AI tool explores DNA’s dark regions for clues to rare disorders

The tool, called AlphaGenome, was used during an international research effort known as the Undiagnosed Hackathon, where more than 100 scientists analyzed 29 unresolved medical cases. The hackathon took place last year at the Mayo Clinic in the United States and was supported by similar events in Europe.

AlphaGenome is designed to analyze non-coding DNA, which makes up about 98% of the human genome. These regions do not produce proteins but play an important role in controlling gene activity. Mutations in non-coding DNA are difficult to interpret and are often overlooked in clinical testing, limiting the ability to diagnose rare conditions.

According to researchers, AlphaGenome can predict how such mutations may influence nearby genes and whether their effects differ between tissues. This capability could help explain symptoms that current genome sequencing fails to link to a clear cause.

Before the hackathon, scientists tested AlphaGenome on a previously studied case involving a heart-related condition. Laboratory experiments showed that a specific mutation affected gene activity in heart cells but not in brain cells. The AI model produced predictions consistent with those findings.

During the hackathon, researchers applied AlphaGenome to several unsolved cases, particularly where patients carried only one known disease related gene mutation, suggesting another mutation might be hidden in non-coding DNA. While the AI did not directly produce a confirmed diagnosis at the event, it helped researchers prioritize suspicious variants for further study.

Overall, 6 of the 29 cases were diagnosed during the hackathon using existing methods. One additional case has since been linked to a likely genetic mutation, and further confirmation is under way.

The Undiagnosed Hackathon is organized by the Wilhelm Foundation, a Swedish charity supporting families affected by rare undiagnosed diseases. The foundation estimates that around 350 million people worldwide live with rare conditions, many without a confirmed diagnosis.

The next Undiagnosed Hackathon is scheduled to take place from 3 to 5 February in Hyderabad, India.

Earlier, Qazinform News Agency reported that many mental health disorders share common biological roots rather than being entirely distinct.