When Science Meets Compassion: A Global Effort for a Child with an Ultra-Rare Genetic Mutation
- Insights | 25. 08. 12
Some stories remind us why we do what we do.
James Miner is just five years old. He loves bowling, swimming, and caring for his pet hens, Coco and Maple. But behind these everyday joys lies a challenge few families can imagine—James carries an ultra-rare mutation in the YWHAG gene, known to cause seizures and developmental delays. Fewer than 50 people in the world have been diagnosed. There is no approved treatment.
Through the N=1 Collaborative and its Donated Resource Center, scientists from Charles River Laboratories and 3billion came together pro bono—not for profit, but for possibility.
The goal: design a personalized antisense oligonucleotide (ASO) therapy that targets only the mutated version of James’ gene, giving him a chance at a healthier future.
At 3billion, our role was to perform high-resolution, clinical-grade genome sequencing and interpret every genetic clue using our AI-powered platform GEBRA™. This deep dive into James’ DNA could reveal the key to an ASO design that preserves his healthy gene function while silencing the harmful variant.
Curious how 3billion supports rare disease patients and families?
For James’ parents, this collaboration represents more than science—it’s a lifeline of hope, carried by people who care enough to act. For us, it’s a reminder that innovation shines brightest when fueled by compassion.
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3billion Inc.
3billion is dedicated to creating a world where patients with rare diseases are not neglected in diagnosis and treatment.
