Artificial Intelligence to study Hereditary Neuromuscular Diseases
Computational tools and Artificial Intelligence (AI) provide an unprecedented opportunity to expand medical knowledge and make more precise clinical decisions. The CoMPaSS-NMD project, funded by the European Commission's HORIZON EUROPE programme and the Swiss State Secretariat for Education, Research, and Innovation SERI, aims to develop and test novel AI-based stratification methods for Hereditary Neuromuscular Diseases (HNMD) based on multidimensional HNMD data - clinical, genetic, histopathological and MRI - provided by clinical reference centers, partners of the project and located in Italy, France, Germany, Finland and the United Kingdom, within the framework of the European Reference Network for Rare Neurological Diseases. Computational tools for high-dimensional clustering will be applied in a learning approach that uses the internal structure of data to define groups of similar patients. Moreover, to build classification models, averaging and integration techniques will be applied based on simpler classification models and novel HNMD-specific descriptors of histopathological images will be developed, with the goal of uncovering new patterns in the data that allow for more advanced knowledge acquisition and response prediction. As a main project outcome, the CoMPaSS-NMD Atlas Platform will provide precise clinical characterization and diagnosis, with data made publicly available for anyone in the research and health community to use. The project will deliver Recommendations and Guidelines for stratification-based patient management to offer superior standard-of-care for diagnosis, prognosis and assistance in clinical trials planning, following a user-centric, co-design methodology with strong stakeholder engagement and networking with other project consortia.
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