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Spotting Zebras: Technology Cutting Through The Diagnostic Odyssey

 
• By Jo Shorthouse

In Vivo talked to two organizations making progress in the diagnosis of rare diseases using software and genomic sequencing.

Zebra
• Source: Shutterstock

“When you hear hoofbeats, think horses not zebras,” is a saying well known to young doctors to remind them to think of the most common and likely diagnosis when assessing a patient. However, if a clinician is not that familiar with rare conditions, they may struggle to treat the horse when they should have diagnosed a zebra all along.

It is thought that around 350 million people are affected by undiagnosed genetic diseases, outnumbering people living with cancer and...

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