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  • Labs
    • Research Topics
    • Carvalho Lab
    • Dudley Lab
    • McLaughlin Lab
    • Metzger Lab
    • Center for Rare Disease Research
    • Clinical and Lab Services
  • News
    • Blog Posts
    • Media Coverage
    • Media Inquiries
  • Events
    • Hope on the Court
    • Science Matters
    • Corporate Sponsorship
    • Rare Disease Day 2025
  • About
    • Connect with PNRI
    • Leadership
    • Board of Trustees
    • Scientific Advisory Board
    • History
    • Annual Reports
    • Education
    • TEDDY & CASCADE Studies
  • Support
    • Support Science 2025
    • Why Your Gift Matters
    • Ways to Give
    • Future Breakthroughs Fund
    • Corporate Giving
    • Legacy Giving
  • Careers
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PNRI

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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.

    Read More
  • 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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  • PNRI Welcomes Dr. Jack Faris as Interim CEO 

    January 2024

    PNRI is thrilled to announce the appointment of Dr. Jack Faris as our new interim CEO. Dr. Faris brings with him a wealth of experience and a dedication to scientific advancement and community engagement.

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  • Bold Breakthroughs: PNRI’s Night of Celebration, Science, and Hope

    November 2023

    In late October, PNRI celebrated recent achievements and ongoing innovation in the field of genetic research with our event: Bold Breakthroughs, an enthusiastic return to in-person events for the institute after a four-year hiatus from our classic annual fundraiser, Evening of Wine. Bold Breakthroughs represented a fresh and energizing adaptation of that classic and was…

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