The European project AI-RITMIA has officially started with a kick-off meeting at the Humanitas Research Hospital. The project is coordinated by Prof. Paola Occhetta from the Biological and Biomechanical Engineering research group of the Department of Electronics, Information and Bioengineering at Politecnico di Milano. AI-RITMIA is funded under the Horizon Europe – EIC Pathfinder programme.
AI-RITMIA has an ambitious goal: to definitively clarify the link between genetic variants that are currently unclassified and the clinical manifestations of inherited cardiomyopathies. To achieve this, the project will develop an innovative technological platform based on a personalized, AI-guided “heart-on-chip” diagnostic device capable of reproducing, in the laboratory, the specific characteristics of an individual patient’s heart.
Inherited cardiomyopathies are among the leading causes of heart disease and contribute significantly to mortality at a young age. In recent years, next-generation genetic sequencing techniques have made it possible to analyze an increasing number of genes associated with these conditions. However, fewer than half of the identified variants can be confidently classified as pathogenic. At the same time, the growing capacity for genetic analysis has led to the discovery of an increasing number of variants of uncertain significance, for which it remains unclear whether they are truly disease-causing. This uncertainty complicates diagnosis, makes therapeutic decisions more challenging, and raises important concerns for patients’ family members.
For the first time, AI-RITMIA will bring together three fields that have so far remained largely separate: patient-specific in vitro modelling, in silico analysis and artificial intelligence–based data management, and clinical evaluation. The result will be a clinical-grade personalized platform integrating in vitro experimentation and computational simulation, enabling rapid and objective correlation between functional laboratory data and clinical outcomes in patients carrying unclassified genetic variants.
By generating a pathogenicity score directly accessible to clinicians, AI-RITMIA will provide a practical tool to improve diagnostic accuracy and support more informed and timely therapeutic decisions.