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.
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…
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.
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.
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
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.