AI breakthrough could revolutionize diagnosis, treatment of genetic diseases: Australian scientists

CANBERRA -- Artificial intelligence (AI) could soon play a pivotal role in diagnosing and treating genetic disorders, a study by the Australian National University (ANU) said on Thursday.

The study marks a significant step toward more precise, personalized medicine by harnessing the power of new data tools, according to an ANU news release.

Published in Nature Communications, the study combines AI-powered protein models with genome sequencing to better understand how mutations affect human health.

It uncovered why some proteins are more vulnerable to harmful mutations than others, through the use of Google DeepMind AlphaFold's cutting-edge AI to analyze the effects of every possible mutation across the full range of human proteins, said the release.

"Our study reveals that evolution has built resilience into the most essential proteins, shielding them from harmful mutations that disrupt protein stability. Less critical proteins seem not to have evolved this inherent ability to absorb damage," said ANU Associate Professor Dan Andrews, the research lead.

Researchers from ANU's John Curtin School of Medical Research and School of Computing help explain why seemingly less vital genes often play a larger role in genetic conditions.

"It's important to identify which genetic system is dysfunctional in a given person, which helps us potentially choose the most effective treatment," Andrews said.

"Our future goals include developing automated systems to flag effective treatment for individuals, based on their genetic and pathology data," he added.