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rare disease

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  • PNRI Announces Leadership Transition and Welcomes New COO 

    June 2025

    PNRI welcomes new COO Mark Rieder, PhD, and honors retiring CEO Jack Faris, PhD, marking a new chapter in advancing genetic research.

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  • Rare Disease, Real Progress: Season 2 of PNRI’s Podcast Is Here

    May 2025

    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.

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  • The TEDDY Study Turns 20: A New Era for T1D Insights

    November 2024

    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.

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  • Solving the Unsolved Cases of Rare Diseases

    September 2024

    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.

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  • Two-Decade Dedication

    August 2024

    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.

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  • Introducing “PNRI Science: Mystery and Discovery” – A New PNRI Podcast

    July 2024

    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.…

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  • DNA

    Pacific Northwest Research Institute Uncovers Hidden DNA Mechanisms of Rare Genetic Diseases

    June 2024

    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.

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  • genetic mysteries

    PNRI’s Inaugural Rare Disease Hackathon: Uniting Experts to Solve Genetic Mysteries

    May 2024

    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.

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  • recessive diseases

    Study Reveals Role of Newly Inherited DNA Variants in Recessive Diseases

    April 2024

    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.

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  • PNRI Discoveries Showcased at Global Rare Disease Conferences

    March 2024

    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.

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