🧬 How do cancer genomes evolve — and how can decoding them improve diagnosis & treatment? Join PNRI’s #ScienceMatters seminar Nov 19 (10–11 am PT) with Dr. Isidro Cortés-Ciriano of @ebi.embl.org & @sangerinstitute.bsky.social. Free on Zoom ➡️ bit.ly/3JD4AEo #CancerResearch #Genomics

🏓 Great news! The early-bird registration discount for Hope on the Court has been extended to Nov 17. Join the Dec 7 #pickleball tournament benefiting families affected by Arginase 1 Deficiency. Play for fun or for medals — all ages welcome! Register: hopeonthecourt.com #RareDiseaseAwareness #ARG1D

🎾 Ready to rally for a good cause? Join Hope on the Court on Dec 7 – a #pickleball tournament benefiting the #ARG1D Fdn, supporting families affected by a rare, life-threatening genetic disorder. 💸 Early bird: $75; $90 after Nov 7. Register at: hopeonthecourt.com #RareDiseaseAwareness

The #hindbrain may be small, but it controls big essentials–movement, balance, and breathing. Dr. Dan Doherty (UW & Seattle Children’s) explores how it forms, what happens when it doesn’t, and the #genetics behind #rare conditions like #Joubertsyndrome. 🎥 Watch: youtu.be/SRgXcDhxNOA

Grab your paddle Dec. 7 and join the ARG1D Fdn for Hope on the Court – a day of play, purpose & community benefiting families affected by #Arginase1Deficiency. Every serve supports early detection, treatment & research. 💙 Register: hopeonthecourt.com #ARG1D #RareDisease

PNRI’s Dr. Cláudia Carvalho @claucarvalho.bsky.social took the stage at the @geneticssociety.bsky.social #ASHG2025 meeting in Boston sharing leadership insights and moderating a panel on how gene regulation shapes disease. Proud to see PNRI science in action on the global stage! #WomenInScience

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

🧠 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

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

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

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

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

🌏 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

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

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

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.

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

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

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

🔬 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

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

🎧 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

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

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

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

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

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

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

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

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

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

When you #GiveBIG to PNRI, you help the Carvalho Lab accelerate rare disease diagnoses—turning years of questions into life-changing clarity for families. Faster answers mean earlier care and hope. Make a difference today: wagives.org/pnri #RareDisease #GeneticResearch

When you #GIVEBIG to PNRI, the Dudley Lab creates lifesaving technology that pinpoints the genetic cause of potentially fatal #ureacycle disorders–making it possible for patients to get the care they need faster. Help fuel life-saving discoveries: wagives.org/pnri

Catch 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-...

Our Science Matters seminar originally scheduled for Wednesday, April 23 has been canceled. We apologize for the short notice and appreciate your understanding. We’ll be back on May 14 with our next seminar—details coming soon!

Join Dr. Seema Lalani from @bcmhouston for PNRI’s Science Matters FREE virtual seminar on April 23 at 12pm PT. She’ll share how Project GIVE uses virtual care to expand access to genetic services for kids with rare diseases. Register now: ow.ly/buzZ50VwYfF @MCBseattle

PNRI’s FY24 Annual Report is live! 🧬 From rare disease breakthroughs to clam cancer insights, we’re uncovering how genes shape health. Highlights include new diagnostics, DNA discoveries & 20 yrs of type 1 diabetes data. Visit: bit.ly/4j5GqPd #Genetics #RareDisease #T1D

New on YouTube: March's Science Matters seminar is live! Dr. Richard Gibbs from Baylor College of Medicine dives into how genetics and genomics are transforming digital medicine. Watch now: www.youtube.com/watch?v=4YPV... #ScienceMatters #PNRIgenetics

On #RareDiseaseDay, families, scientists & advocates united to share powerful stories & breakthroughs shaping the future of #RareDiseaseResearch. When you're 1 in 300, science is a lifeline. Watch the recap. Feel the momentum: youtu.be/QM8u4SXzBGw #RDD2025

At PNRI’s Rare Disease Day 2025, 30+ family foundations joined us to push research forward. Watch as two moms share why collaboration between families, scientists & clinicians matters. Learn about these remarkable fdns and how you can support their work at: bit.ly/41YSjAm #RDD2025 #raredisease

PNRI’s Science Matters Seminar is tomorrow! Join Dr. Richard Gibbs from @Baylormed for an insightful talk on genomics and healthcare. Register now: events.zoom.us/ev/AiPGWt1c7... @MCBSeattle

Don't miss Dr. Gibbs from @BaylorMed discussing genetics and digital medicine at PNRI’s Science Matters Seminar, March 19 at 12pm PST! Register now: events.zoom.us/ev/AiPGWt1c7... @MCBSeattle

What happens when scientists, clinicians & patient advocates come together? Big ideas, powerful conversations & new collaborations to drive rare disease research forward. Catch the highlights from PNRI’s Rare Disease Day 2025 symposium at Seattle Children's Research Institute! #RDD2025 #RareDisease

Thank you to our sponsors for making our #RareDiseaseDay2025 symposium a huge success! 28 speakers sharing groundbreaking research 44 posters presenting cutting-edge science 31 rare disease foundations represented 260 attendees driving collaboration Photos + recap: bit.ly/41J3zkd

Discover how genetics and genomics are advancing digital medicine with Dr. Richard Gibbs from @BaylorMed at PNRI’s FREE virtual Science Matters Seminar. Register now: events.zoom.us/ev/AiPGWt1c7...

Are you looking for a paid summer #internship in biomedical sciences? The 2025 Summer Undergraduate Research Internship (SURI) at PNRI offers you the chance to immerse yourself in hands-on research, mentorship, and career development. Apply today! pnri.org/about/suri/

Applications for PNRI’s 2025 Summer Undergraduate Research Internship (SURI) close THIS FRIDAY, Feb 28! 🧬 Don’t miss this chance to gain hands-on lab experience & present at the Intern Research Symposium. Apply now! pnri.org/about/suri/ #SummerInternship #BiomedicalResearch

PNRI CEO Jack Faris and Interim CSO Aimée Dudley share how recent #federalfunding upheavals are stalling medical progress and impacting people waiting for diagnoses, treatments, and cures. Read the op-ed: www.seattletimes.com/opinion/fede... 📖 See it in print on Friday, Feb. 14. #fundresearch

When #federalfunding pauses, so does medical progress. Research delays mean delayed treatments and cures for patients who need them most. Our latest blog post explores the recent federal funding instability and what’s at stake when science is caught in the crossfire. Read more: bit.ly/415VdTF

Wow! Our Rare Disease Day 2025 event reached capacity even faster than expected, and we can no longer accept RSVPs. Thank you for your enthusiasm! Stay tuned for event highlights and more ways to support rare disease research. 💜 #RareDiseaseDay #RDD2025 #RareDiseaseResearch