An international team of scientists has developed a technology based on artificial intelligence (AI) for the study of minority diseases and has successfully applied it to identify the possible causes of the appearance of what is known as myasthenic-congenital syndromes, a group of rare inherited disorders that limit the ability to move and cause varying degrees of muscle weakness in patients.
The lack of available data on minority—also known as rare—diseases makes research in this area extremely difficult. This work marks a major milestone in the application of AI-based methods, namely multi-layer networks that link and interrelate information from different databases, to address unresolved questions in the study of rare diseases, which affect between 5% and 7% of the population.
The study, published today in the journal Nature Communications, took more than 10 years to complete and involved researchers from 20 scientific institutions in Spain, Canada, Japan, the UK, the Netherlands, Bulgaria and Germany. The team was led by ICREA researcher and Director of the Life Sciences Department at the Barcelona Supercomputing Centre—Centro Nacional de Supercomputación (BSC-CNS), Alfonso Valencia.
“Rare diseases remain an unexplored challenge for biomedical research. The most advanced AI technologies are currently designed to analyze large volumes of data and are not trained for scenarios where the availability of patient data is limited, a key characteristic of rare diseases. This requires large and very long collaborative efforts such as the one we present today,” explains BSC researcher Iker Núñez-Carpintero.
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