Genetic disorders identified by developed-in-Canada algorithm [Video]

Researchers at the Children’s Hospital of Eastern Ontario (CHEO) have developed the world’s first algorithm powered by artificial intelligence to identify children with undiagnosed rare genetic disorders.

During the pilot project, researchers at the Ottawa pediatric hospital used AI to scour nearly 260,000 patient records over the past decade. The analysis revealed 15 children and youth who had likely undiagnosed cases. Their symptoms had not triggered genetic analysis.

There are approximately 6,000 rare genetic diseases, some so uncommon they’re only found in 1 out of 5 million people.

The diseases are often complex and present as symptoms that point to other medical issues leading to misdiagnosis and years of delayed treatment and care.

CHEO’s ThinkRare algorithm, which took three years to develop, hones in on the likely cases much faster.

“Our work was focused on ‘how do we identify kids who may have a rare genetic disease earlier in their …