Donostia-San Sebastián, Spain – This week, the CoMPaSS-NMD consortium has gathered at the TECNALIA Research & Innovation facilities for its 5th General Assembly. With the project’s closure approaching in April 2027, this two-day meeting serves as a critical milestone for reviewing scientific achievements and outlining the final action plans for each work package. Focusing [...]
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. [...]
For many years, most neuromuscular disorders were considered monogenic diseases: conditions caused by mutations in a single gene, leading to a well-defined clinical picture. This “one gene – one disease” model worked well to explain many rare disorders and remains a cornerstone of medical genetics. However, research on neuromuscular and other disorders has shown [...]
"Navigating NMDs: Your CoMPaSS to Care," a new series of four engaging and accessible webinars designed to shed light on these conditions and the future of their diagnosis and treatment. Feeling lost in the complex world of rare neuromuscular diseases (NMDs)? You're not alone. Navigating the journey from diagnosis to care can be [...]
A groundbreaking study from the University of Modena and Reggio Emilia (UNIMORE) is changing our understanding of facioscapulohumeral muscular dystrophy (FSHD), a prevalent hereditary muscle disorder. Published in the esteemed journal Nucleic Acids Research, the research identifies a novel molecular mechanism involving a long non-coding RNA (lncRNA) called FRG2A-t, shedding new light on how [...]
The genetic landscape of muscle diseases is significantly more complex than initially anticipated. In the so-called Mendelian inheritance, genetic diseases are caused by DNA changes (mutations) in a single gene that lead to a molecular, cellular, or tissue defect, producing a predictable disease phenotype (one gene–one disease). Beyond the "One Gene - One Disease" [...]
The human-AI partnership is empowering clinicians in neuromuscular disorders. The ongoing conversation about artificial intelligence often pits human against machine. However, a groundbreaking editorial published today in ACTA Myologica argues that the true frontier lies not in this perceived conflict, but in the growing divide between humans who are skilled in leveraging AI and [...]