Home Medizin KI-basierte Technologie enthüllt Geheimnisse myasthenisch-angeborener Syndrome

KI-basierte Technologie enthüllt Geheimnisse myasthenisch-angeborener Syndrome

von NFI Redaktion

An international team of scientists led by ICREA researcher and Director of the Department of Life Sciences at the Barcelona Supercomputing Centre – Centro Nacional de Supercomputación (BSC-CNS), Alfonso Valencia, has developed an artificial intelligence (AI)-based technology for the study of rare diseases and successfully used it to identify potential causes for the occurrence of so-called congenital myasthenic syndromes, a group of rare inherited diseases that restrict movement capability and cause varying degrees of muscle weakness in patients.

The lack of available data on rare diseases, also known as orphan diseases, makes research in this area extremely challenging. This work marks a significant milestone in the application of AI-based methods, specifically multi-layer networks that link and correlate information from various databases to answer unresolved questions in the study of rare diseases, affecting between 5 and 7% of the population. The study was published today in the prestigious journal Nature Communications. The completion took more than ten years and involved researchers from 20 scientific institutions in Spain, Canada, Japan, the United Kingdom, the Netherlands, Bulgaria, and Germany.

„Rare diseases remain an unexplored challenge for biomedical research. The most advanced AI technologies are currently designed for the analysis of large amounts of data and are not suitable for scenarios where patient data availability is limited, a key feature of rare diseases. This requires significant collaboration efforts like the one we are presenting today,“ explained BSC researcher Iker Núñez-Carpintero, member of the BSC Department of Machine Learning for Biomedical Research led by Davide Cirillo and the Computational Biology Group led by Valencia, co-authors of the study.

In the study, involving a cohort of 20 patients from a small population in Bulgaria, the researchers developed a method that utilizes AI techniques to overcome the limited available data and understand why patients with the same disease and mutations suffer from varying degrees of severity. The method leverages information from large biomedical databases on all kinds of biological processes to examine the relationships between genes in each patient. „The goal is to identify a kind of functional connection that can help us find the missing pieces of the disease puzzle that we have not seen because there are not enough patients,“ Núñez-Carpintero stated.

The Role of Supercomputing and AI

The development of AI methods based on multi-layer networks and the latest advances in supercomputing have made it possible to find the missing pieces referenced by the BSC researcher, as they allow for much faster analysis of large biomedical data than was possible a decade ago when the study began. This enables researchers to find information linking patients with rare diseases and help understand their symptoms and clinical manifestations.

Recent advances in supercomputing infrastructures, such as the new MareNostrum 5 inaugurated recently at the BSC, represent a huge opportunity to develop new strategies for researching rare diseases. Exploring these diseases requires simultaneous analysis of individual patient data and the general biomedical knowledge gathered over the past decade. This task requires strong computational infrastructure, which is only now becoming a reality.“

Iker Núñez-Carpintero, BSC Researcher

The significance of the research lies in opening new avenues for the development of computer applications specifically designed for rare diseases. It also represents a breakthrough in using multi-layer networks to answer fundamental questions about the nature of these diseases. In this case, the results show how different severities of congenital myasthenic syndromes are related to specific mutations in the correct process of muscle contraction.

The Value of Drug Repositioning in Rare Diseases

Furthermore, this study is the first one that allows us to understand the potential genetic causes for the positive effects of certain treatments in some patients with this disease, such as Salbutamol, commonly used to treat respiratory diseases like asthma. This will enable the development of new drug repositioning strategies crucial for rare diseases due to the difficulty in developing specific treatments and the lack of interest from the pharmaceutical industry.

„This is the first study that can genetically explain why some patients with this rare disease respond well to treatments like Salbutamol. This discovery underscores the importance of drug repositioning, an area currently being pursued in biomedical research, and opens new opportunities for understanding and treating rare diseases with precision medicine methods,“ concluded Núñez-Carpintero.


Supercomputing Center Barcelona

Journal Reference:

Núñez-Carpintero, I., et al. (2024). The research workflow for rare diseases using multi-layer networks elucidates the molecular determinants of severity in congenital myasthenic syndromes. Nature Communications. doi.org/10.1038/s41467-024-45099-0.

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