Pacific Northwest Research Institute

Pacific Northwest Research Institute We’re a nonprofit genetics research institute. We believe genetic research holds untapped potential.

Genetic testing can sometimes raise more questions than answers — especially when results reveal a rare disease variant....
11/11/2025

Genetic testing can sometimes raise more questions than answers — especially when results reveal a rare disease variant.
A new PNRI study, conducted in collaboration with clinicians at Baylor College of Medicine, Texas Children's Hospital, Children’s National Hospital, and researchers at the University of Virginia, helps clarify how specific OTC gene variants impact a person’s health and response to metabolic stress.

Their findings shed light on why some people develop late-onset OTC deficiency while others remain symptom-free — and how early awareness can guide prevention and care. 🔗 Read the full story: https://bit.ly/48d8WdJ

11/07/2025

🔬 Don’t miss PNRI’s next Science Matters seminar on Wednesday, Nov. 19 from 10:00–11:00 am PT!

Join Dr. Isidro Cortés-Ciriano from the European Bioinformatics Institute (EMBL-EBI) and the Wellcome Sanger Institute for a fascinating talk on how computational tools are transforming cancer genome research. Discover how his group’s new algorithms and sequencing approaches are revealing how cancers evolve — paving the way for earlier detection and improved treatments. ✅ Register for FREE at: https://bit.ly/3JD4AEo

11/06/2025

🏓 Good news for pickleball fans! The early-bird registration discount for Hope on the Court has been extended to November 17 — giving you more time to sign up for just $75 and rally for a great cause!

This unique tournament benefits the Arginase Deficiency Foundation, supporting families affected by ARG1D — a rare, life-threatening genetic disorder. Register today, grab a colleague, friend, or family member and join us for a day of play, purpose, and community on December 7 at Tsunami Side Out in Seattle.

🎟️ Sign up now ➡️ https://hopeonthecourt.com

10/29/2025

🎾 Ready to rally for a good cause?

PNRI is proud to sponsor Hope on the Court, a pickleball tournament on Sunday, December 7 benefiting the ARG1D Foundation Arginase Deficiency, which supports families affected by Arginase 1 Deficiency, a rare, life-threatening genetic disorder.

Players of all ages and skill levels are welcome – play for fun, compete for medals, or just come cheer from the sidelines!

💸 Early bird registration is $75; $90 as of Nov. 7.
👉 hopeonthecourt.com

10/22/2025

The human hindbrain may be small, but it controls some of life’s biggest essentials like movement, balance, and breathing. In our October Science Matters seminar, Dr. Dan Doherty (University of Washington & Seattle Children's) unravels how this vital region forms, what happens when it doesn’t, and how genetics reveal the roots of conditions like Joubert syndrome.

🎥 Watch the full recording: https://youtu.be/SRgXcDhxNOA

10/21/2025

Grab your paddle and join the Arginase Deficiency Foundation on Dec. 7 for a day of play, purpose, and community at Hope on the Court – a unique pickleball tournament benefiting families affected by Arginase 1 Deficiency, a life-threatening genetic disorder.

This inclusive event welcomes players of all ages and skill levels, for friendly competition, connection, and a shared cause. Players rated 2.5–5.0+ will compete for medals and exciting prizes across multiple divisions. Hope on the Court also offers a special court for families and adaptive play so everyone has a chance to join the fun, regardless of ability.

Whether you’re rallying for fun or going for gold, every serve supports early detection, treatment, and research that bring hope to families facing this devastating condition.

PNRI is proud to support this event and the incredible community behind it. 💙Let’s rally for research. Rally for families. Rally for hope.

🎟️ Early bird registration: just $75! Learn more and register ➡️ hopeonthecourt.com

This week, PNRI’s Dr. Cláudia Carvalho took the stage at the ASHG - American Society of Human Genetics ( ) Annual Meetin...
10/17/2025

This week, PNRI’s Dr. Cláudia Carvalho took the stage at the ASHG - American Society of Human Genetics ( ) Annual Meeting in Boston, sharing insights on leadership in the Managing People, Projects, and Progress workshop and moderating the panel Every Story Has a Beginning and an End: About UTRs and Poly(A) Tails, exploring new tools that reveal how gene regulation shapes disease.

We’re proud to see PNRI represented at the world’s largest gathering of human genetics professionals and to be part of the discoveries moving science forward!

10/07/2025

There’s still time to register for tomorrow’s Science Matters seminar with Dr. Dan Doherty from the University of Washington and Seattle Children's.

He’ll explore how the hindbrain develops and what happens when things go awry, including insights into Joubert syndrome and other malformations.

Don’t miss this fascinating talk! Register today to join us tomorrow at 12 noon PT. 🔗 https://bit.ly/4gXQTfn

10/06/2025

🧠 The tentorium is a “tent” of tissue that separates parts of your brain. What’s happening underneath it? Join us this Wednesday, October 8, from 12–1pm PT, for our next Science Matters seminar with Dr. Dan Doherty from the University of Washington and Seattle Children's.

This fascinating talk will explore how the human hindbrain develops and what happens when things go awry. Dr. Doherty will walk through imaging of the brain, highlight malformation conditions, and dive into the genetics behind Joubert syndrome.

🔗 Register for this free virtual seminar and discussion at: https://bit.ly/4gXQTfn

Newborn screening has saved countless lives and is being guided by new science and policy. At PNRI’s September Science M...
09/22/2025

Newborn screening has saved countless lives and is being guided by new science and policy. At PNRI’s September Science Matters seminar, Dr. Michael Gelb (University of Washington Chemistry) and Dean Suhr (MLD Foundation) discussed the science, policy, and real-world impact of newborn screening today and in the future. Watch the recording on YouTube: https://youtu.be/B0S-J8F7UO0

09/16/2025

It's not too late to join us tomorrow (9/17) for PNRI’s Science Matters seminar from 12–1:30 pm PT.

In honor of Newborn Screening Awareness Month, our guest speakers will highlight the science, policy, and impact of newborn screening—the nation’s most successful public health program—and explore how new advances are shaping care for rare and genetic diseases. 🔗Register here: https://bit.ly/3I1IElt

09/10/2025

September is Newborn Screening Awareness Month and PNRI’s Science Matters seminar is taking a closer look at the innovations and policies shaping this vital public health program.

This month’s session brings together:
✨ Dr. Michael Gelb (University of Washington Dept. of Chemistry) discussing two decades of breakthrough assay innovations and what’s next in technology
✨ Dean Suhr (MLD Foundation) sharing insights into the policy changes shaping newborn screening today.

Join us Sept. 17 from 12–1:30 pm PT. Free & virtual via Zoom. Register today at: https://bit.ly/3I1IElt

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Seattle, WA
98122

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