COMPASS-NMD: Structuring uncertainty in neuromuscular disease

For thousands of Europeans living with neuromuscular diseases, the physical toll of their condition is often compounded by a frustrating, years-long search for a clear diagnosis. While genetic testing has advanced, DNA alone rarely explains why patients with the same genetic mutation experience completely different symptoms and disease progressions. This leaves families facing deep uncertainty about the future.

COMPASS-NMD is changing this. Our initiative brings together clinicians, geneticists, and computer scientists to shift the focus back to how a disease actually presents in a patient—a method called “deep phenotyping.”

By combining detailed clinical assessments with whole-genome sequencing, muscle MRIs, and tissue biopsies, the project is building a unified digital platform called ATLAS. Driven by AI, this platform aims to turn fragmented medical data into structured, predictable, and actionable care—finally shortening the diagnostic journey and giving patients the clear answers they deserve.