Where Nature Meets Nurture
PNRI’s Dr. Lisa Stubbs explores where nature meets nurture, studying how genetics and stress intersect to shape brain development and pregnancy outcomes, and uncovering protective genes against gestational diabetes.


PNRI’s Dr. Lisa Stubbs explores where nature meets nurture, studying how genetics and stress intersect to shape brain development and pregnancy outcomes, and uncovering protective genes against gestational diabetes.

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.

The Stubbs Lab is on a quest to understand how the AUTS2 gene sets the stage for a diverse array of neurological disorders, such as autism spectrum disorder, intellectual disability, ADHD, feeding disorders, epilepsy, and even susceptibility to addiction.

The National Urea Cycle Disorder Foundation (NUCDF) showcased PNRI’s Dudley Lab for its groundbreaking genetic screening tool.