Hereditary neuromuscular diseases (HNMD) are a diverse group of inherited disorders that affect motor neurons, peripheral nerves, skeletal muscles, or neuromuscular junctions. These conditions are characterized by progressive muscle weakness and atrophy, which also impacts other organs and leads to disability. Diagnosing HNMD is a significant challenge due to their genetic complexity and overlapping clinical features, requiring advanced genetic and molecular tests to identify specific mutations and develop treatment strategies.

The CoMPaSS project (Computational Models for new Patients Stratification Strategies of Neuromuscular Disorders) addresses these challenges by creating a comprehensive Neuromuscular Genome Atlas that collects genetic, imaging, and histopathological data from thousands of patients. These resources aim to improve patient stratification and support the development of personalized therapies. By utilizing artificial intelligence, the project enhances the accuracy of diagnoses and provides insights into the molecular mechanisms underlying these disorders, ultimately leading to better patient treatment outcomes.

Silesian University of Technology plays a key role in the project, involving four members of our Department: Prof. Joanna Polańska, Dr. Michał Marczyk, Dr. Aleksandra Suwalska, and M.Sc. Marek Socha. The team is responsible for the standardization and analysis of MRI and histological muscle scans, genetic data analysis, as well as the development of AI-supported classification and clustering systems.

More information can be found on the project website: https://compass-nmd.eu/