How AI may hold the key to faster rare disease diagnosis

MedCity News May 11, 2021
Yann Le Cam, Gregory Moore, and Wolfram Nothaft

Leveraging artificial intelligence can shave years off the difficult process of diagnosing a rare disease. By safely sharing patient data, more will benefit globally.

Rare diseases are diseases that affect a small number of people compared to the general population, and the infrequent nature of these conditions can make the process of obtaining a correct diagnosis extremely challenging for healthcare providers, patients and their families. Although the number of cases for each rare disease might be small, their cumulative impact can be staggering, with at least 3.5 percent of the world’s population estimated to be affected by one of the more than 6,000 known rare diseases at any time. For those living with a rare disease, a timely and accurate...

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