Jakarta, iNTI - Researchers at Google DeepMind have introduced a new artificial intelligence tool designed to assist scientists in pinpointing the genetic factors behind diseases, with the potential to accelerate the development of future treatments.
The tool, called AlphaGenome, analyzes how genetic mutations disrupt gene regulation, altering when genes are activated, in which types of cells they operate, and how strongly they are expressed.
Many inherited conditions, such as heart disease, autoimmune disorders, and mental health conditions, along with numerous forms of cancer, are associated with mutations that influence gene regulation. However, determining which specific genetic changes are responsible remains a complex challenge.
“We see AlphaGenome as a tool for understanding what the functional elements in the genome do, which we hope will accelerate our fundamental understanding of the code of life,” Natasha Latysheva, a DeepMind researcher, told a press briefing on the work.
The human genome consists of around three billion pairs of letters, G, T, C, and A, that form the DNA code. Only about two percent of this genetic material provides instructions for producing proteins, the fundamental building blocks of life. The remaining portion plays a regulatory role, coordinating gene activity by determining where, when, and to what extent specific genes are activated.
To develop AlphaGenome, researchers trained the system using publicly available human and mouse genetic databases, allowing the AI to recognize links between mutations in particular tissues and their effects on gene regulation. The tool is capable of examining up to one million DNA letters simultaneously and forecasting how genetic changes may influence a wide range of biological processes.
According to the DeepMind team, AlphaGenome could help scientists identify which sections of the genome are most critical for the formation of specific tissues, such as nerve or liver cells, while also highlighting key mutations that drive cancer and other diseases. The technology may also support the development of new gene therapies by enabling researchers to design custom DNA sequences, for instance, activating a gene in nerve cells without affecting muscle tissue.
Carl de Boer, a researcher at the University of British Columbia in Canada who was not involved in the project, noted that AlphaGenome is able to determine whether mutations disrupt genome regulation, identify the genes affected and the nature of those effects, as well as the cell types involved. He added that such insights could eventually support the creation of drugs designed to counteract these genetic disruptions.
“Ultimately, our goal is to have models that are so good we don’t have to do an experiment to confirm their predictions. While AlphaGenome represents a significant innovation, achieving this goal will require continued work from the scientific community.”
Early Adoption by the Scientific Community
Several scientists have already started applying AlphaGenome in their research. Marc Mansour, a clinical professor of paediatric haemato-oncology at UCL, described the tool as a major breakthrough in his efforts to identify the genetic factors that drive cancer.
Gareth Hawkes, a statistical geneticist at the University of Exeter, highlighted the significance of the tool in understanding previously unexplored regions of the genome. He said:
“The non-coding genome is 98% of our 3bn base pair genome. We understand the 2% fairly well, but the fact that we’ve got AlphaGenome that can make predictions of what this other 2.94bn base pair region is doing is a big step forward for us.”
Conclusion
The early use of AlphaGenome by researchers signals its potential to transform genetic research. By shedding light on the vast non-coding regions of the human genome, the AI tool could accelerate the discovery of disease mechanisms, support the development of targeted therapies, and deepen scientific understanding of how genetic variation influences human health.
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