The problem
The vast majority of the roughly 7,000 known rare diseases still have no treatment, leaving patients without options and researchers without an efficient way to find them. The genomic, phenotypic, and clinical data needed to make progress sits fragmented across systems, and building the infrastructure to connect it has been slow and expensive. In Canada, where roughly one in twelve people live with a rare disease, the gap is felt acutely.
What we did
We helped build a program that connects genomic, phenotypic, and clinical data to support better diagnosis and treatment discovery. It applies AI analysis across genetic and clinical datasets to identify disease patterns, and it surfaces drug repurposing opportunities by finding new therapeutic applications for existing medications. The program integrates data from electronic health records, wearables, and genetic testing, and provides low-cost research infrastructure plus collaboration tools that connect researchers, pharmaceutical partners, and public initiatives.
The outcome
A faster, lower-cost path from rare disease data to viable treatment options for patients and the researchers working on their behalf.