AI helping to identify undiagnosed genetic disorders in children

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

"Our work was focused on 'how do we identify kids who may have a rare genetic disease earlier in their diagnostic pathway to avoid the frustrations that happen in later years when they get ping-ponged around the system?'" said Dr. Kym Boycott, senior scientist at the CHEO Research Institute. Over the decade, Antony visited CHEO more than 100 times across six different specialty clinics and made 30 trips to the emergency department.

Dr. Boycott is also CHEO’s chief of genetics. She says not only is a clinical diagnosis key to getting targeted treatment, but it also unlocks valuable resources for families like access to special education assistants in classrooms. CHEO may be the first hospital to use this generalized AI diagnostic tool, but there are no plans to monetize the algorithm. Instead, Boycott says her team wants to give away the algorithm for free so pediatric hospitals across the world can faster identify genetic disorders in children.Researchers have developed the world's first algorithm powered by artificial intelligence to identify children with undiagnosed rare genetic disorders.

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Source: Tech Daily Report (techdailyreport.net)

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