DeepMind uses AI to pinpoint the causes of genetic disease

Google's DeepMind has trained an AI that can predict which DNA variations in our genomes are likely to cause disease predictions that could speed the diagnosis of rare disorders and possibly yield clues for drug development.

DeepMind, which Google acquired 10 years ago, is known for AI programs that play video games and have conquered complex board games like Go. It jumped into medicine when it announced that its program AlphaFold was able to accurately predict the shape of proteins, a problem considered a "grand challenge" in biology.

Now, the company says it has fine-tuned that protein model to predict which misspellings found in human DNA are safe to ignore and which are likely to cause disease. The new software, called AlphaMissense, was described in a report published by the journal Science.

As part of its project, DeepMind is publicly releasing 71 million of these predictions, each of which is what's known as a missense mutation — a single DNA letter that, if altered, changes the protein a gene makes.

However, the company isn't letting others directly download the model because of what it characterizes as potential biosecurity risks should the technique be applied to other species.

DeepMind says its results are part of an effort to uncover "the root cause of disease" and could lead to "faster diagnosis and developing life-saving treatments."

The three-year project was led by DeepMind engineers Jun Cheng and Žiga Avsec.

It is important to add that DeepMind's new effort has less to do with drugs and more to do with how doctors diagnose rare diseases, especially in patients with mystery symptoms, like a newborn with a rash that won't go away or an adult suddenly feeling weaker.

With the rise of gene sequencing, doctors can now decode people's genomes and then scour the DNA data for possible culprits.

In that sense, AlphaMissense can help in the search for answers by using AI to predict which DNA changes are benign and which are "likely pathogenic."