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rare disease

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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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