PNRI scientists are at the forefront of groundbreaking rare disease research. This spring, they are taking their breakthroughs global, sharing their labs’ latest findings with experts and advocates worldwide.
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.
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.
The National Urea Cycle Disorder Foundation (NUCDF) showcased PNRI’s Dudley Lab for its groundbreaking genetic screening tool.
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!
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.
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.
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…
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.
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.