AI Identifies Undiagnosed Genetic Disorders in Children

Researchers at the Children's Hospital of Eastern Ontario (CHEO) developed the world's first AI-powered algorithm, ThinkRare, to identify undiagnosed rare genetic disorders in children. In a pilot project, it analyzed nearly 260,000 patient records and identified 15 likely undiagnosed cases. This AI tool, which took three years to develop, speeds up diagnosis and enables targeted treatment, significantly benefiting affected children and their families.