Illumina Partners with D3b to Advance Genomic Research in Pediatric Rare Diseases

Rare Daily Staff

Illumina and the Center for Data-Driven Discovery in Biomedicine (D3b) have entered a partnership to expand genomic research in pediatric cancer and rare disease, combining large-scale data analysis with cloud-based software to accelerate scientific discoveries.

As part of the initiative, researchers at D3b are analyzing 100,000 whole genomes from pediatric patients using Illumina’s software tools. The effort, one of the largest unified genomic datasets ever assembled, aims to uncover the biological origins of childhood disease and improve precision medicine through the Gabriella Miller Kids First Data Resource Center.

Congenital conditions and cancers are among the leading causes of childhood mortality, but much of the data remains fragmented across institutions. The new collaboration seeks to unify these datasets to enable real-time, cross-cohort analyses that can inform diagnoses and treatment decisions.

“Genomic datasets like these give researchers powerful insight for precision medicine,” said James Han, vice president of bioinformatics at Illumina. “Through advances in data, software, and AI, we are moving toward a future where genomic insights drive faster research breakthroughs.”

The comprehensive dataset includes genomes collected through federally funded programs such as the Kids First Data Resource Center and the Children’s Brain Tumor Network. The data are being processed with Illumina’s DRAGEN v4.4 and Connected Analytics platforms, which the companies said can identify genomic variants previously missed by conventional tools.

Illumina also plans to collaborate with D3b on the Pediatric Care eXpansion program, part of the Advanced Research Projects Agency for Health. The initiative aims to accelerate access to data across more than 200 pediatric health institutions nationwide, allowing clinicians to draw on real-world patient experiences and shorten the time from diagnosis to treatment.