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  • Advancing Genetic Research, Together: Our FY24 Annual Report

    April 2025

    PNRI’s FY24 Annual Report is here! See how we’re advancing genetic research, expanding programs, and shaping the future of human health.

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  • Rare Disease Day 2025: Accelerating Discovery Together

    March 2025

    PNRI’s inaugural Rare Disease Day symposium ignited bold collaborations to accelerate rare disease research. See how scientists, clinicians, and advocates are driving breakthroughs!

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  • PNRI Opens its Doors for Behind-the-Scenes Look Into Genetics Research

    May 2024

    Last Saturday PNRI hosted free lab tours, a thrilling opportunity to bring the public behind the scenes of their cutting-edge genetics research.

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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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  • rare disease research

    PNRI’s Rare Disease Research Seminar Spotlights Collaboration and Advocacy

    March 2024

    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.

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  • rare disease

    Rare Disease Day 2024 and the Frontier of Genetic Research

    February 2024

    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.

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  • AUTS2

    The AUTS2 Gene: Unraveling Common Genetic Threads of Neurodevelopmental Disorders

    February 2024

    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.

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  • NUCDF Highlights Dudley Lab Breakthrough in Urea Cycle Disorder Research

    January 2024

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

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  • A Sneak Peek Into 2024 Science Matters Seminars

    January 2024

    Immerse yourself in the forefront of genetics with PNRI’s 2024 Science Matters seminars. Check out the full lineup on PNRI’s Science Matters page – you won’t want to miss this! 

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