Help Keep Lifesaving Science Moving Forward
Federal funding cuts are threatening PNRI’s work in rare diseases and type 1 diabetes. Your support helps ensure our scientists can continue developing diagnostic tools, uncovering early drivers of disease, and delivering answers to families who need them now.
Delve into PNRI Labs
Unlocking Insights From Transmissible Cancers in Nature
Explore the Metzger Lab’s work to uncover how clams and other bivalves have developed resistance to rare transmissible cancers – and how these findings may lead to new ways to block cancer in humans.
Solving the Unsolved Cases of Rare Diseases
Learn how the Carvalho Lab dives deep into the human genome to identify DNA structural variants linked to rare diseases like Robinow Syndrome and MECP2 duplication syndrome. Their innovative tools pinpoint these genetic structures, advancing diagnosis and treatment for rare diseases.
Culture of Intellectual Freedom
“PNRI is a creative, invested, and non-traditional institute that is pursuing a daring style of science.” – Dr. Rick McLaughlin, PNRI Associate Investigator
Latest News
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A Dudley Lab Study That’s Rewriting Genetic Assumptions
Dudley Lab’s PNAS study is rewriting genetic assumptions—showing some harmful variants can restore function together. See the coverage and read the study.
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Two Wrongs Make a Right: How Two Damaging Variants Can Restore Health
A groundbreaking PNRI study overturns long-held genetic assumptions, revealing interactions that could enable more accurate, personalized medicine for rare disorders.
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OTC Gene Variants Explained: From Testing to Care
PNRI researchers help clarify how OTC gene variants influence health—turning genetic findings into guidance for care, prevention, and early intervention.
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