Shortening the Diagnostic Odyssey

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One reason for the extended diagnostic odyssey that rare disease patients face is that doctors are often unfamiliar with the rare conditions they may have. In addition, doctors are trained to think of the likeliest explanation for a patient’s symptoms, which may be similar to those of more common diseases. London-based Mendelian is working to bring machine learning to the rare disease diagnostic process as a way to identify patients whose symptoms may suggest they have an underlying rare genetic disease and provide a path forward to finding an answer. We spoke to Rudy Benfredj, co-founder and CEO of Mendelian, about the diagnostic challenge rare disease patients face, the company’s platform technology, and whether he thinks we’ll see an end to the diagnostic odyssey anytime soon.

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