International Team Develops AI Model to Detect Rare Genetic Diseases
An international research team has developed an advanced artificial intelligence model that can predict the severity of previously unknown human genetic mutations. This breakthrough could significantly enhance the diagnosis and treatment of rare diseases that impact millions of individuals globally.
The innovation, named "popEVE," is a collaboration between scientists from the Centre for Genomic Regulation in Barcelona and Harvard Medical School. The researchers built upon a previous algorithm from 2021 known as "EVE," which has since been significantly enhanced. The findings were published in the esteemed journal "Nature Genetics."
The new model stands out for its use of evolutionary data from hundreds of thousands of animal species, providing a level of accuracy that surpasses competing models, including Google DeepMind's "AlphaMissense." During testing, popEVE demonstrated remarkable efficiency, accurately identifying the most harmful mutation with 98% precision across 513 entirely new genetic mutations. It also identified 123 genes previously unlinked to developmental disorders.
popEVE has shown particular superiority in predicting disease severity in individuals of non-European descent, addressing a long-standing diagnostic gap in this area.
This innovation aims to provide physicians with a tool to better understand complex and unprecedented medical cases, especially those linked to subtle genetic factors. The model has already proven effective in medical cases in Senegal, where it assisted in treating a patient with muscle atrophy through an increased dose of vitamin B2.
Among its notable advantages, the model requires minimal energy consumption, making it suitable for use in low- and middle-income countries, thereby enhancing access to advanced diagnostic tools.
Professor Damian Smedley, a computational genomics expert at Queen Mary University of London, described the new model as a significant advancement over the original, stating, "The ability to systematically assess all variations in a patient's genome is key to realizing the full promise of genome sequencing in healthcare."
Jonathan Fraser, a researcher at the Centre for Genomic Regulation in Barcelona, emphasized the challenge this model addresses, noting that "the presence of a vast number of unexplained genetic mutations makes diagnosis extremely difficult." He added, "There are many ways in which individual genetic variations can lead to disease... We hope to have provided a very general tool to guide the diagnostic and treatment process."
This scientific advancement is expected to open new avenues in genetic medicine, offering physicians and researchers a better opportunity to understand rare diseases and develop treatment plans based on a precise and comprehensive analysis of each patient's genetic makeup.
