Rare Disease Day 2025: Accelerating Discovery Together
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
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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Study Reveals Role of Newly Inherited DNA Variants in Recessive Diseases
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
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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PNRI’s Rare Disease Research Seminar Spotlights Collaboration and Advocacy
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 Day 2024 and the Frontier of Genetic Research
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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The AUTS2 Gene: Unraveling Common Genetic Threads of Neurodevelopmental Disorders
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
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
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
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.