Rare Disease Day 2025: Accelerating Discoveries Together
PNRI proudly hosted the first-ever Rare Disease Day scientific symposium in Seattle on February 28, 2025. This groundbreaking event, co-organized with Seattle Children’s Research Institute and the University of Washington, brought together leading rare disease researchers, clinicians, and family advocates to discuss cutting-edge discoveries and build connections within the rare disease community. Click the link below to learn more about this transformative event.
Delve into PNRI Labs
Unlocking Insights From Transmissible Cancers in Nature
Explore the Metzger Lab’s work to uncover how clams and other bivalves have developed resistance to rare transmissible cancers – and how these findings may lead to new ways to block cancer in humans.
Solving the Unsolved Cases of Rare Diseases
Learn how the Carvalho Lab dives deep into the human genome to identify DNA structural variants linked to rare diseases like Robinow Syndrome and MECP2 duplication syndrome. Their innovative tools pinpoint these genetic structures, advancing diagnosis and treatment for rare diseases.
Culture of Intellectual Freedom
“PNRI is a creative, invested, and non-traditional institute that is pursuing a daring style of science.” – Dr. Rick McLaughlin, PNRI Assistant Investigator
Latest News
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Rare Disease Day 2025: Accelerating Discovery Together
PNRI’s inaugural Rare Disease Day symposium ignited bold collaborations to accelerate rare disease research. See how scientists, clinicians, and advocates are driving breakthroughs!
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Seattle Times Op-Ed: Federal Research Funding Cuts Interrupt Vital, Lifesaving Work
Federal funding cuts disrupt research critical to medical advancements, impacting those needing diagnoses, treatments, and cures. Read PNRI’s op-ed in The Seattle Times to learn more.
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When Science Gets Caught in the Crossfire: The Lasting Impact of Federal Funding Disruptions
Federal funding disruptions have stalled research, delaying critical discoveries. PNRI’s leaders share why stable support matters and how we can protect scientific progress. Read our special message.
Upcoming Event
Science Matters Seminar
PNRI’s Science Matters free, virtual seminars feature discussions with scientists around the globe about exciting research in genetics, genomics, and evolutionary biology with important societal impact.
Topics include research on the genetics of ethnically diverse populations, diseases afflicting vulnerable or underserved groups, and efforts to expand the diversity (broadly defined) of research subjects or the scientific workforce.
The seminars are free to attend and open to the scientific community and anyone interested in learning more about genetics.
March
19
12:00 – 1:00 pm
Science Matters Seminar
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