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.
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
#cancer #genetics #genomics
November 15, 2025 at 1:30 AM
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
#cancer #genetics #genomics
Reposted by Pacific Northwest Research Institute
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...
🧬 www.nature.com/articles/s41...
GREGoR: accelerating genomics for rare diseases - Nature
The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.
www.nature.com
November 12, 2025 at 11:09 PM
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...
🧬 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
November 11, 2025 at 6:18 PM
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
#CancerResearch #Genomics
November 7, 2025 at 8:38 PM
🧬 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
#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
#RareDiseaseAwareness #ARG1D
November 7, 2025 at 12:10 AM
🏓 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
#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
#RareDiseaseAwareness
October 29, 2025 at 9:57 PM
🎾 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
#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
October 22, 2025 at 6:05 PM
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
#ARG1D #RareDisease
October 21, 2025 at 5:37 PM
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
#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
#WomenInScience
October 17, 2025 at 5:31 PM
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
#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
October 7, 2025 at 6:30 PM
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
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
October 6, 2025 at 11:12 PM
🧠 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
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
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
September 22, 2025 at 9:51 PM
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
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
September 16, 2025 at 10:10 PM
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
Dean Suhr of MLD Foundation shares policy changes shaping newborn screening. Register today at: bit.ly/3I1IElt
#RareDisease #Genetics
September 10, 2025 at 5:19 PM
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
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
#RareDisease #newbornscreening #genetics
September 4, 2025 at 11:13 PM
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
#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
#rarediseaseawareness
September 2, 2025 at 9:56 PM
🌏 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
#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
August 30, 2025 at 12:43 AM
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
August 28, 2025 at 9:56 PM
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.
August 15, 2025 at 7:22 PM
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
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
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
July 22, 2025 at 9:58 PM
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
July 21, 2025 at 9:22 PM
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
June 30, 2025 at 8:58 PM
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
#Genetics #Neurology #TandemRepeats
June 16, 2025 at 6:57 PM
🔬 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
#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
#RareDisease #Cytogenetics #Cytogenomics
June 9, 2025 at 7:01 AM
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
#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
@Ultragenyx @brukercorporation.bsky.social
May 27, 2025 at 4:29 PM
🎧 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
@Ultragenyx @brukercorporation.bsky.social