Dec 28, 2016

How machine learning Is revolutionizing the diagnosis of rare diseases

Posted by in categories: biotech/medical, genetics, mobile phones, robotics/AI

Well before the family came in to the Batson Children’s Specialty Clinic in Jackson, Mississippi, they knew something was wrong. Their child was born with multiple birth defects, and didn’t look like any of its kin. A couple of tests for genetic syndromes came back negative, but Omar Abdul-Rahman, Chief of Medical Genetics at the University of Mississippi, had a strong hunch that the child had Mowat-Wilson syndrome, a rare disease associated with challenging life-long symptoms like speech impediments and seizures.

So he pulled out one of his most prized physicians’ tools: his cell phone.

Using an app called Face2Gene, Abdul-Rahman snapped a quick photo of the child’s face. Within a matter of seconds, the app generated a list of potential diagnoses — and corroborated his hunch. “Sure enough, Mowat-Wilson syndrome came up on the list,” Abdul-Rahman recalls.

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