A cartoon scientist shows charts from a trip to ASCO 2025.

We’ve seen the rise and fall of many trends in healthcare innovation—but AI in rare disease care could be a turning point.

AI has been part of medicine since the 1970s, but only now does it have the power to truly transform care—especially for rare diseases, where traditional methods often fall short. Faster diagnoses, personalized treatments, and smarter research are no longer distant dreams. They’re within reach.

And yet, hesitation remains.

Despite 97% of rare disease specialists believing in AI’s potential, concerns persist. Data bias, hallucinations, privacy risks, and ethical grey zones threaten to derail progress. When patient populations are small and data is scarce, the margin for error shrinks dramatically.

Want to hear directly from healthcare professionals on how AI is already supporting their work—and where they see it going next?

Read the full article by our Rare Disease COE lead Anastasia Pecquet featuring exclusive feedback from HCPs across Europe on the real-world impact and future promise of AI in rare disease care.

Click here to read the article.

Get in touch:

Anastasia Pecquet, Research Director: [email protected]

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