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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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Now Accepting: Applications for PNRI’s 2024 Summer Undergraduate Research Internship
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.
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Unlocking the Secrets of Complex Genomic Rearrangements in Disease
In a pair of recent studies, PNRI’s Carvalho Lab is making significant strides in unraveling the intricate relationship between our genes and their structure, shedding new light on the genetic underpinnings of specific diseases.
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Expanding Newborn Screening Panels in the Genomic Era
The pace of genetic discovery has expanded the ability to diagnose more of the rare, inherited diseases that threaten the lives of newborns. And yet, the pace of adding new diseases to the newborn screening program is lagging.
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Mentoring Tomorrow’s Genetic Innovators
The Summer Undergraduate Research Internship (SURI) is integral in PNRI, where scientists value mentoring the next generation. This summer we proudly hosted five exceptional interns with diverse interests and career goals as they got hands-on training in our laboratories.
