Researchers reveal AI for discovering rare diseases

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Nov 25, 2025

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12:33pm UTC

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I is getting better at scientific discovery.

On Monday, a group of researchers from the Centre for Genomic Regulation in Barcelona unveiled an AI model capable of discovering previously unknown human genetic mutations that are linked to diseases, outperforming Google DeepMind’s AlphaMissense in some areas. The model could help medical professionals better understand and treat rare diseases. 

The model, called popEVE, was built in partnership with Harvard Medical School and examines the evolutionary diversity of genetic sequences for hundreds of thousands of animal species for genetic mutations to gauge whether certain ones might have negative effects.

PopEVE was tested on 31,000 families that have kids with developmental disorders. In more than 500 cases where the kids had genetic mutations, the model was able to pick out that genetic mutation as damaging 98% of the time.

This model is the latest example of researchers using AI to rapidly advance science. Google in particular has long been involved in AI for science, developing models for cancer cell research, protein structure prediction and genetic mutation research. OpenAI and Microsoft also have initiatives dedicated to applying AI models to scientific research. 

However, these models might not be ready to take the lead in the lab just yet. OpenAI published research last week detailing its experiments with scientists using GPT-5. The findings showed that while this tech proved useful in helping researchers “expand the surface area of exploration and help researchers move faster toward correct results,” the model isn’t capable of performing experiments or solving scientific problems autonomously.