The timing couldn't be more perfect. On June 16, 2026, the newly published "Rome Charter on Rare Diseases" made headlines, signaling Italy’s bid to steer the European Union toward equal health access, structured public-private networks, and unified data sharing for 30 million rare disease patients. But a charter is a vision—a political and strategic [...]
A patient-led association is helping improve lives and accelerate research into rare neuromuscular diseases. The Association ASERMUDE is a Spanish non-profit organization that works to improve the quality of life of people affected by neuromuscular diseases and their families. Its work focuses on providing comprehensive support, reliable information, and ongoing guidance to those living [...]
Artificial intelligence, or AI, is a broad term for computer systems that can perform tasks that usually require human thinking, such as recognizing patterns, organizing information, and supporting decisions. Machine learning is one of the main approaches within AI. It allows computers to learn from data and improve over time, rather than simply following [...]
The journey to a diagnosis for rare neuromuscular diseases (NMDs) is often a long and difficult one. Patients frequently navigate a complex "diagnostic journey" that can stretch over years, involving a myriad of tests—from MRIs and biopsies to genetic screening—often scattered across different departments and timeframes. In December, the fourth CoMPaSS-NMD webinar introduced a [...]
This week marks a major milestone in the evolution of the CoMPaSS-NMD project. On Thursday, April 16th, and Friday, April 17th, our consortium will host two critical workshops to present the ATLAS Platform to our international Scientific Advisory Board (SAB) for its first external expert evaluation. Until now, the ATLAS has undergone rigorous internal [...]
The CoMPaSS-NMD project is reaching a major milestone in its Young Investigator Training (YIT) initiative. On April 21, 2026, we will host our fifth and final webinar: "The CoMPaSS-NMD ATLAS: A New Tool for Clinicians and Researchers." Neuromuscular diseases (NMDs) are often rare and heterogeneous, with similar phenotypes hiding different underlying mechanisms. The CoMPaSS-NMD [...]
On March 3, 2026, the CoMPaSS-NMD project hosted a landmark event at TECNALIA Research & Innovation in Donostia-San Sebastián, also accessible globally via a live stream. The event, "Ethics and Regulation in AI for Health," arrived at a critical juncture as the European healthcare sector navigates the implementation of the EU AI Act and [...]
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 [...]
Revolutionizing Diagnosis for Hereditary Neuromuscular Diseases The CoMPaSS-NMD project is making headlines for its innovative approach to transforming the landscape of rare disease diagnosis. By integrating genomics, structured clinical data, and Artificial Intelligence (AI), the project aims to provide a unified pathway that reduces waiting times and eliminates the "diagnostic odyssey" many patients face. [...]
Rare diseases are anything but rare when you look at the collective impact. While individual conditions are uncommon, around 350 million people worldwide are affected by a rare disease. Within this massive group are Neuromuscular Diseases (NMDs). Collectively, NMDs affect about half a million individuals—a population roughly the size of a country like Poland. [...]