New coverage in The Scientist highlights Dudley Lab research showing that two damaging variants don’t always make disease worse — in many cases, they restore protein function. These findings could reshape how #genetic risk is interpreted, especially for #raredisease. Read more at: bit.ly/4rdvgfm

Two genetic “wrongs” can sometimes make a right. New PNRI research shows that pairs of damaging variants can restore normal protein function—challenging long-held assumptions in #genetics and opening doors to more accurate #raredisease diagnosis. Published in PNAS. bit.ly/4qKEGhK #AIinresearch

Federal funding cuts are disrupting #raredisease and #type1diabetes research nationwide—threatening the continuity families depend on for answers. Time is running out to double your impact. All gifts to PNRI are matched up to $27,000 thru 12/31. Support families. Support #science. 🔗 bit.ly/4j1GTma

Federal funding cuts are putting critical #biomedicalresearch at risk — even as scientific breakthroughs are within reach. Every gift to PNRI is matched dollar-for-dollar thru Dec. 31, helping protect #raredisease and #T1D research families are counting on: Give today: bit.ly/4j1GTma #supportscience

Federal funding cuts are having real consequences for biomedical research — including at PNRI. Long-term studies can’t simply be paused. Through Dec. 31, every gift is matched dollar-for-dollar. 👉https://bit.ly/4j1GTma #raredisease #T1D #supportscience #genetics

Science doesn’t stop when funding does – and neither do families looking for answers. PNRI’s Board of Trustees is matching all donations up to $27,000 through Dec. 31. Your year-end gift helps protect #raredisease and #type1diabetes research. 🔗 pnri.org/support/science2025

What can precision #genomics uncover in one of the world’s most genetically diverse populations? Tomorrow, Dec. 10, 10-11am PT Dr. Shahida Moosa explores how South Africa is using exome/genome sequencing, long-read tech & RNAseq to diagnose #rarediseases. Register today at: bit.ly/48xCMtj

South Africa is pioneering omics-driven #precisioncare —bringing long-needed answers to families facing #rare and #undiagnosed conditions. Join PNRI on Dec. 10 at 10am PT when w/Dr. Shahida Moosa explores how layered #genomic tools are reshaping #diagnosis and care. Register at: bit.ly/48xCMtj

Today is #GivingTuesday. Funding cuts threaten the #raredisease + #type1diabetes research families rely on. Your gift helps protect lifesaving science. Give today: pnri.org/support/scie...

Cold. Rain. Darkness by 4:30. You know what that means? Indoor #pickleball season. 🎾 Beat the December gloom and join us for the Hope on the Court Pickleball Tournament on Dec. 7 — a perfect indoor escape and a chance to support families living with #rarediseases. Sign up at: hopeonthecourt.com

Join us on Nov. 19, 10–11 am PT when Dr. Isidro Cortés-Ciriano of @ebi.embl.org and @sangerinstitute.bsky.social shares new findings on cancer genome evolution and tools for detecting complex structural variants. It’s free and on Zoom. Register now at: bit.ly/3JD4AEo #cancer #genetics #genomics

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...

Genetic testing can raise more questions than answers, especially for #RareDisease variants. A new PNRI study w/ @bcmhouston.bsky.social, Texas Children's Hosp, @childrensnational.bsky.social and Univ. of VA clarifies how #OTC gene variants affect health & guide prevention. More at: bit.ly/48d8WdJ

🧬 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