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Pacific Northwest Research Institute @pnrigenetics.bsky.social · 4d

There’s still time to register for tomorrow’s Science Matters seminar with Dr. Dan Doherty of @uwdeptmedicine.bsky.social and @seattlechildrens.org! He'll explore how the #hindbrain forms and what we’re learning from conditions like #Joubertsyndrome. Join us at 12 noon PT. 👉 bit.ly/4gXQTfn

Pacific Northwest Research Institute @pnrigenetics.bsky.social · 5d

🧠 Curious what’s happening under the tentorium? Join us
Oct 8 (12–1pm PT) for Science Matters with Dr. Dan Doherty of @uwdeptmedicine.bsky.social and Seattle Children’s exploring how the #hindbrain develops and what happens when it doesn’t. Register: bit.ly/4gXQTfn
#Neuroscience #JoubertSyndrome

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · 19d

Our Sept.Science Matters seminar is now on YouTube!
Experts Dr. Michael Gelb (UW Chemistry) and Dean Suhr (MLD Foundation) explored how newborn screening is advancing to meet the future of rare and genetic disease care.
📺 Watch here: youtu.be/B0S-J8F7UO0
#NewbornScreening #RareDisease #genetics

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · 25d

Tomorrow: PNRI’s Science Matters seminar (Sept. 17, 12–1:30pm PT) explores #newbornscreening – the nation’s most successful public health program – and how advances are shaping #raredisease & #geneticdisease care. It's free and virtual. Register today: bit.ly/3I1IElt

Pacific Northwest Research Institute @pnrigenetics.bsky.social · Sep 10

Join us 9/17 for a special Science Matters seminar on #newbornscreening. Dr. Michael Gelb of UW Chemistry discusses breakthrough assay innovations and technology.
Dean Suhr of MLD Foundation shares policy changes shaping newborn screening. Register today at: bit.ly/3I1IElt
#RareDisease #Genetics

Pacific Northwest Research Institute @pnrigenetics.bsky.social · Sep 4

September is Newborn Screening Awareness Month. Join PNRI’s Science Matters seminar Sept. 17 (12–1:30pm PT) featuring Dr. Michael Gelb (UW Dept. ofChemistry) & Dean Suhr (MLD Foundation). Free on Zoom! Register today at: bit.ly/3I1IElt
#RareDisease #newbornscreening #genetics

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Sep 2

🌏 From Kyoto to Seattle: PNRI’s Dr. Aimée Dudley joined international experts at the 6th International Symposium on #UreaCycleDisorders. We’re proud to partner with @nucdf.bsky.social and The Citrin Foundation – working together to move UCD research and treatment forward. 💙
#rarediseaseawareness

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Aug 30

PNRI’s 2025 SURI #interns just wrapped an incredible summer: building #genome analysis pipelines, engineering #yeast models, and collecting seawater to track #cancer #DNA in marine life. Their final presentations captured it all. We’re so proud of what they achieved! 🌟 Read more at: bit.ly/4lQkAQo

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Aug 28

We’re proud to share that PNRI postdoc Shradha Suyal, PhD has received the 2025 Cynthia Le Mons Fellowship from @nucdf.bsky.social! Her #research in the Dudley Lab @aimeedudley.bsky.social is uncovering how genetic changes cause a rare #ureacycledisorder. Thank you NUCDF! 💙Read more: bit.ly/4mC9qQf

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Aug 15

Weekend plans: road trip, long hike, yard work, or just some quiet time? Make it better with a dose of #discovery. 🎙️ From groundbreaking #raredisease #research to surprising stories of #science in action, PNRI’s podcasts share how #genetics is changing lives. 🎧 Find us wherever you listen.

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Jul 22

Congratulations to PNRI’s Dr. Michael Metzger @metzgerm.bsky.social, recipient of an #NGS Explorer Grant through the #GENEWIZ Summer Camp Grants program! We’re proud to see his work recognized alongside other scientists who are pushing the boundaries of #genomics! Learn more: bit.ly/4m0RluG

GENEWIZ from Azenta Life Sciences @genewiz.bsky.social · Jul 22

We’re thrilled to announce the recipients of our Summer Camp Grants! 🧬🏕

This grant program recognizes breakthroughs in genomics research with funding designed to support omics exploration. Congratulations to our grant winners on this prestigious achievement!

#ResearchFunding #Multiomics #Genomics

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Jul 21

Scientific advances are making it possible to detect #DNA changes that once went unnoticed. The Carvalho Lab @claucarvalho.bsky.social‬ is studying structural variants—like inversions—that may may disrupt genes and contribute to #rarediseases. Explore the latest research highlights: bit.ly/454JDZF

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Jun 30

Leadership news from PNRI: Jack Faris, PhD, is retiring as #CEO after helping guide the institute through a time of growth and renewed focus. We’re deeply grateful for his #leadership and excited to welcome Mark Rieder, PhD, as our new #COO. Read more at: bit.ly/3TiYaeU

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Jun 16

🔬 Miss last week’s Science Matters seminar? Catch the recording of Dr. Paul Valdmanis from ‪@uwdeptmedicine.bsky.social‬ as he shares how his lab is uncovering the role of tandem repeat expansions in neurological disease. 🎥 Watch here: youtu.be/30-uP7Q_qxk
#Genetics #Neurology #TandemRepeats

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Jun 9

PNRI scientist Dr. Cláudia Carvalho @claucarvalho.bsky.social is presenting today at #RBCC 2025 in Brazil, sharing her team’s work on complex DNA rearrangements in rare diseases. Proud to see PNRI research shared on a global stage!🧬🌍 bit.ly/3SHDuwD
#RareDisease #Cytogenetics #Cytogenomics

Pacific Northwest Research Institute @pnrigenetics.bsky.social · May 27

🎧 Final episode is live! Hear from two professionals in #raredisease #biotech who reflect on the stories, people, and science that keep them going. 🎙️ Available wherever you get your podcasts or visit: bit.ly/3Zzi34E
@Ultragenyx @brukercorporation.bsky.social

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · May 22

We’re excited to help spread the word about the
NW Rare Disease Coalition's Rare Disease Fair—3 days of community, connection & advocacy.

📅 June 12–14 in Seattle
Register at: secure.everyaction.com/EWTswsIWPk-C...
Learn more at: rarediseasefair.org
#RareDisease

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · May 19

What drives someone to spend their career solving rare diseases? In Ep. 3 of Rare Disease, Real Progress, researchers and clinicians share what keeps them going—and how collaboration fuels discovery.
🎧 bit.ly/3YUmKpz

#RareDisease #RDD2025 #rarediseaseawareness #rarediseaseresearrch

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · May 13

Happening tomorrow! At 12pm PDT, Dr. Linda (Shen) Gu, PhD, FACMG, joins PNRI’s Science Matters seminar to share how her lab is uncovering disease-causing genes through stem cell and animal model research.
Register now—free! events.zoom.us/ev/Ag9eCLo-Y...
#PNRIgenetics #PrecisionMedicine

Pacific Northwest Research Institute @pnrigenetics.bsky.social · May 12

Behind every #raredisease breakthrough is someone who won’t accept the status quo. Listen now to 3 advocates who share how they’re pushing for progress—from the lab to the clinic to the halls of Congress. Available wherever you get your podcasts or visit: bit.ly/3H3wYh0

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · May 8

When you give big to PNRI, the Metzger Lab opens new pathways to cancer treatment. By studying contagious cancer in marine bivalves, we uncover insights into therapies and support local ecology. Today is the last day to #GIVEBIG! wagives.org/pnri

Pacific Northwest Research Institute @pnrigenetics.bsky.social · May 6

When you #GIVEBIG to PNRI, our #Type1Diabetes (T1D) researchers make unprecedented progress. Analyzing data from a 20-year study, we are learning more about how to predict and even prevent T1D from developing in vulnerable children. wagives.org/pnri
#DiabetesResearch

Pacific Northwest Research Institute @pnrigenetics.bsky.social · May 5

Excited to share Season 2 of our podcast: PNRI Science: Rare Disease, Real Progress! Hosted by Jack & Anna Faris, the new season captures voices from our 2025 #RareDiseaseDay Symposium—scientists, families, clinicians & more.
Apple: bit.ly/4iQ03d4
Spotify: bit.ly/3EZWumI
YouTube: bit.ly/4jF4J6K

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Apr 30

Join Dr. Shen (Linda) Gu, PhD, FACMG, as she discusses how her lab identifies novel disease-causing genes in patients and uncover how they function in the body using stem cell and animal models. Register today for free! ow.ly/gB4L50VKK3W
#ScienceMatters #PrecisionMedicine

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Pacific Northwest Research Institute @pnrigenetics.bsky.social · Apr 29

For too many rare disease families, the search for a diagnosis can take years. PNRI is working to end the diagnostic odyssey by uncovering the genetic causes of rare diseases—bringing clarity & care faster. rarediseases.org/understandin...
#RareDisease #GeneticResearch #UndiagnosedDay

What You Should Know About Undiagnosed Rare Diseases | NORD

What happens when your doctors can't diagnose you? Help is available for undiagnosed rare disease

rarediseases.org

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