Pacific Northwest Research Institute
pnrigenetics.bsky.social
PNRI unravels the powerful mysteries of genetics to drive future medical breakthroughs. We are improving human health for generations to come.
👤 Joined on 09 December 2024
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- 09 Ara 2024, 19:11
🎉 Bluesky'e katıldı - İlk kullanıcı adı:
@pnrigenetics.bsky.social
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🧬 Scientists led by @aimeedudley.bsky.social from 🇺🇸 @pnrigenetics.bsky.social have overturned a long-held belief in #genetics: that inheriting two harmful variants in the same gene always worsens disease. Instead, two harmful variants can actually restore normal protein function.
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New in @nature.com! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500+ individuals in 3,000+ families. 🧬 www.nature.com/articles/s41...
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Full room as we kick off #ASHG25 with welcoming remarks by @geneticssociety.bsky.social president Sarah Tishkoff talking about the need to make human genetics & genomics to populations everywhere. "We are stronger when we stand together" #ASHG2025
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Congratulations to Drs. Ramsdell, Brunkow, and Sakaguchi! I actually didn’t realize until today that PNRI’s David Galas was a part of the project to identify the genetic basis of the “scurfy” mice that led to Tregs. (@pnrigenetics.bsky.social) David’s legacy has touched more than I can imagine!
Show PostCatch PNRI trustee Erick Rabins at Life Science Innovation NW 2025! He’ll present Interpreting Human Genetic Variants: Innovations from PNRI. Don’t miss how our research is advancing rare disease diagnosis. See the full schedule here: lifesciencewa.org/events/life-...
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