PNRI’s Rare Disease Research Seminar Spotlights Collaboration and Advocacy
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.
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.
Yeast genetics collaboration yields hope for improved diagnosis of urea cycle disorders
The National Urea Cycle Disorders Foundation (NUCDF) showcased PNRI’s Dudley Lab for its groundbreaking genetic screening tool. The Dudley Lab’s research not only accelerates diagnosis but may also pave the way for personalized treatments, improving patient outcomes.
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.
A Sneak Peek Into 2024 Science Matters Seminars
Immerse yourself in the forefront of genetics with PNRI’s 2024 Science Matters seminars. Check out the full lineup on PNRI’s Science Matters page – you won’t want to miss this!
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.