Listen now to PNRI Science: Rare Disease, Real Progress – our latest podcast series featuring conversations from our 2025 Rare Disease Day Symposium with scientists, advocates, and industry leaders accelerating rare disease research.
PNRI’s FY24 Annual Report is here! See how we’re advancing genetic research, expanding programs, and shaping the future of human health.
PNRI’s inaugural Rare Disease Day symposium ignited bold collaborations to accelerate rare disease research. See how scientists, clinicians, and advocates are driving breakthroughs!
Explore the groundbreaking TEDDY Study’s 20 years of research into type 1 diabetes (T1D). Discover how genetics and the environment interact to shape T1D risk and prevention strategies.
Dr. Cláudia Carvalho and her team at PNRI are on a mission to diagnose rare diseases that have long baffled the medical community. With a focus on genetic structural variants, often undetected in standard tests, their work is pushing the boundaries of what’s possible in genetics.
Explore how two decades of diabetes research by Dr. Bill Hagopian and Michael Killian at PNRI have paved the way for groundbreaking discoveries in type 1 diabetes prevention.
PNRI Science: Mystery & Discovery goes beyond the jargon to explore the passion and people at the forefront of genetic research. Our host, Jack Faris, PNRI CEO, interviews PNRI’s brilliant scientists to share what excites them about genetic research, what inspired them to become scientists, and those myths about science they would love to bust.…
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.