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The Dark Side of the Genome
Join us for an engaging Q&A with PNRI’s Dr. Rick McLaughlin as he explores the mysteries of our DNA, focusing on the 98% once considered “junk.” Discover how his groundbreaking research on transposable elements is transforming our understanding of genetics and its impact on diseases like lupus and cancer. Learn about his journey, the exciting…
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Pacific Northwest Research Institute Uncovers Hidden DNA Mechanisms of Rare Genetic Diseases
Researchers in PNRI’s Carvalho Lab, in collaboration with other institutions, have uncovered how specific DNA rearrangements called inverted triplications contribute to the development of various genetic diseases. This discovery opens new avenues for understanding and treating rare genetic disorders.
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PNRI’s Inaugural Rare Disease Hackathon: Uniting Experts to Solve Genetic Mysteries
For three dynamic days, participants immersed themselves in solving genetic mysteries in PNRI’s first-ever Rare Disease Hackathon. Read on to learn about their mission to uncover disease-causing genetic variants in unresolved rare disease families.
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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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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.