Breakthroughs in AI open new avenues in the diagnosis and treatment of genetic diseases.

NDO - Artificial intelligence (AI) could soon play a key role in the diagnosis and treatment of genetic diseases, according to a study published on May 1st by the Australian National University (ANU).

The study, published in the journal Nature Communications, marks a significant step forward in the field of precision and personalized medicine, applying advanced data technology to decipher the impact of gene mutations on human health.

By combining AI-powered protein models with genome sequencing data, the research team discovered why some proteins are more vulnerable to harmful mutations.

Specifically, the research team used advanced AI technology AlphaFold, developed by Google DeepMind, to analyze the impact of any potential mutation on all types of proteins in the human body.

“Evolution has created a self-protective mechanism for the most essential proteins, helping them avoid mutations that destabilize their structure. Meanwhile, less important proteins do not seem to have the same resilience,” said Associate Professor Dan Andrews, a lead researcher.

The research team from the John Curtin School of Medicine and the ANU School of Computer Science also offered an explanation for why seemingly less important genes often play a major role in genetic diseases.

"Accurately identifying which genetic system is disordered in each individual is crucial in guiding the most appropriate treatment," Andrews added.

According to Associate Professor Andrews, the team's next goal is to develop an automated system capable of suggesting effective treatment options for each individual, based on specific genetic and medical data.

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