How machine learning Is revolutionizing the diagnosis of rare diseases

How machine learning Is revolutionizing the diagnosis of rare diseases

How machine learning Is revolutionizing the diagnosis of rare diseases
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.

Abdul-Rahman is a member of Face2Gene’s scientific advisory board, and he’s one of the many physicians and researchers working with its developers to identify syndromes and diseases using facial recognition software. Like many of the 7,000 known rare diseases out there, Mowat-Wilson syndrome has a specific facial signature: square face, pointed chin, widely set eyes. Face2Gene’s algorithms map points on a patient’s face, compare those points with a database containing points from thousands of other faces, and suggest potential diagnoses.

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Doing this all with a single photo is a neat trick, but the real power of the app lies in its long-term potential. Face2Gene’s system uses a machine-learning algorithm, meaning it learns from every new face it scans. The more data it acquires through its use, scientists hope, the more accurate the diagnoses.

This is the latest medical technology that leverages the power of big data to make better diagnoses and more accurate predictions; other artificial intelligence systems analyze patient symptoms or medical scans to predict cancers and crunch numbers to provide personalized treatments. Early diagnosis of rare diseases can help families seek specialized treatments, yet families often wait years for test results and referrals to specialists.

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