From Solo Notes to a Full Symphony: Revealing Hidden Genetic Causes of Disease
Like hearing a full orchestra instead of a single instrument, the Carvalho Lab’s new platform reveals genetic causes of disease that traditional methods can miss.


Like hearing a full orchestra instead of a single instrument, the Carvalho Lab’s new platform reveals genetic causes of disease that traditional methods can miss.

Despite a challenging year for research funding, PNRI scientists moved discovery forward with 21 studies in the past year, shedding light on genetic disorders, cancer biology, and hidden patterns in the human genome – breakthroughs that demonstrate the impact of continued investment in biomedical research.

From cancer in clams to rare disease genomics, PNRI’s 2025 SURI interns spent the summer tackling big questions through hands-on research.

New research from PNRI’s Carvalho Lab reveals how complex genomic rearrangements like inversions may help solve rare disease cases that defy standard diagnosis.

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.

PNRI’s FY24 Annual Report is here! See how we’re advancing genetic research, expanding programs, and shaping the future of human health.

PNRI’s inaugural Rare Disease Day symposium ignited bold collaborations to accelerate rare disease research. See how scientists, clinicians, and advocates are driving breakthroughs!

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.

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.

From uncovering genetic mysteries to inspiring the next generation, PNRI’s 2024 was a year of breakthroughs, collaboration, and discovery. Read the highlights!