Prime Highlights:
- AlphaGenome helps scientists understand how mutations affect gene activity across different cell types, paving the way for new treatments.
- The technology could also support gene therapies by allowing researchers to design DNA that switches on specific genes in targeted cells.
Key Facts:
- AlphaGenome examines the non-coding parts of DNA, which control when, where, and how strongly genes are active, not just the protein-making genes.
- It was trained on large public datasets of human and mouse genetics, enabling predictions of how specific mutations impact different tissues.
Background:
Google DeepMind has introduced AlphaGenome, a new artificial intelligence tool designed to help scientists identify genetic changes that drive disease, a development researchers say could accelerate the discovery of new treatments and gene therapies.
The tool is built to analyse long stretches of DNA, up to one million genetic “letters” at a time, and predict how mutations influence gene regulation. Instead of just looking at genes that make proteins, AlphaGenome studies the large non-coding parts of DNA that control when, where, and how much genes are active in different cell types.
It was trained using large public datasets of human and mouse genetics, helping researchers understand how specific mutations affect gene activity in different tissues. By analysing these patterns, the model can predict how genetic changes alter biological processes, including which genes are affected and in which cell types.
“We see AlphaGenome as a tool for understanding what the functional elements in the genome do,” said Natasha Latysheva, a researcher at DeepMind, during a press briefing.
DeepMind researchers believe the tool could help scientists map the genetic elements critical to the development of tissues such as nerve and liver cells, while also identifying key mutations that drive cancer and other diseases. The technology could help develop gene therapies by letting researchers create DNA that turns on specific genes in certain types of cells.
Independent experts have welcomed the development. Carl de Boer, a researcher at the University of British Columbia, said AlphaGenome can reveal how mutations disrupt gene regulation and which genes and cell types are affected, insights that could guide drug development. However, he noted that further work is needed before such models can fully replace experimental validation.
Some researchers are already using the tool. Marc Mansour, a clinical professor of paediatric haemato-oncology at University College London, described AlphaGenome as a “step change” in efforts to identify genetic drivers of cancer.
With AlphaGenome, DeepMind aims to push the boundaries of genomic research, offering scientists a powerful new way to explore the hidden regulatory mechanisms that shape human health and disease.
