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.
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.
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…
Unlocking the Secrets of Complex Genomic Rearrangements in Disease
In a pair of recent studies, PNRI’s Carvalho Lab is making significant strides in unraveling the intricate relationship between our genes and their structure, shedding new light on the genetic underpinnings of specific diseases.
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.
Mentoring Tomorrow’s Genetic Innovators
The Summer Undergraduate Research Internship (SURI) is integral in PNRI, where scientists value mentoring the next generation. This summer we proudly hosted five exceptional interns with diverse interests and career goals as they got hands-on training in our laboratories.
Ornithine transcarbamylase (OTC) deficiency with Aimée Dudley, Andrea Gropman, and Tresa Warner
In this podcast episode, PNRI Senior Investigator Dr. Aimée Dudley joins Dr. Andrea Gropman, Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children’s National Hospital, and Tresa Warner, a parent of a child living with OTC deficiency and the President of the Board of Directors of the National Urea Cycle Disorders Foundation, to discuss a novel genetic screening tool that offers hope to babies born with ornithine transcarbamylase deficiency (OTC deficiency), a life-threatening metabolic disorder.
DNA Today Podcast Explores Three Perspectives on Dudley Lab’s Research Revolutionizing Diagnosis and Treatment of OTC Deficiency
PNRI’s Dr. Aimée Dudley joins Dr. Andrea Gropman of Children’s National Hospital and Tresa Warner of the National Urea Cycle Disorders Foundation to discuss a novel genetic screening tool that offers hope to babies born with OTC deficiency, a life-threatening metabolic disorder.
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
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.