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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Carvalho Lab Shares New Insights Into Rare Diseases, Inversions, and Complex Genomic Rearrangements
New research from PNRI’s Carvalho Lab reveals how complex genomic rearrangements like inversions may help solve rare disease cases that defy standard diagnosis.
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PNRI Announces Leadership Transition and Welcomes New COO
PNRI welcomes new COO Mark Rieder, PhD, and honors retiring CEO Jack Faris, PhD, marking a new chapter in advancing genetic research.
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Rare Disease, Real Progress: Season 2 of PNRI’s Podcast Is Here
Listen now to PNRI Science: Rare Disease, Real Progress – our latest podcast series featuring conversations from our 2025 Rare Disease Day Symposium with scientists, advocates, and industry leaders accelerating rare disease research.
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.
September
17
12:00 – 1:30 pm
Science Matters Seminar
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