Novartis to tackle rare disease diagnosis with AI - European Medical Journal

Novartis to tackle rare disease diagnosis with AI

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Novartis is partnering with Atropos Health, a company specialising in transforming real-world clinical data into personalised real-world evidence, to advance rare disease diagnosis through with AI. 

As part of the collaboration, Atropos Health will design, train and evaluate multiple AI models to improve early identification of patients with rare diseases. The initial focus will be on paroxysmal nocturnal hemoglobinuria, a rare, life-threatening blood disorder marked by significant diagnostic delays that can leave some patients waiting over five years for a diagnosis. 

“Building AI models tested and trained on high-quality real-world data is truly the next frontier in precision medicine,” said Dr Brigham Hyde, CEO and co-founder, Atropos Health, in a press release. “For providers and health systems, faster time to diagnosis and treatment equate to higher patient satisfaction.” 

Also commenting in the release, Rodney Gillespie, Head of Oncology, Novartis US, said that “accelerating diagnosis and treatment through AI and machine learning has the power to significantly improve patient outcomes by enabling faster access to appropriate care”.  

This move follows a similar deal struck by Novartis in 2024, when the company invested $1 billion in a generative AI platform by Generate:Biomedicines to enhance its protein design and discovery.

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