Researchers in PNRI’s Carvalho Lab, in collaboration with other institutions, have uncovered how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. This discovery opens new avenues for understanding and treating rare genetic disorders.
For three dynamic days, participants immersed themselves in solving genetic mysteries in PNRI’s first-ever Rare Disease Hackathon. Read on to learn about their mission to uncover disease-causing genetic variants in unresolved rare disease families.
Last Saturday PNRI hosted free lab tours, a thrilling opportunity to bring the public behind the scenes of their cutting-edge genetics research.
A team of researchers from Baylor College of Medicine, including PNRI’s own Dr. Cláudia Carvalho, conducted a decade-long exploration into Turkish genetics, uncovering a vital piece of the puzzle behind why some rare diseases emerge.
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.
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.