For many living with rare diseases, the “diagnostic odyssey” is a gruelling reality—a path often marked by years of uncertainty, misdiagnoses, and emotional strain. On 12 February 2026, the CoMPaSS-NMD project will take a significant step towards shortening this journey as we host a major press conference at the Sala Stampa of the Chamber of Deputies in Rome.

Hosted by Hon. Gian Antonio Girelli, this event, titled “The Patient Journey – Precision Diagnosis and Artificial Intelligence,” will highlight how European research is bridging the gap between cutting-edge technology and bedside care.

Ending the “Diagnostic Odyssey”

Hereditary neuromuscular disorders (HNMDs) are notoriously complex to pinpoint. Current data suggests that up to 60% of patients lack an accurate genetic diagnosis, leading to an average “diagnostic cost” of nearly €30,000 per year, per patient.

CoMPaSS-NMD (Computational Models for New Patients Stratification Strategies of Neuromuscular Disorders) is a four-year, €5 million project funded by Horizon Europe. Our mission is to revolutionise this landscape by integrating clinical data, genomics, and imaging into a single, AI-driven ecosystem.

Key Milestones: Introducing the ATLAS Platform

We are proud to share that the project has already reached several pivotal milestones:

  • A Unified Language: We have established a structured digital system using the Human Phenotype Ontology, ensuring that doctors across Europe speak the same “data language.”

  • The ATLAS Platform: A user-friendly digital application for computers and mobile devices is now allowing healthcare professionals to input and analyse patient data rapidly.

  • Advanced AI: By exploring federated learning techniques, we are training AI models while keeping raw patient data decentralised—prioritising privacy and security above all else.

Beyond the Laboratory

Science is only as valuable as the lives it improves. The Rome press conference will feature a shared perspective between clinicians, economists, and philosophers. Crucially, it will include the voices of patients and caregivers, whose direct testimony reminds us that behind every data point is a human story.

By reducing diagnostic times, we don’t just save money for the healthcare system; we return time and clarity to families who have spent far too long in the dark.

Event Details & Press Enquiries

  • Date: 12 February 2026

  • Time: 17:30

  • Location: Sala Stampa, Camera dei Deputati, Via della Missione 4, Rome

  • Press Accreditation: Journalists are invited to contact press.office@dblue.it to attend.

Speakers:

  • Prof. Rossella Tupler (Project Coordinator)

  • Dr Filippo Santorelli (Neurologist)

  • Dr Maria Rosa Virdis (Economist)

  • Prof. Matteo Galletti (Philosopher)

  • Moderator: Giorgio Sestili (Science Journalist, Deep Blue)