Google’s renowned AI company, DeepMind, has once again showcased its prowess in the realm of artificial intelligence by identifying alterations in human DNA that could lead to diseases. This groundbreaking development is not only expected to expedite the diagnostic process but also holds promise in aiding the discovery of more effective treatments.
DNA, the blueprint of life, is composed of four chemical bases: adenine (A), cytosine (C), guanine (G), and thymine (T). These bases form sequences that instruct the formation of proteins, the building blocks of cells and tissues. During human embryonic development, the sequence of these bases is interpreted to produce proteins. However, any misalignment in this sequence, possibly due to inherited disorders, can result in the incorrect formation of cells and tissues, leading to diseases.
Last year, DeepMind’s AI astounded the scientific community by determining the structure of nearly all proteins in the human body. Building on this success, their latest system, AlphaMissense, is designed to ascertain if a given DNA sequence will produce the correct protein shape. If it determines that the sequence might not yield the right shape, it flags it as potentially disease-causing.
Historically, geneticists have faced challenges in pinpointing which segments of human DNA could lead to diseases. A mere 0.1% of DNA mutations were identified as either benign or disease-causing. However, with DeepMind’s innovative model, this figure has dramatically increased to 89%. This means that researchers can now narrow down their search from billions of DNA building blocks to specific regions that could be disease-inducing.
Pushmeet Kohli from Google DeepMind highlighted the significance of this advancement, stating that researchers can now concentrate on previously overlooked regions that might be disease-causing. This tool, which has undergone rigorous testing by Genomics England in collaboration with the NHS, is poised to be a game-changer in the field of genetics.
Dr. Ellen Thomas, the deputy chief medical officer at Genomics England, expressed optimism about the potential of this tool. According to her, the health service is set to be one of the primary beneficiaries of this development. The tool provides a fresh perspective on genetic data, enabling clinical scientists to interpret this data more effectively for the benefit of patients and their healthcare teams.
Prof. Ewan Birney, the deputy director general of the European Molecular Biology Laboratory, lauded DeepMind’s work as a monumental advancement. He envisions AI playing an increasingly integral role in molecular biology and life sciences, reshaping current practices and methodologies. “I don’t know where it’s going to end, but it’s changing nearly everything we do at the moment,” he remarked.
DeepMind’s latest achievement underscores the transformative potential of AI in the realm of genetics and molecular biology. As technology continues to evolve, it is evident that AI-driven solutions like AlphaMissense will play a pivotal role in advancing our understanding of human genetics, paving the way for more accurate diagnostics and innovative treatments.
Ghosh, P. (2023). Google DeepMind AI speeds up search for disease genes. Retrieved from https://www.bbc.com/news/science-environment-66847977