI’s 2024 Summer Undergraduate Research Internship
PNRI’s Summer Undergraduate Research Internship (SURI) is an exciting opportunity tailored for undergraduates passionate about biomedical sciences. This nine-week intensive, paid program offers a dive into research projects, scientific symposiums, and career development activities, giving aspiring researchers a platform to flourish.
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Expanding Newborn Screening Panels in the Genomic Era
The pace of genetic discovery has expanded the ability to diagnose more of the rare, inherited diseases that threaten the lives of newborns. And yet, the pace of adding new diseases to the newborn screening program is lagging.
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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.
