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.
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.
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.
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