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  • Labs
    • Research Topics
    • Carvalho Lab
    • Dudley Lab
    • Hagopian Lab
    • McLaughlin Lab
    • Metzger Lab
    • Stubbs Lab
  • News
    • Blog Posts
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    • Rare Disease Day 2025
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  • About
    • Connect with PNRI
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Blog

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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.

    Read More
  • 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.

    Read More
  • 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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  • Your Support Powers PNRI’s Life-Saving Research Advances

    December 2023

    This holiday season, we invite you donate to PNRI and be a part of ensuring that our most promising discoveries and technologies reach patients when they need them most.

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  • Now Accepting: Applications for PNRI’s 2024 Summer Undergraduate Research Internship

    December 2023

    PNRI’s Summer Undergraduate Research Internship (SURI) is an exciting opportunity tailored for undergraduates passionate about biomedical sciences. This nine-week intensive, paid  program offers a dive into research projects, scientific symposiums, and career development activities, giving aspiring researchers a platform to flourish.

    Read More
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